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1
Rowlinson, Giselle Victoria. "Connexins in congenital heart disease." Thesis, Imperial College London, 2011. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.550483.
Testo completoAbstract (sommario):
Gap junctions are clusters of transmembrane channels, composed of connexins (Cx), that facilitate electrical and chemical communication between the cytoplasmic compartments of contiguous cells. Three connexins are expressed in cardiac myocytes, Cx40, Cx43 and Cx45. Targeted deletion of these connexin genes in mice results in cardiac malformations and conduction abnormalities. From this background, the question arises as to whether connexins play a role in human congenital heart disease. Atrial and ventricular tissue samples were studied from patients undergoing cardiac surgery. Immunoconfocal microscopy and western blot analysis of atrial tissue revealed that expression of CX40 and CX43 in children and adults with congenital heart disease is the same as that in the normal adult atrium, irrespective of the underlying malformation. Normal adult ventricular working myocytes express only CX43. Study of control ventricular samples in children confirmed that, as in adults, CX43 only is expressed. However, immunoconfocal microscopy of samples from patients with right ventricular outflow obstruction (tetralogy of Fallot and double chambered right ventricle) revealed that in addition to CX43, CX40 is also highly expressed. Expression is heterogeneous and CX40 is eo-localised with CX43. Quantitative western blot analysis showed that up to 10% of the total connexin expressed in these samples is CX40. As patients re-operated following previous repair (with markedly different underlying haemodynamics) still demonstrated high CX40 expression in the working myocardium, these results suggest that a lack of normal CX40 repression during development leads to heart malformations . . Gap junction channels formed from each connexin isofonn have distinctive biophysical properties. Connexin eo-expression further alters these properties. To investigate the functional consequences of the connexin eo-expression patterns observed in the ventricular samples, in vitro cell models were used. Intercellular communication was assessed using cell-to-cell Lucifer Yellow dye transfer in an inducible RLE cell line and conducjion properties were studied in an atrial myocyte (HL-l) cell line. The findings are consistent with the idea that altered function arising from abnormal embryonic connexin expression is a contributor to some types of human cardiac malformation.
2
Grech, Victor. "Congenital heart disease in Malta." Thesis, University College London (University of London), 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.286359.
Testo completo
3
Khetyar, Maher. "Genetics of congenital heart disease." Thesis, St George's, University of London, 2017. https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.754064.
Testo completoAbstract (sommario):
Congenital Heart Disease (CHD) is the leading non-infectious cause of death among children less than one year. CHD is genetically heterogeneous, but analysis of large multi-generational families has led to the identification of a number of genes for CHD. In this project I investigated the molecular genetic basis of CHD in a large Kuwaiti family with clinically diagnosed truncus arteriosus. Using a homozygosity mapping approach I identified a region of interest on chromosome 8p21. I proceeded to sequence candidate genes in this region. One of the novel genes identified was predicted to be the human homolog of mouse Nkx2.6, a gene encoding a homeobox transcription factor expressed in the sinus venosa and the myocardium of the outflow tract in the developing mouse heart. Sanger sequencing identified a Phel51Leu mutation which segregated with disease in the family. Next I investigated whether mutations in Nkx2.6, or the related gene Nkx2.5, were a common cause of type I truncus arteriosus in 12 unrelated individuals. However I found no mutations, suggesting the pattern of inheritance in this phenotype is likely to be complex and potentially multifactorial. Finally I investigated the molecular genetic basis of another congenital heart defect known as Patent Ductus Arteriosus (PDA) in a multigenerational Kuwaiti family with six affected members. A condition known as Char Syndrome is characterized by a combination of major features one of which is PDA and can be caused by mutations in the TFAP2B gene which encodes the Transcription Factor AP-2 Beta. I therefore hypothesised that mutations in TFAP2B may also be responsible for PDA in the Kuwaiti family. I identified a predicted splice site variant in this gene that segregated with disease status. A full clinical history and physical examination confirmed that no affected members of this family have any of the remaining features of Char Syndrome suggesting that mutations in TFAP2B can also cause isolated PDA.
4
Bentham, James Robert. "Genetic & molecular mechanisms of congenital heart disease." Thesis, University of Oxford, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.496824.
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5
Lyon, Joy E. "Adults with congenital heart disease : the patients' perspective." Thesis, Bournemouth University, 2006. http://eprints.bournemouth.ac.uk/10535/.
Testo completoAbstract (sommario):
Over the last 50 years technical and other advances have resulted in more than 90% of children born with congenital heart disease (CHD) surviving and reaching adulthood. This new patient population has been largely overlooked in recent policy and practice developments in health and social care. Evidence available at the start of the study confirmed increased survival and suggested the need for life long follow up. There was found to be limited research exploring the view of what was required by adults with CHD or into psychosocial aspects of living with a heart condition. The purpose of this phenomenological study was to discover the adults' experience of living with CHD. Twenty-eight people, over the age of 20 years, who had undergone surgery for their heart condition, participated in semi-structured interviews during which they recounted their experience of growing up and living with CHD. Five people, who epitomised being well, contributed to second interviews during which they told stories that demonstrated what being well meant for them. Thematic analysis revealed participants had a positive view of themselves and were highly motivated to maintain their health. Their heart condition was an integral part of who they were, but did not dominate their life. Three main areas influenced the positive view held by participants. These were: first the perceptions of wider society, second when the CHD impacted on available choices, and third when hospital attendance occurred. Second interviews revealed `being well' developed through participants' ability to make their own decisions, which was done in a responsible manner, resulting in informants being able to get on with life, engaging in activities of their choosing. The study findings inform proposals for services to develop in ways that can enhance opportunities for adults with CHD to achieve their full potential. Developing skills relevant to `non-patient' activities and managing the misconceptions of wider society are key factors in adults with CHD being able to participate in meaningful activities of their choice. It is essential for health and social care to be delivered in ways that promote patient autonomy and self-management. Areas for further research emerge from the findings. Hearing the way living with CHD is experienced during childhood and adolescence can contribute to transition processes. Hearing the experience of other groups including parents, partners and health professionals, as well as people surviving with other chronic childhood conditions, can add to the findings presented here.
6
Hanna, E. J. "Epidemiological and genetic studies in congenital heart disease." Thesis, Queen's University Belfast, 1985. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.373007.
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7
Patel, Chirag. "Molecular genetic analysis of familial congenital heart disease." Thesis, University of Birmingham, 2013. http://etheses.bham.ac.uk//id/eprint/4471/.
Testo completoAbstract (sommario):
Development of the human heart is a complex process controlled by multiple genes (in interacting pathways), many of which are still to be determined. Abnormal heart development results in a spectrum of congenital heart disease (CHD), occurring in isolation or part of a syndrome, and with or without a family history, implying a genetic basis in some individuals. In this project I investigated the molecular genetic basis of CHD, in 23 families with nonsyndromic CHD. Using autozygosity mapping, I initially investigated the molecular basis of CHD in a single large consanguineous family (CHD1), and identified a region of interest containing a candidate gene (GDF1). I proceeded to sequence GDF1 (and genes in the same developmental pathway - NODAL, CFC1, TDGF1, and FOXH1) in 9 kindreds, but did not identify any pathogenic mutations. I then utilised whole exome sequencing (WES) to identify candidate mutations in potential CHD genes (GMFG, WNT11 and DVL2), and investigated these further by conventional sequencing. A novel GMFG nonsense variant was validated in family CHD1 and was absent from ethnically matched controls. Bioinformatics analysis of WES data from 19 affected individuals from 9 kindreds did not identify a frequently mutated candidate gene (or further GMFG candidate mutations), though candidate variants in individual kindreds were identified. Further functional analysis using animal models is required to determine the pathophysiological effect of the GMFG truncating mutation in cardiac development.
8
Plymen, C. M. "The right ventricle in adult congenital heart disease." Thesis, University College London (University of London), 2014. http://discovery.ucl.ac.uk/1431817/.
Testo completoAbstract (sommario):
Heart failure (HF) and sudden cardiac death (SCD) in congenital heart disease (CHD) is prevalent and can relate to abnormal right ventricular (RV) physiology and abnormalities of QRS duration, and QRS, JT and QT dispersion (d). Characterising disease and identifying factors that may predict adverse outcome in those with either a subpulmonary or subsystemic RV, as well as investigating potential avenues to ameliorate abnormal RV physiology is necessary to improve outcomes in this young population. I undertook several studies during the course of this Thesis to examine and further understand these two separate physiological substrates: In the first I studied the effect of isolated percutaneous (PPVI) pulmonary valve implantation on surface ECG parameters. PPVI represents a pure model of RV mechanical and electrophysiological changes post replacement as compared to surgical replacement: Ninety nine PPVI procedures in patients with CHD (aged 23.1±10 yrs) were studied pre, post and 1-year following PPVI with serial ECG’s and echocardiography/ magnetic resonance imaging (CMR). 43% had pulmonary stenosis, 27% pulmonary regurgitation (PR) and 29% mixed lesions. In those with predominantly PR (n=26), QRS duration decreased significantly (135±27 to 128±29ms; p=0.007). However, in the total cohort no significant change in QRS duration at 1 year was observed (137±29 to 134±29ms). QTc, QRSd, QTd and JTd all significantly reduced at 1 yr (p≤0.001). RV EDV correlated with pre-procedure QRS duration (r=0.34; p<0.002) but there was no correlation after PPVI. This is the first study to report electrical remodelling following isolated PPVI and it confirms that reductions in QRS duration occur post PPVI in PR, as reported for equivalent surgical cohorts. Further, increased homogeneity of repolarisation, in combination with improved conduction, may reduce arrhythmic events in congenital cardiac patients with pulmonary valvular disease. My second study sought to create an epicardial electroanatomic map of the RV and then apply post-operative targeted single and dual site RV temporary pacing with measurement of haemodynamic parameters. I wished to determine the potential role of cardiac resynchronization therapy (CRT) in the setting of RV dysfunction as little is known regarding the potential benefits of CRT in this setting. Sixteen adults (age=32±8 yrs, 6M; 10F) with right bundle branch block (RBBB) and repaired tetralogy of Fallot (ToF; n=8) or corrected congenital pulmonary stenosis (n=8) undergoing surgical pulmonary valve replacement (PVR) for PR underwent intra-operative epicardial RV mapping and haemodynamic assessment of random pacing configurations including site of latest RV activation. I found that the commonest site of latest activation was the RV free wall & dual chamber (DDD) pacing here, alone or combined with RV apical pacing, resulted in significant increases in cardiac output (CO) vs AAI pacing (p<0.01 all measures). DDD RV alternative site pacing significantly improved CO by 16 % vs AAI, and 8.5% versus DDD RV apical pacing (p=0.02). Single site RV pacing targeted to the region of latest activation in patients with RBBB undergoing PVR thus induces acute improvements in haemodynamics and implies that targeted pacing in such patients has therapeutic potential both post-operatively and in the long term. QRS duration is a strong predictor of survival in acquired left ventricular dysfunction, but equivalent data in those with a systemic RV is lacking. My next studies investigated not only the relationship between ECG parameters, arrhythmia burden and outcome in adults with transposition of the great arteries (TGA) late after atrial switch repair, but also the interrelationships between various HF markers in this cohort. Adults with Senning or Mustard palliation of TGA under follow up at a dedicated congenital HF clinic and 13 similar adults who suffered a cardiac death were included for study. Patients were subdivided by arrhythmic history, surgical intervention and death. Assessment included symptom assessment, venous blood sampling for circulating N-terminal pro brain natriuretic peptide (NT-proBNP) levels, measurement of surface ECG and CMR for the assessment of RV systolic function and determination of indexed RV volumes. I found that QRS duration (p=0.0003) and QTc interval (p=0.0009) increase significantly with changing arrhythmia subtype, and that both QRS and QTc were independently associated with increased risk of death: for 1ms increase in QRS HR 15 [95% CI 3.3-68.6] and for QTc HR 10.7 [95% CI 2.3-49] (p<0.0001 for both). QRS >104ms and QTc >406ms had a sensitivity/specificity for predicting death of 96%/66% and 96%/56% respectively. Two year mortality was 36% when QRS<104ms and 88% when >104ms (p<0.0001 for difference). Further, compared to those with uncomplicated surgery, patients with complex surgical history had higher NT-proBNP levels (55±26 vs 20±35pmol/L; P=0.002) and longer QRS duration (116±28ms vs 89±11ms; P=0.0004) whilst showing no difference in NYHA class and RV function. There was a significant relationship between diastolic and systolic RV volumes and both NT-proBNP levels (r=0.43, P=0.01; r=0.53, P=0.001 respectively) and QRS duration (r=0.47, P=0.004; r=0.53, P=0.001 respectively). These findings suggest that QRS width and corrected QTc interval on surface ECG are associated with increased risk of death in adults late after atrial switch repair of TGA. Given that a QRS of only 104ms defines a high risk population, careful examination of the ECG is desirable in all patients and therapy to reduce risk attempted. Further, together with these simple surface ECG parameters, circulating NT-proBNP levels constitute safe, cost effective and widely available surrogate markers of systemic RV function and provide additional information on heart failure status. Both measures hold promise as prognostic markers and their association with long-term outcome should be determined. Lastly, I examined the mechanisms of late RV failure and studied their relationship to subjective quality of life assessment as this are poorly characterised. Equilibrium Contrast CMR imaging was used to quantify extracellular volume (ECV) in the septum and RV free wall of adults presenting to a specialist clinic late after atrial redirection surgery for TGA. These were compared to age and sex matched healthy volunteers. Patients were also assessed with a standardised CMR protocol, NT-proBNP and surface ECG measurement, and cardiopulmonary exercise (CPEX) testing. Patients also completed a Minnesota Living With Heart Failure Questionnaire (MLHFQ) self assessment. I determined that mean septal ECV was significantly higher in patients than controls (0.254±0.036, vs 0.230±0.032; p=0.03). NT-proBNP positively related to septal ECV (p=0.04; r=0.55) but chronotropic index (CI) during CPEX testing negatively related to ECV (p=0.04; r=-0.58). No relationship was seen with other CMR or CPEX parameters. Median MLHFQ score was 6(2-19), median NT-pro BNP 24 (16-43) and mean peak VO2 24±7mL/kg/min. There was a significant positive correlation between MLHFQ score and NT-proBNP (p=0.001, r=0.34) and a significant negative correlation with peak VO2 (p=0.001, r=0.49. ). Septal interstitial expansion is seen in adults late after atrial redirection surgery for TGA. It correlates well with NT-proBNP and CI and may have a role in the development of RV systolic impairment. The MLHFQ correlates highly with NT-proBNP and exercise capacity in patients with systemic RV impairment. The ability of the MLHFQ in predicting HF events and prognosis in adults with CHD needs further evaluation.
9
Lipscomb, Sund Kristen. "Adults with Congenital Heart Disease: A Genetic Perspective." University of Cincinnati / OhioLINK, 2009. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1252702239.
Testo completo
10
Tseng, Stephanie Y. "Altered Erythropoiesis in Newborns with Congenital Heart Disease." University of Cincinnati / OhioLINK, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1592170832331138.
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11
Jacobs, Esther Gertruda Josephus. "Growth impairment in patients with congenital heart disease." Thesis, Hong Kong : University of Hong Kong, 1999. http://sunzi.lib.hku.hk/hkuto/record.jsp?B20972696.
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12
Li, Wei. "Atrial flutter in grown up congenital heart patients." Thesis, Imperial College London, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.251859.
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13
Phillips, D. Alexander. "Sickness, Violence and Reconciliation: Congenital Heart Disease in Iraq." Digital Archive @ GSU, 2012. http://digitalarchive.gsu.edu/anthro_hontheses/3.
Testo completoAbstract (sommario):
Congenital heart disease affects tens of thousands of children and families throughout Iraq, where complex surgical treatment remains largely unavailable. Through participant-observation and in-depth interviews, I investigated the understandings of this disorder among families in two areas: Kurdish northern Iraq and Arab southern Iraq. I pay particular attention to families’ perspectives on causes and treatment of the disorder in relation to historical and current macrosocial forces. Among the families I spoke with, there is a strong connection between the recent history of violence in Iraq and congenital heart disease. This thesis is largely an attempt to understand the uses and implications of this connection between sickness and violence for Iraqi families pursuing treatment through an international non-governmental organization.
14
Baker, E. J. "Radionuclide techniques in the investigation of congenital heart disease." Thesis, University of Cambridge, 1986. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.596287.
Testo completo
15
Cross, Steve. "Genetics of congenital heart disease and Holt-Oram syndrome." Thesis, University of Nottingham, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.402930.
Testo completo
16
Hartill, Verity Laura. "Congenital heart disease gene identification by whole exome sequencing." Thesis, University of Leeds, 2017. http://etheses.whiterose.ac.uk/18531/.
Testo completoAbstract (sommario):
Congenital Heart Disease (CHD) is the most common congenital defect, but the genetic aetiology of a large proportion of CHD is unexplained. This project aimed to delineate novel genetic causes of CHD using Whole Exome Sequencing (WES) in a family-based approach. Sixteen families were recruited to the study. WES data analysis followed a standardized pipeline and candidate variants were prioritized on the basis of in silico pathogenicity prediction tools and review of the current literature. Known and candidate genes in CHD were successfully identified using WES. In one family, a mutation in PIGV was identified, providing a diagnosis of Hyperphosphatasia and Mental Retardation syndrome and expanding the known phenotype of this condition. In a family with early-onset cardiomyopathy, a mutation in PPA2 was identified, encoding a mitochondria-specific pyrophosphatase enzyme. Through collaboration this gene was identified to be causative in three further families and mutation pathogenicity was investigated by functional studies. In a further family, a missense mutation in DNAAF1 was associated with heterotaxy, in the absence of clinical features of Primary Ciliary Dyskinesia, the phenotype usually associated with this gene. Zebrafish studies supported the pathogenicity of this variant and functional experiments identified novel interactants of DNAAF1 to include Pontin, Reptin and IFT88. Pontin was found to be expressed on the left side of the embryonic node in mice and zebrafish, a pattern which was abolished in dnaaf1-/- mutant fish, suggesting DNAAF1 and Pontin to be involved in the development of early laterality. In two families with athelia, choanal atresia and CHD a candidate variant in KMT2D was identified. The phenotype was distinct from Kabuki syndrome and is likely to represent a novel KMT2D-related disorder. WES was a successful tool in gene identification in CHD and, coupled with functional studies, has provided novel insights into the pathogenesis of CHD.
17
Tzifa, Aphrodite. "MRI-guided or assisted interventions for congenital heart disease." Thesis, King's College London (University of London), 2013. https://kclpure.kcl.ac.uk/portal/en/theses/mriguided-or-assisted-interventions-for-congenital-heart-disease(24bf0db5-6737-4bcd-94d7-ec3bb9704fda).html.
Testo completoAbstract (sommario):
Congenital heart disease occurs in 0.8-1% of children. A proportion of these patients will require interventional treatment in the form of cardiac catheterisation or surgery, whilst some will only require medical therapy. Echocardiography is the investigation of choice for diagnosis and follow-up of these patients, whilst magnetic resonance imaging (MRI) is now increasingly used in most centres to assess complex congenital cases and to answer specific questions, not possible to address with echocardiography. The ability to obtain anatomical together with quantitative physiological information, such as cardiac function and flows in one examination has led to more detailed assessment and analysis of congenital heart defects and continues to improve our understanding about congenital heart disease and its treatment options. Cardiac MRI scans have now mostly replaced cardiac catheterisation procedures, routinely performed up to a few years ago to aid diagnosis. In parallel, a new form of hybrid catheterisation has emerged by combining MRI with simultaneous pressure measurement in different cardiac chambers and vascular structures. The combination of X-Ray and MRI guided (XMR) catheterisations can address clinical questions, such as estimation of pulmonary vascular resistance and cardiac output response to stress accurately, without the limitation of haemodynamic assumptions during calculations. Further to more accurate physiological information, XMR catheterisation can also offer detailed anatomical information of structures not well seen on echocardiography or MRI alone, and most importantly limit or eliminate the radiation exposure to patient that have been repetitively exposed to X-Ray radiation. The purpose of the research work presented was two-fold: a. to extend the potentials of XMR-guided cardiac catheterisations, particularly in the area of pre-operative and post-interventional evaluation of congenital heart disease and b. to advance our already established programme of solely MR-guided diagnostic cardiac catheterisations in order to materialise the first-in-man solely MR-guided therapeutic cardiac catheterisations. In this way, transcatheter interventional procedures were aimed to be performed in the MR scanner in a similar fashion and with similar equipment to the ones used in the traditional catheterisation suite, without the exposure to ionising radiation. The work towards materialisation of this idea and the world-first clinical trial on solely MRI-guided cardiac interventions for congenital heart disease are being presented in this thesis.
18
Granbom, Elin. "Respiratory tract infections in children with congenital heart disease." Licentiate thesis, Umeå universitet, Pediatrik, 2016. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-128024.
Testo completoAbstract (sommario):
Respiratory Syncytial Virus (RSV) infection is common among young children. Congenital Heart Disease (CHD) is a risk factor of severe illness and hospitalization. Palivizumab prophylaxis reduces the severity of RSV infection and reduces the risk of hospitalization for children at high risk of severe illness, such as children born premature or with CHD. The aim of this thesis was to evaluate compliance with national guidelines for prophylactic treatment and to study the Relative Risk (RR) of hospitalization due to RSV and unspecified Respiratory Tract Infection (RTI) for children with CHD. In a prospective study, questionnaires were sent to all paediatric cardiology centres in Sweden with questions about prophylactic treatment. Hospitalization rates were retrieved from the national inpatient registry. Heart defects were grouped according to type and the relative risk of hospitalization was calculated for each group and for summer and winter seasons. Half of the patients received prophylactic treatment later than recommended in the guidelines. The risk of hospitalization due to RSV infection was increased (RR=2.06 95% CI 1.6-2.6; p < 0.0001) for children with CHD compared to children without CHD. The RR of hospitalization was also increased for all CHD subgroups, and was further increased during summer for children with the more severe CHD. We conclude that guidelines for prophylactic treatment were not followed and that the risk of hospitalization due to RSV and unspecified RTI was increased for all subgroups of CHD. The risk was increased both during winter and summer and we therefore argue that information to health personnel and parents should include that the risk of severe RTI is present all year round for children with CHD.<br>Respiratoriskt syncytialvirus (RSV) är det vanligaste förkylningsviruset och de allra flesta barn drabbas före två års ålder. RSV kan leda till allvarlig luftvägsinfektion hos alla barn, men speciellt hos dem med medfött hjärtfel. Någon botande läkemedelsbehandling finns inte för RSV, utan de medicinska insatserna får inriktas mot att mildra sjukdomsförloppet och för svårt sjuka barn krävs sjukhusvård för att exempelvis erhålla syrgasbehandling. Det finns inget vaccin mot RSV, men barn som riskerar att bli svårt sjuka kan behandlas profylaktiskt med en monoklonal antikropp (Palivizumab) som ges som injektion en gång per månad under vintersäsong. Vissa barn med svårt hjärtfel får denna profylaktiska behandling enligt nationella riktlinjer. Vår första studie visade att ungefär hälften av barnen med medfött hjärtfel, aktuella för profylax mot RSV, fick behandlingen senare än vad de nationella riktlinjerna rekommenderade. Denna studie genomfördes via en enkät till alla landets barnkliniker under två vintersäsonger. Vi såg även att något fler barn än förväntat (4.6%) fick RSV-infektion trots profylaktisk behandling och för cirka en tredjedel av dessa barn fördröjdes tiden till hjärtoperation. Behovet av sjukhusvård kan användas som mått på hur svårt ett sjukdomsförlopp är, och baserat på Socialstyrelsens slutenvårdsregister studerade vi alla barn under två års ålder och fann att den relativa risken för sjukhusvård på grund av RSV var högre för barn med hjärtfel än för barn utan hjärtfel (RR=2.06 95% CI 1.6-2.6; p < 0.0001). I vår andra studie, baserad på slutenvårdsregistret, beräknade vi den relativa risken för sjukhusvård på grund av RSV, för barn med olika former av hjärtfel och uppdelat i sommar- och vintersäsong. Risken för sjukhusvård var ökad för alla barn oavsett typ av hjärtfel, och detta gällde såväl under vintern som under sommaren. Barn med de allvarligaste formerna av hjärtfel hade högre risk för sjukhusvård under sommaren jämfört med deras risk under vintern, medan barn med vad som anses vara lättare hjärtfel hade ökad risk för sjukhusvård under hela året, utan någon större skillnad i risk mellan vinter och sommar. Att barn med hjärtfel riskerar att bli svårt sjuka i RSV är väl känt, men våra resultat visar att denna risk även existerar under sommarhalvåret, då det inte är RSV-säsong och då profylax inte ges. Vi fann också att barn med vad som anses vara lättare hjärtfel löper lika stor risk att drabbas av svårare sjukdomsförlopp med sjukhusvård under vintern, som barn med svårare hjärtfel. Att denna information sprids till såväl sjukvårdspersonal som arbetar med denna patientgrupp som till föräldrar med hjärtsjuka barn är viktigt, för att belysa att även dessa barn behöver skyddas, och detta inte bara under vintern och RSV-säsongen.
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Connor, Jessica. "Chromosomal abnormalities identified in infants with congenital heart disease." University of Cincinnati / OhioLINK, 2011. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1307441785.
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LaHaye, Stephanie Donna. "Discovering and Modeling Genetic Causes of Congenital Heart Disease." The Ohio State University, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=osu1492610446228702.
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Cordina, Rachael Louise. "Pathophysiological Abnormalities in Adults with Complex Congenital Heart Disease." Thesis, The University of Sydney, 2013. http://hdl.handle.net/2123/9530.
Testo completoAbstract (sommario):
This thesis examines the pathophysiology that underlies several important, yet poorly characterised, issues that affect adults with congenital heart disease (CHD). Cardiac arrhythmia is the most common cause for hospitalisation in this group; altered systemic venous anatomy occurs frequently in subjects with CHD however the implications for electrophysiological procedures had not been clearly described in the literature. In Chapter 3 we demonstrate that systemic venous anomalies frequently complicate electrophysiologic testing and catheter ablation. In Chapter 4 we describe atrioventricular nodal re-entrant tachycardia in the setting of atrioventricular septal defect. We found that the atrioventricular conduction tissue is displaced inferoposteriorly in patients with atrioventicular septal defect and is located between the coronary sinus orifice and the nearest part of the atrioventricular valve. Subjects with cyanotic CHD have the worst functional status and mortality rates of the adult CHD group; vascular events such as stroke and pulmonary thromboemboli are important contributors to clinical deterioration and/or death. Endothelial dysfunction has an important role in the development of vascular disease in other conditions but data investigating such pathophysiology in the setting of cyanotic CHD was virtually non-existent until now; in Chapter 5 we investigate endothelial function in the brachial artery, distal arterioles of the finger and retinal vascular bed as well as circulating endothelial progenitor cells in adults with cyanotic CHD. We found that a widespread endotheliopathy exists in adults with cyanotic CHD and reduced numbers of circulating endothelial cells potentially underlie these observations. Data were also lacking that describe the neuro-ophthalmological consequences of chronic cyanosis in CHD that may have important implications for intellectual and physical functioning; we address this issue in Chapter 6 by undertaking detailed ophthalmic investigation including visual field testing and optical coherence tomography of the optic nerve head together with cerebral MRI and brain volumetrics. White matter small vessel ischaemic change and lacunar infarction were frequently observed associated with reduced white matter loss and regional grey matter loss. This occurred in association with retinal nerve fibre layer thinning at the optic nerve head and reduced visual field sensitivity. The retinal vascular bed exhibits increased vascular branching, calibre, tortuosity and fractal dimension reflecting a degree of vascular remodelling in the setting of chronic cyanosis. The Fontan procedure is now the surgical option of choice in suitable candidates born with essentially single-ventricle CHD. In Chapter 7, we investigate the complex interplay of factors that contribute to exercise incapacity in this group and describe, for the first time, a coexistent sarcopenia in the Fontan population that may have important consequences for cardiac and physical functioning. In Chapter 8 we investigate the effects of an intensive, 20-week, total body resistance training program in these subjects. Post-training, subjects had improved muscle strength and muscle mass, peak exercise capacity, muscle aerobic function as well as augmented cardiac function and reduced respiratory dependence. Taken together, these studies contribute to an understanding of the pathophysiology of disease in young adult survivors with the most complex forms of CHD, pointing the way towards a hopefully brighter future of therapeutic options.
22
Tesson, Stephanie. "Parent-child relationships following diagnosis of congenital heart disease." Thesis, The University of Sydney, 2021. https://hdl.handle.net/2123/26801.
Testo completoAbstract (sommario):
Children with congenital heart disease (CHD) and their parents may face numerous relational challenges, including marked distress, parent-child separations, child hospitalisations and neurodevelopmental delays. Despite this, limited research has examined how CHD diagnosis and treatment affects the parent-child relationship, or psychological interventions to ameliorate relational difficulties or distress. Multiple research methods were used to comprehensively investigate these areas. Study 1 systematically reviewed the literature on parent-child bonding, interaction, and child attachment in the CHD context. Overall, greater bonding and interactional difficulties were found amongst parents of children with CHD, compared to healthy controls. Study 2 tested a distance-delivered, technology-assisted adaptation of an observational parent-infant assessment. Preliminary evidence of feasibility and acceptability was found. Study 3 investigated the prevalence and predictors of relational risk amongst mothers and their 6-month old infants with complex CHD. Maternal sensitivity, infant cooperativeness and interactional synchrony were lower amongst this cohort, compared with healthy age-matched controls. Psychological and demographic variables predicted stronger risk for interactional dysynchrony than child medical or temperamental factors. Finally, Study 4 systematically reviewed the literature on psychological interventions for individuals affected by childhood-onset heart disease and their families. Parent-focused interventions showed preliminary efficacy in improving maternal distress, coping and family functioning. Significant gaps in the literature were found, however, including few theoretically based interventions and methodologically rigorous trials. Clinical and methodological implications of this thesis include a need for routine assessment of the parent-child relationship, and development and provision of effective psychotherapies in the pediatric cardiac setting.
23
Padalino, Massimo. "Surgery for congenital heart disease in the adult age." Doctoral thesis, Università degli studi di Padova, 2008. http://hdl.handle.net/11577/3425554.
Testo completoAbstract (sommario):
Despite congenital heart malformations are currently treated in infancy and childhood, a great number of patients still need surgical treatment in adult age. For this reason, we have embarked on a multicentric study involving 7 major italian centers (Padova, Milano S.Donato, Milano Niguarda, Bergamo, Bologna, Massa, Napoli), so as to evaluate the impact of cardiac surgery in adults with congenital heart disease in our country and survival determinants. In addition, clinical late morbidity was analyzed in order to to evaluate correlated pre-operative and operative risk factors.
Methods
We collected data of 856 patients who underwent 1179 procedures from January,1st 2000 to December 31st 2004. Patients were divided into three groups: Group I- Palliation (3.1%): any operation performed to improve patientâ's clinical status without restoring normal anatomy or physiology. Bidirectional cavopulmonary anastomosis and pulmonary artery banding were the most frequent procedures.
Group II- Repair (69.7%): first operation performed in the patient, to achieve an anatomic or physiologic repair by separation of the pulmonary from systemic circulation (including also Fontan-types, and 1 and ’½ ventricle repairs). Most frequent procedures were: atrial septal defect closure (35.8%), partial anomalous pulmonary venous connection repair (7.2%), ventricular septal defect closure (5.3%).
Group III- Reoperation (27.4%): all procedures performed after repair either anatomic or physiologic. The most frequent procedures were conduit replacement (9.8%), aortic (8.6%) or pulmonary valve replacement (7.7%) .
Results
Preoperatively 34.6% of patients were in NYHA class I, 48.4% in class II, 14.2% in class III and 2.8% in class IV. Sinus rhythm was present in 83%.
There were 1179 procedure performed in 856 patients (1.37 procedure/patient), with a hospital mortality of 3.1%. Overall mean intensive care unit stay was 2.3 days (range:1-102 days). Major complications were reported in 247 pts (28.8%), with postoperative arrhythmias being the most frequent (26%).
At mean follow-up of 22 months (range 1 month- 5.5 years), 86% of data were available. Late death occurred in 5 patients (0.5%). Patients were in NYHA class I in 79.3 % , II in 17.6%, III in 2.9%, and only one patient in class IV (0.11%). Ability index was class I in 82%, class II in 13.7% and class III in 2.3%. Overall survival estimates is 82.6% , 99% and 91.8% at 5 years for groups I, II, III respectively. Freedom from adverse events at 5 years is 91% for acyanotic vs 63.9 % for preoperative cyanotic patients (p < 0.0001). Multivariate Cox analysis identifies among the most powerful incremental risk factors for survival preoperative NYHA class IV in cyanotic patients (Hazard Ratio-HR- 8.6, p value 0.001), preoperative NYHA class III (HR 2.7, p value 0.023), and reoperation (HR 2.3, p value 0.029). In addition, multivariate Cox analysis for postoperative morbidity expressed as NYHA class greater than 1, identifies among the most powerful incremental risk factors the length of ICU stay (HR 1.037, CI=1.002-1.072, p=0.036), number of operations (HR 1,445 CI=1,1213-1,721, p<0.001), cyanosis (HR 1,555, CI1,035-2,335, p=0,034), alteration of cardiac rhythm before surgery (HR 1,124, CI=1,040-1,215, p=0,03), pre-operative NYHA class>1 (Hazard Ratio 1,573, CI=0,954-2,593, p=0.076), age > 40y (HR 1,466, CI1,014-2,119, p=0.042).
Conclusions
Surgery for congenital heart disease in adult age is a safe and a low risk treatment. However patients with preoperative cyanosis show a higher incidence of late non-fatal complications. In addition, better preoperative clinical conditions are correlated with better late clinical outcomes, thus early repair (before cardiac and non cardiac organ deterioration occurs) is advocated.
24
Chan, Kin-wang. "Study of the in vivo role of TSPYL2 in transgenic mice." Click to view the E-thesis via HKUTO, 2007. http://sunzi.lib.hku.hk/hkuto/record/B38225049.
Testo completo
25
MONTEIRO, MAYLA COSMO. "A HEART FOR TWO: THE CONGENITAL HEART DISEASE IN THE MOTHER-BABY RELATIONSHIP." PONTIFÍCIA UNIVERSIDADE CATÓLICA DO RIO DE JANEIRO, 2003. http://www.maxwell.vrac.puc-rio.br/Busca_etds.php?strSecao=resultado&nrSeq=4350@1.
Testo completoAbstract (sommario):
CONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICO<br>O presente estudo tem por objetivo a compreensão do papel
da mãe na relação com o bebê cardiopata. Baseado na
teoria
winnicottiana, mostra ser o meio-ambiente facilitador
elemento fundamental para uma relação boa o bastante ou
deficitária. Para a realização da pesquisa, utilizou-se
entrevistas semi-estruturadas e aplicação de desenho
sobre
a relação mãe-bebê. Entrevistou-se 4 mães de bebês
cardiopatas, com idades de 0 a 12 meses. Os resultados
revelaram temas relacionados à forma como as mães se
adaptam
à situação de ter um filho com uma cardiopatia congênita,
ao impacto causado na família, aos sentimentos e atitudes
maternos e ao medo de perder o bebê. A partir disto, este
estudo propõe que, tal como o bebê, a mãe precisa ser
cuidada e apoiada. Para tal, é essencial cuidar também de
seu meio-ambiente, representado pelo marido, pelos
filhos,
pela família e pelos amigos. O tipo de relação
estabelecida
entre a mãe e o bebê dependerá dos cuidados recebidos
desse
meioambiente.<br>The objective of the present work is to understand the
mother s role in its relation with the baby with congenital
heart disease. Based on Winnicott s theory, it shows that
the facilitating environment is the fundamental element for
a good enough relationship or a not good enough one.
An interview guide was used to collect the data, which has
a semi-structured conversational format; mother-baby
relationship s drawing were used too. Four mothers of
babies (from 1 to twelve months old) with congenital heart
disease had been interviewed. The results revealed themes
related to the way these mothers get used to the
situation of having a baby with congenital heart disease;
to the impact caused in the family; to the maternal
feelings and attitudes and to the fear of the baby s death.
From these results, this study proposes that, just like the
baby, the mother needs to be cared and supported. For this,
it is essential to take care of the mother s environment
too, represented by her husband, by her children, by her
family and by her friends. The type of the relationship
established between the mother and the baby will depend on
the care taken by this environment.
26
Lawoko, Stephen. "Psychosocial situation of parents of children with congenital heart disease /." Stockholm, 2005. http://diss.kib.ki.se/2005/91-7140-090-7/.
Testo completo
27
Erdenebileg, Ariuntsatsral Ariunaa. "Is Maternal Headache a Risk Factor for Congenital Heart Disease?" Digital Archive @ GSU, 2009. http://digitalarchive.gsu.edu/iph_theses/70.
Testo completoAbstract (sommario):
Congenital Heart Disease (CHD) is one of the most common birth defects. It is the single most modifiable cause of infant mortality under one year of age. Therefore, the causes of CHD have been extensively researched in the past but the etiology remains largely unknown. Environmental risks, particularly maternal risk factors for congenital cardiac malformation have been evaluated in the original BWIS previously. However, in this research we examined one of the additional risk factors. We sought to determine whether maternal headache during six months prior to conception and throughout gestation until birth is a risk factor for CHD in the BWIS dataset. Among 3274 singleton cases and 3519 controls, a maternal report of headache was found to be associated with a nearly 20% increase in the risk of a congenital heart defect (OR= 1.2 p=0.001). Moreover, any medications use for headache 1-6 months prior to conception increased the risk of abnormal cardiac development by 1.3 fold (OR = 1.3, p=0.0004). Aspirin or aspirin containing analgesics were found to increase the risk for CHD at the defined risk period. According to subgroup analysis, aspirin or aspirin containing analgesics and acetaminophen or acetaminophen containing analgesics were found to be the risk factor for CTD i.e. Conotruncal defects. Furthermore, aspirin or aspirin containing analgesics increased the risk for PVSD i.e. Peri-membranous Ventricular Defect in offspring when the mother uses these drugs 1-6 months prior to conception. Additionally, the risk for CVD i.e. critical valve disease were found to be increased when women were exposed to aspirin or aspirin containing analgesics during third trimester after pregnancy. In conclusion, maternal headache increased the risk for CHD by 20% and the use of headache medications specifically pain relievers during 1-6 months prior to conception modulated type of defect was observed.
28
Ferentzi, Hannah Christine [Verfasser]. "Development of Children with Congenital Heart Disease / Hannah Christine Ferentzi." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2019. http://d-nb.info/1202042694/34.
Testo completo
29
Lanz, Jonas. "Stroke in adults with congenital heart disease: Incidence and predictors." Thesis, McGill University, 2014. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=121595.
Testo completoAbstract (sommario):
Background: Stroke is an important cause of morbidity in adults with congenital heart disease (ACHD). However there is a lack of comprehensive data on the incidence and predictors of stroke in ACHD. Objective: To estimate the cumulative risk and incidence of stroke in ACHD, evaluate the role of different lesion categories and determine the most important predictors of stroke and their impact in ACHD. Methods: This retrospective study of 28,465 ACHD Quebec patients aged 18 to 64 years between 1998 and 2010 was based on aggregated province-wide administrative data. Lesions were classified as severe if they had a high probability of being associated with cyanosis or requiring early surgical intervention and as shunt lesions if defects primarily led to a mixture of oxygenated and deoxygenated blood; the remaining were categorized as right- and left-sided according to lateralization. In this dynamic cohort the cumulative incidence of stroke (ischemic and hemorrhagic combined) was adjusted for the competing risk of death and incidence rates were age- and sex-standardized to reference populations. Previously reported stroke-rates for women in the general population of Quebec in 2002 were 11 per 100,000 population for age-group 15-54 and 82 per 100,000 for age-group 55-64; corresponding rates for men were 18 per 100,000 (age-group 15-54) and 142 per 100,000 (age-group 55-64). By means of Cox proportional hazard (CPH) models with age as the time-scale and adjusted for classic cardiovascular risk factors the independent effect of different lesion categories was evaluated. The relevance of potential predictors was assessed in a nested case-control subcohort by a combination of stepwise model selection and Bayesian model averaging. To focus in on the absolute effect of newly diagnosed heart failure a propensity score matched cohort was created. The potential for information and selection bias was addressed by means of sensitivity analysis. Results: For an 18 year old patient the estimated overall cumulative risk of experiencing a stroke up to age 64 was 8.7% (95%-confidence interval (7.8 -9.5%). In males severe lesions accounted for the highest cumulative incidence with 16.2% (95%-CI: 10.3-21.2%), in females the left-sided lesions with 11.9% (95%-CI: 9.0-14.7%). Women had a 27% lower age-standardized stroke rate than men (incidence rate ratio: 0.73 (95%-CI: 0.60-0.88)). For females incidence rates age-standardized to the mid-year 2002 Quebec population were 11 per 100,000 population in age-group 20-54 and 82 per 100,000 in age-group 55-64; in males rates were 18 (age-group 20-54) and 142 per 100,000 (age-group 55-64) respectively. Contrasting severe to shunt lesions the hazard ratio (HR) of stroke was 3.10 (95%-CI: 2.05-4.51) for patients 18 to 44 years of age and 1.29 (0.80-2.01) for the 45 to 64 years old; for left-sided lesions HRs were 2.24 (1.51, 3.30) and 1.29 (0.98-1.69). Heart failure, diabetes, chronic kidney disease and lesion category emerged as the strongest predictors for stroke from Bayesian model averaging. Patients receiving their first diagnosis of heart failure had an absolute stroke risk of 6.7% (95%-CI 4.4-10.2%) over ten years of follow up compared to a risk of 3.1% (95%-CI: 2.0 – 4.9%) in non-heart failure patients (stratified log-rank test: p-value = 0.01); however CPH-analysis showed that the elevated risk was mainly contained in the first two years of follow-up.Conclusion: Stroke is 10 times more common in ACHD-patients than in the general population below age 55 and 2.5-4.5 times more common in patients aged 55 to 64. Severe and left-sided lesions are the lesion categories conveying the highest risk of stroke, in particular at younger age. Heart failure, diabetes and chronic kidney disease are the comorbidities with the strongest predictive ability for stroke. Further research is required to see if early detection and modifications of these risk factors may reduce the stroke rate in the ACHD population.<br>La base: Les accidents cérébro-vasculaires (ACV) sont une cause de morbidité dans les adultes avec des malformations cardiaque congénitales (AMCC). L'incidence et les prédicteurs de ACV ne sont investigés guère dans les AMCC. Les objéctives: L'éstimation du risque cumulatif et de l'incidence de ACV dans les AMCC et l'évaluation de la rôle des différentes catégories de lésion et des comorbidités comme prédicteurs de ACV. Les méthodes: C'était une étude rétrospective basé sur des donnée groupée administratives de 28,465 AMCC patients âgé 18 à 64 ans en Québec entre 1998 et 2010. Les lésions étaient categorisées comme sévère si elles auraient une haute probabilité de cyanose où de chirurgie, comme shunt si elles causent une mixture du sang oxygéné et désoxygéné. Le reste était dividé en raison de la latéralisation en droit et gauche. Le risque cumulatif de ACV (ischémique et hémorrhagique combinés) était ajusté pour le risque competitif de la morte. Les incidences obtenues étaient standardisées à l'âge et le sexe selon des populations de référence. Les incidences de ACV rapportés auparavant pour la population générale de Québéc étaient 11 par 100,000 pour les femmes agées 15 à 54 ans et 82 par 100,000 pour les 55 à 64 ans en 2002; pour les hommes il y avait 18 ACV par 100,000 (15 à 54 d'ans) et 142 par 100,000 (55 à 64 d'ans). L'effet independent des catégories de lésion était evalué en utilisant des modèles de Cox avec âge comme unité de temps et ajustées pour les facteurs de risque classiques. L'importance des facteurs de risque différents était examinée par une étude cas-témoins en appliquant une combination de séléction "stepwise" et Bayesian model averaging (BMA). Finalement le risque d'une ACV dans les patients avec une nouvelle diagnose d`insuffisance cardiaque était comparé avec des contrôles en utilisant "propensity score matching". Les résultats: Le risque cumulatif de subir une ACV au cours de la vie jusqu'à l'âge 64 pour un patient AMCC agé 18 ans était 8.7% (95%-intervalle de confiance: 7.8 -9.5%). Pour les hommes, les lésions sévères amènaient le risque plus haut avec 16.2% (10.3-21.2%), pour les femmes les lésions gauches (11.9% (9.0-14.7%). Les femmes ont eu un risque élevé par 27% pour cent en comparaison aux hommes (incidence rate ratio: 0.73 (0.60-0.88)). Pour les femmes l'incidence standardisée à la population de Québéc de 2002 était 11 par 100,000 pour les 20 à 54 d`âge et 82 par 100,000 pour les 55 à 64; pour les hommes l'incidence était 18 (agé 20 à 54 ans) et 142 par 100,000 (agé 55 à 64 ans). En reference aux lésions shunt, le hazard ratio (HR) de ACV était 3.10 (2.05-4.51)) pour les patients agées 18 à 44 ans et 1.29 (0.80-2.01) pour les 45 à 64 d'ans; pour les lésions gauches les HR étaient 2.24 (1.51-3.30) et 1.29 (0.98-1.69) respectivement. L`insuffisance cardiaque, le diabète, l'insuffisance rénales chronique et les catègories de lésion sont sorties comme prédicteurs de ACV plus fortes de l'analyse de BMA. Les AMCC qui ont recu une première diagnose d'insuffisance cardiaque auraient un risque absolu de 6.7% (4.4-10.2%) de subir une ACV au course de 10 ans à l'encontre des contrôles qui on eu un risque de 3.1% (95%-CI: 2.0 - 4.9%) (stratified log-rank test: p-value = 0.01); toutfois le risque élevé était concentré dans les deux premières années. Les conclusions: Au dessous de l'âge 55, ACV était environ 10 fois plus fréquent dans la population des AMCC par rapport à la population générale; au dessus de l'âge 55 ACV était 2.5 à 4.5 fois plus fréquént. Les lesions sévères et gauches étaient les catégories de lésion comportant le plus haut risque d'une ACV, surtout dans les jeunes adultes. L'insuffisance cardiaque, le diabète et l`insuffisance rénale chronique étaient les comorbidités avec une valeur plus prédictive. La recherche future doit montrer si une modification de ces prédicteurs peut réduire l'incidence de ACV dans la population des AMCC.
30
Fowler, David R. W. "Investigation of a critical chromosome 1q congenital heart disease region." Thesis, University of Southampton, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.418055.
Testo completo
31
Granados, Javier Tadeo. "Molecular genetics of congenital heart disease and Holt-Oram Syndrome." Thesis, University of Nottingham, 2006. http://eprints.nottingham.ac.uk/29865/.
Testo completoAbstract (sommario):
Heart development is a complex process which is regulated by molecular mechanisms still largely unknown. Disruptions in these processes cause congenital heart defect, that affects over 1 out of every 100 live births and is responsible for most antenatal losses. In the last few decades, several mutations have been shown to cause isolated as well as syndromic congenital heart defects and the genetic contribution to this pathology now is being recognized as important not only for the rare familial cases but also in regard to the much more complex multifactorial varieties of the disease. The work summarized in this thesis was mainly an effort to clarify the role of mutations of a particular gene, MYH6, in congenital heart disease. Recently, this gene was identified as responsible for a Mendelian variety of atrial septal defect. The other main subject of this thesis is the mutational analysis work done in order to identify a new gene, besides TBX5 and SALL4, for Holt-Cram Syndrome, a developmental disorder characterized for the coexistence of congenital heart defects with upper limb abnormalities. Four candidate genes within the most likely chromosomal interval have been screened and excluded as responsible genes.
32
Jowett, Victoria Charlotte. "Brain growth and development in fetuses with congenital heart disease." Thesis, Imperial College London, 2017. http://hdl.handle.net/10044/1/49448.
Testo completoAbstract (sommario):
Introduction and Objectives: In the current era of excellent surgical results for congenital heart disease (CHD), focus has become directed on quality of life for these children. Previous studies have shown that neurodevelopmental outcome in CHD is impaired. The mechanisms are incompletely understood but there is increasing evidence that the origins of this are in fetal life. This thesis aims to describe the in utero brain growth in a cohort of fetuses with CHD and relate this to the circulatory abnormalities and fetal Doppler parameters. Methods: Pregnant women with a fetus with CHD were prospectively recruited. The congenital heart defect was phenotyped using fetal echocardiography and patients subdivided into three physiological groups on the basis of the anticipated abnormality of cerebral blood flow and oxygen delivery: (1) isolated reduced flow to the brain; 2) reduced oxygen saturation of cerebral blood flow; (3) combination of reduced oxygen and flow. Fetal brain MRI was performed. In addition to standard biometric measurements, snapshot to volume reconstruction (SVR) was used to construct a 3D data set from the oversampled raw data. From these 3D volumes the total brain volume and ventricular volumes were measured by manual segmentation. Serial measurements of fetal growth were also made and umbilical artery and middle cerebral artery Doppler parameters were analysed. Results: 29 women were included; comparison was made with 83 normal MRI controls. Fetuses with CHD were found to have smaller brain volumes compared to controls when adjusting for advancing gestation (p < 0.01). This difference becomes more pronounced with advancing gestation, suggesting a slower rate of in utero brain growth. Measurements of growth found that the fetuses with CHD were smaller throughout gestation with a highly significant difference at the later growth scan. (p < 0.001). Cerebral and umbilical artery Doppler data showed evidence of reduced cerebrovascular resistance in fetuses with CHD but did not show a difference in the umbilical artery Doppler. Conclusion: Fetuses with CHD have evidence of impaired brain growth with advancing pregnancy and an increased rate of overall growth restriction. Doppler evidence of cerebral vasodilation supports the mechanism of reduced oxygen delivery as an underlying cause.
33
Ferentzi, Hannah [Verfasser]. "Development of Children with Congenital Heart Disease / Hannah Christine Ferentzi." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2019. http://d-nb.info/1202042694/34.
Testo completo
34
Benjamin, Moore. "Arrhythmias in Adult Congenital Heart Disease: Incidence, Mechanisms and Treatment." Thesis, The University of Sydney, 2021. https://hdl.handle.net/2123/26885.
Testo completoAbstract (sommario):
The life expectancy of patients with congenital heart disease (CHD) has significantly improved, due to advances in their paediatric medical and surgical care. As these patients survive into adulthood, underlying cardiac structural abnormalities and surgical sequelae create a marked predisposition to arrhythmias. Disabling symptoms, impaired quality of life and arrhythmic sudden death may result. Treatment strategies are often multimodality, but can incur their own iatrogenic morbidity.
In this thesis, we firstly analyse the incidence and clinical characteristics of sudden cardiac death in a contemporary adult CHD population. We then review long-term outcomes of implantable cardioverter defibrillators, the primary intervention to prevent sudden cardiac death. We evaluate the safety and efficacy of antiarrhythmic medication (amiodarone and sotalol) as a treatment strategy, in these relatively young patients with complex CHD. As a comparative approach, we assess the safety and efficacy of catheter ablation, as well as mechanisms of arrhythmia, in atriopulmonary Fontan hearts. In those congenital patients requiring pacing for bradyarrhythmia, we analyse the incidence and predictors of pacing-associated cardiomyopathy. Finally, we design a novel pilot study to assess the role of AV delay optimisation in ventricularly paced adults with CHD.
35
Blickle, Maximilian [Verfasser]. "School careers of children with congenital heart disease / Maximilian Blickle." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2020. http://d-nb.info/1212435524/34.
Testo completo
36
MELAZZINI, LUCA. "IMAGING BIOMARKERS OF CEREBRAL SMALL VESSEL DISEASE IN ADULTS WITH CONGENITAL HEART DISEASE." Doctoral thesis, Università degli Studi di Milano, 2021. http://hdl.handle.net/2434/805883.
Testo completoAbstract (sommario):
Aim
Imaging biomarkers in medical fields other than oncology tend to be confined to research settings. In neuroimaging, biomarkers of cerebral small vessel disease (SVD) have shown promising results for translation into the clinic but need further validation. In this work, we strove for a more clinically-oriented classification of one of the most representative of SVD biomarkers, i.e. white matter hyperintensities (WMHs), on a large cohort of community-dwelling subjects. We also used this
classification to better analyse signs of SVD in a selected population of adults with congenital heart disease. Lastly, we evaluated the steps to be taken for achieving standardisation of WMH assessment.
Cerebral small vessel disease in adults with tetralogy of Fallot: preliminary results
In this section we describe our exploratory research on a small sample of 10 adult patients with surgically corrected tetralogy of Fallot and 10 age- and sex-matched control subjects. Cerebral microbleeds were visible in every patient and in one control subject. Also, a significant correlation between WMH volume and severity of symptoms of heart failure was observed. Even though the aetiology of the observed findings remained obscure, cerebral microbleeds and WMHs may indicate an increased susceptibility to brain microvascular damage in congenital heart disease and have been deemed worthy of further investigations.
Imaging biomarkers of small vessel disease in adults with congenital heart disease: a systematic review
Considering our preliminary findings, we extensively reviewed the available literature on vascular injury in adults with congenital heart disease. We found few preliminary studies on this topic, all of which carried several methodological limitations. However, all studies reported a variety of brain vascular changes in the examined patients, ranging from signs of SVD to silent stroke and cortical atrophy. The assumption that these findings differ from those visible in children with heart defects needs to be confirmed. For this purpose, neuroimaging studies in adults with congenital heart disease are needed to differentiate past global lesion burden from present chronic ongoing cerebrovascular disease.
Automatic sub-classification of white matter hyperintensities: application to a large community-dwelling cohort
As WMH total volume is variably associated with cognition, we developed an automatic method to classify them into four categories according to lesion location (periventricular versus deep) and lesion intensity in T1 and T2-weighted sequences. We applied this method on brain scans from 684 older adults from the Whitehall II study. We also showed that periventricular white matter hyperintensities that appear hypointense in T1-weighted images were significantly associated with poorer performance in several cognitive tests in this cohort. Interestingly, we found no association between total WMH volume and cognition. These findings suggest that sub-classifying WMHs according to both location and intensity in T1-weighted images provides added value when studying the clinical correlates of this imaging biomarker.
Inconsistency in quantifying and reporting white matter hyperintensities volume: a systematic review
We tried to estimate a normative range for WMH volume in healthy ageing using the highest level of evidence. We meta-analysed 2743 healthy subjects’ WMH volume reported from 17 studies. Our results showed an extremely high heterogeneity across the examined studies. We thereby proposed methodological strategies needed to overcome the current inconsistency in WMH assessment, such as harmonisation of image acquisition and standardisation of anatomical definitions. Most importantly, effective communication between researchers and clinicians is strongly warranted to translate technical know-how for imaging biomarkers assessment into clinical practice.
The BACH Study
In view of our preliminary results and considering the dearth of scientific evidence on the topic of brain involvement in adults with congenital heart disease, we launched the Brain Aging in Congenital Heart disease (BACH) San Donato study. This multidisciplinary study comprises an extensive brain imaging protocol to investigate signs of small vessel disease and a thorough neuropsychological battery to test patients’ cognitive performance. We found that automatically-detected white matter hyperintensities located in the deep white matter were associated with poorer performance at the frontal assessment battery. Also, this study confirmed that patients had a much larger number of cerebral microbleeds than healthy controls.
Conclusions
In this thesis we showed that cerebral microbleeds are over-expressed in adult patients with congenital heart disease. Longitudinal studies will aid in clarifying the role of this and other biomarkers of SVD in predicting clinical outcomes. Meanwhile, much effort must be put into reaching standardisation of WMH assessment. Optimal characterisation of brain vascular health in congenital heart disease would enable physicians to adopt prompt strategies to prevent the risk of cognitive deterioration in this category of patients. Full translation of research findings into clinical practice would then be achieved.
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Eslami, Bahareh. "The Psychosocial Situation of Adults with Congenital Heart Disease in Iran." Doctoral thesis, Mittuniversitetet, Avdelningen för hälsovetenskap, 2013. http://urn.kb.se/resolve?urn=urn:nbn:se:miun:diva-20877.
Testo completoAbstract (sommario):
Background and objectives:Adults with congenital heart disease (CHD) are a new group of patients with a prevalence of 4 per 1000. They have evolved as a result of significant improvements in medical management during the past decades. However, adults with CHD experience various medical and social challenges that may influence their psychosocial functioning. Providing appropriate medical, rehabilitation and social care for adults with CHD, and indeed improving their well-being require the evaluation of their current psychosocial situation. This thesis aims to increase the understanding of the mental health, somatic symptoms, social support, style of coping, quality of life and life satisfaction of adults with CHD and to examine the possible contributing factors in the context of a developing country; issues not addressed in the current literature.Methods:This thesis is based on four studies. Study I recruited 347 consecutive CHD patients (18-64 years) from two heart hospitals in Tehran, Iran. The study iscross-sectional and focused on sex differences in socio-economic status, lifestyle and medical characteristics of adults with CHD. Studies II, III and IV havea cross-sectional case-control design comparing the aforementioned CHD patients with 353 non-CHD participants, matched by sex and age. Outcome variables were anxiety, depressive and somatic symptoms (Study II), styles of coping (Study III), and life satisfaction/quality of life (Study IV). The data were analysed with bivariate and multivariate methods. Multivariate linear regression analyses were performed to scrutinize the association of demographic/socio-economic variables, social support, mental health, and medical variables with the aforementioned outcome variables among adults with CHD (Studies II, III, IV). Results:Study I showed that women with CHD were more often married and had children and were less often employed, but had healthier behaviour compared to men. Even though most of the patients received regular medical viiicare from different typesof medical professionals, half of them had no knowledge about the type of their cardiac defect. Study II showed that CHD patients experienced more anxiety and somatic symptoms than the healthy controls, whereas there were no differences in depressive symptoms. Perceived financial strain, lower social support and low annual income were positively associated with worse outcome in mental health and somatic symptoms. None of the medical variables were related to anxiety, depressive and somatic symptoms. Study III showed that the styles of coping of the CHD patients were comparable to those of the control group and CHD per se was not associated with a certain style of coping, except for palliative reaction pattern. Problem-focused styles of coping were associated with being never married, parenthood, higher level of anxiety and somatic symptoms, lower level of depressive symptoms and higher social support. Emotion-focused styles of coping were associated with annual income and higher level of anxiety. None of theadopted coping strategies were related to the heart disease variables. Study IV showed that adults with CHD had poorer quality of life and lower life satisfaction than the control group. However, CHD was associated only with decreased overall quality of life and its physical health domain, and life and health satisfaction. Among CHD patients, higher quality of life was associated with female sex, younger age, employment status, having less emotional distress and higher social support, while life satisfaction was associated with female sex, being employed, less emotional distress and higher social support. Conclusions:The results support the notion that psychosocial factors contribute to the well-being of adults with CHD.Socio-economic factors, emotional health and social support are significant determinants in nearly all outcomes of interest which need to be considered by health care providers and policy makers in their efforts to improve the health ofadults with CHD. However, longitudinal studies are warranted to establish causal linksand qualitative studies are recommended to deepen the understanding of coping and quality of life.
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洪克賢 and Newman Hung. "Recovery kinetics in Chinese children with simple repaired congenital heart disease." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2001. http://hub.hku.hk/bib/B31257227.
Testo completo
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Priestley, Matthew David. "Detailed mapping of a congenital heart disease gene in chromosome 3p25." Thesis, University of Birmingham, 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.270058.
Testo completo
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Mellow, Tessa. "Bonding experiences in mothers of infants with severe congenital heart disease." Thesis, Royal Holloway, University of London, 2014. http://digirep.rhul.ac.uk/items/e3cc9ff4-6364-78a9-6912-8574e4494e34/1/.
Testo completoAbstract (sommario):
Mothers who have an infant with severe congenital heart disease (CHD) face an uncertain and emotionally challenging postpartum period as their baby is hospitalised and undergoes life-saving cardiac surgical treatment. There are many potential risk factors to mother-infant bonding, that is, the emotional tie a mother develops with her baby, in the context of infant illness. Having an infant with a diagnosis of severe CHD could be seen as a threat to the mother's experience of bonding. However, there is limited understanding about the maternal perception of bonding with an infant with severe CHD. This study aimed to explore mothers' bonding with their infant with severe CHD throughout antenatal, perinatal and postnatal periods and how they coped with any challenges to this bond. Interviews were conducted with eight mothers of infants aged between eight and fifteen months with severe CHD, who were recruited from a children's hospital and who were diagnosed either antenatally or postnatally. Interpretative Phenomenological Analysis was used to identify themes across the mothers' accounts. Four superordinant themes were identified: ‘An Emotional Start to Motherhood and the Mother-Infant Bond', ‘Losing Control in the Context of CHD', ‘Keeping Connected to the Baby' and ‘Moving on Together'. The findings identify mother-infant bonding as a process that can withstand challenges such as maternal-infant separation, potential loss of the infant and maternal feelings of disconnection from the baby. Practical strategies were used by mothers to maintain their bond with their infant following diagnosis and during hospitalisation. These included being close to their infant and taking over caregiving duties from the nurses. Mothers described strength and resilience from the experience and a process of increasingly feeling closer to their infant. Several potential research implications and clinical recommendations for healthcare professionals are suggested.
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Hung, Newman. "Recovery kinetics in Chinese children with simple repaired congenital heart disease /." Hong Kong : University of Hong Kong, 2001. http://sunzi.lib.hku.hk:8888/cgi-bin/hkuto%5Ftoc%5Fpdf?B23425386.
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Blue, Gillian Margaret. "The genetics of congenital heart disease: new genes, mechanisms and attitudes." Thesis, The University of Sydney, 2015. http://hdl.handle.net/2123/13695.
Testo completoAbstract (sommario):
Congenital Heart Disease (CHD) affects 6–8 per 1000 live births. It is the most common cause of death in newborn infants in the western world and places a significant burden on the affected individual and their families. Previous research suggests a strong genetic component and current understanding implicates both genetic and environmental contributions to disease development. The work presented here is translational; combining laboratory, clinical and psychosocial research strategies to inform current understanding of the genetics aspects of CHD as well as patient education and support. Next generation sequencing technology was applied to individuals affected by CHD and their families. This highlighted some of the complexities of using strategies such as exome sequencing in complex disease, prompting a more targeted and clinically-applicable approach through the development of a CHD gene panel. The gene panel identified the cause of CHD in 31% of the families analysed; thereby, for the first time, offering individuals with familial forms of CHD a realistic chance at a genetic diagnosis. In addition, this work also demonstrates the benefit of individualised genetic counselling in families affected by CHD, both in terms of improving knowledge on the genetic aspects of disease as well as improving psychosocial functioning.
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Smorra, Corinne. "Social Workers' Experiences With Interventions for Clients With Congenital Heart Disease." ScholarWorks, 2019. https://scholarworks.waldenu.edu/dissertations/7841.
Testo completoAbstract (sommario):
Many adults born with congenital heart disease (CHD) face long-term psychosocial issues related the disease. The purpose of this project was to better understand social workers' experiences with interventions for clients who have CHD and experience psychosocial problems. Bronfenbrenner's ecological theory was a basis for the research questions, which focused on clarifying social workers' experiences with interventions and identifying the ecological levels to which the interventions align. A narrative design with nonprobability sampling was used. Six social workers who counsel adults with CHD from 6 of the 109 U.S. CHD clinics participated in individual interviews. Interviews were transcribed, coded, and categorized using thematic analysis, then analyzed for new information, similarities, and differences. The most significant clinical and nonclinical interventions used by participants were financial assistance, health insurance support, and modalities for treating anxiety and depression. Social workers counseling adult CHD patients may benefit by having information from experienced CHD social workers that they can incorporate into their work with clients. Recommendations include (a) bolstering the number of social workers in private practice who specialize in adults with CHD to address the ongoing mental health needs of this population and (b) encouraging social action and awareness to adjust the guidelines set by government agencies so this population can qualify for better financial, health, and disability benefits. Implementation of these recommendations may have a positive social impact for adults living with CHD.
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Secchi, F. "CARDIOVASCULAR COMPUTED TOMOGRAPHY AND MAGNETIC RESONANCE IMAGING IN CONGENITAL HEART DISEASE." Doctoral thesis, Università degli Studi di Milano, 2017. http://hdl.handle.net/2434/470146.
Testo completoAbstract (sommario):
Cardiac magnetic resonance (CMR) is a non-invasive imaging modality highly reliable for studying cardiovascular morphology and function. Cardiac computed tomography (CCT) can give valuable anatomic information on CHD in children but implies radiation exposure, a relevant issue in children and newborns who are more radiosensitive than adult patients and have a longer lifetime to develop stochastic effects from radiation. We contributed to show the possibility to obtain an impressively low ionizing dose reduction in CHD patients also using standard 64-slice CT scanners. Conversely, CMR holds a pivotal role when functional and flow imaging is required. We showed the role of CMR in evaluating of patients percutaneously implanted with a pulmonary valve. Moreover, we proposed two new approaches for post-processing CMR images, regarding volume estimation of patients with a single ventricle, a rare CHD and a method for quantifying the paradoxical septal motion. CMR and CCT are two fundamental imaging techniques to evaluate patients with complex CHD. Both imaging modalities have limitations and advantages. CMR can evaluate heart function vessel flow but require a long acquisition time and in same patients a long sedation time. CCT has a very high spatial resolution and short acquisition time but implies ionizing radiation exposure. On the one side, we confirming the crucial role of CMR when function analysis is required but also showed the relevant possibilities of x-ray dose reduction in CCT, also using standard 64-slice scanners in the study of CHD patients.
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Lai, Tik-man Clare, and 賴迪雯. "Circulating biomarkers and right ventricular function in adolescents and young adults with congenital heart disease." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2014. http://hdl.handle.net/10722/197541.
Testo completoAbstract (sommario):
The population of adolescent and adults with congenital heart disease (CHD) has grown rapidly. Right ventricular (RV) dysfunction remains an important issue of concern in the long-term follow up of these patients. While circulating biomarkers have shown promise in the assessment and monitoring of adult patients with left heart diseases, little is known of the role of biomarkers in reflecting RV performance in CHD patients. Emerging circulating biomarkers that reflect underlying pathophysiologic processes have gained increasing attention. These include inflammatory cytokines namely tumour necrosis factor (TNF)-α, a biomarker of apoptosis annexin A5 (AnxA5), carboxy-terminal propeptide of type I procollagen (PICP) and amino-terminal propeptide of type III procollagen (PIIINP) that reflects collagen synthesis and turnover, low circulating levels of cardiac troponin T as detected by highly sensitive assay (hs-cTnT) that may reflect subclinical myocardial injury, and microRNAs found to be involved in cardiac remodeling. The studies in this thesis aimed to test the hypothesis that circulating biomarkers may be altered in patients with volume-overloaded right ventricles after repair of tetralogy (TOF) and pressure-overloaded right ventricles after atrial switch operation for complete transposition of the great arteries (TGA), and are related to indices of RV function.
In patients after TOF repair, increased circulating PICP and PIIINP levels were associated with worse subpulmonary RV and left ventricular (LV) function. In particular, these propeptides correlated positively with LV mechanical dyssynchrony, implicating a possible role of increased collagen synthesis in its pathogenesis. Increased plasma levels of hs-cTnT were further found in 30% of female, but not male patients. Female patients with elevated hs-cTnT levels compared to those without had greater RV volumes and LV mechanical dyssynchrony. Independent correlates of hs-cTnT in patients as determined from multivariate analysis were sex and RV ejection fraction. MicroRNA profiling following validation confirmed alteration of circulating levels of miR-99b and miR-766 in repaired TOF patients, a pattern distinct from that reported for left heart diseases. The miRNA expression was, however, not related to the cardiac functional indices.
Patients after atrial repair for TGA had significantly higher circulating AnxA5 and TNF-αlevels, but similar PICP, PIIINP levels, compared with controls. Elevated AnxA5 level was associated with impaired systemic RV myocardial deformation, increased subpulmonary ventricular eccentricity, and increased TNF-αlevel. Elevation of hs-cTnT is found in 39% of the patients. The positive correlation between hs-cTnT level and systemic RV volume may suggest a role of hs-cTnT in reflecting RV remodeling. Circulating microRNA expression profiling and further validation identified 11 upregulated microRNAs (miR-16, miR-106a, miR-144*, miR-18a, miR-25, miR-451, miR-486-3p, miR-486-5p, miR-505*, let-7e and miR-93). Among them, miR-18a and miR-486-5p correlated negatively with systemic ventricular myocardial acceleration during isovolumic contraction, a relatively-load independent measure of systemic RV contractility.
To conclude, these biomarkers reflect in varying extent the structural, functional, biological alteration of the subpulmonary and systemic right ventricles of the CHD patients late after surgical repair. These data may provide new perspectives in the understanding of progressive RV dysfunction in the adult CHD population and hopefully shed more lights on novel therapeutic interventions.<br>published_or_final_version<br>Paediatrics and Adolescent Medicine<br>Doctoral<br>Doctor of Philosophy
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Lawley, Claire Margaret. "Outcomes in structural heart disease in New South Wales, Australia: From paediatrics to pregnancy." Thesis, The University of Sydney, 2018. http://hdl.handle.net/2123/20465.
Testo completoAbstract (sommario):
Aim To characterise and explore the contemporary outcomes at key points in the life of individuals in New South Wales (NSW), Australia, who have undergone a procedure for structural heart disease. Methods The population with structural heart disease was identified and outcomes at key points in life were evaluated using different methodologies; record linkage, retrospective cohort study and systematic review. Health and education outcomes of children with structural heart disease were evaluated via population-based record-linkage cohort studies. The role of advanced imaging methods in managing structural heart disease in paediatrics was evaluated via literature review. A retrospective cohort study was used to evaluate individuals who had undergone a percutaneous pulmonary valve implantation for structural heart disease. Health outcomes of women (and their offspring) who had undergone a prosthetic heart valve placement prior to pregnancy were evaluated using population-based record-linkage studies, systematic review and meta-analysis Results The main findings of this thesis include: -Structural heart disease in NSW requiring procedural management in the first year of life affects 2.5 per 1 000 births. Immediate health outcomes such as length of stay and mortality are similar to other centers. -Children who have had a cardiac procedure demonstrate a greater incidence of poor education outcome. Sociodemographic risk factors and ongoing health status are the major predictors of educational outcomes. -Novel imaging strategies can aid diagnosis, monitoring and management in complex structural heart disease. -Percutaneous pulmonary valve implantation, for rehabilitation of the right ventricular outflow tract in structural heart disease, has a low risk of a serious adverse event and shorter length of stay than historical surgical options. -The risk of severe maternal morbidity, a cardiovascular event, preterm birth and small-for-gestation age infants remains higher for women with a heart valve prosthesis than a pregnancy in the general population. Conclusions From early childhood to adult life, including child bearing years, individuals who have undergone a cardiac procedure for structural heart disease remain at risk of altered health status. This includes additional hospitalisations, maternal morbidity as well as adverse developmental and educational outcomes compared to the general population. Contemporary data demonstrates improvements in some domains. Evolution in multi-disciplinary, life-long care provides hope for further ameliorating outcomes.
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Chan, Kin-wang, and 陳健宏. "Study of the in vivo role of TSPYL2 in transgenic mice." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2007. http://hub.hku.hk/bib/B38225049.
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Halling, Veronica. "Att vara förälder till ett barn med medfött hjärtfel : en litteraturstudie." Thesis, Högskolan Väst, Institutionen för omvårdnad, hälsa och kultur, 2012. http://urn.kb.se/resolve?urn=urn:nbn:se:hv:diva-4783.
Testo completoAbstract (sommario):
Introduction : Structural cardiac malformations affects 0.8-1% of children born worldwide, in Sweden 800-1000 children per year. Most children with congenital heart disease and their families will have frequent and lifelong contact with highly specialized care. Awareness of the parents experience is crucial in order to improve the nursing care. These experiences will be illustrated using a theoretical model of family-based nursing. Aim: The aim of this study was to describe experiences of being a parent to a child with a congenital heart disease. Method:A review of the literature was undertaken using systematic review principles. The search strategy included four electronic bibliographic databases, using the search terms experience, heart defects congenital, heart disease congenital, parent, parents and arenting. Nine studies focused on parent's experience. Seven used solely qualitative methodology and two studies used mixed methods. The analysis was performed and guided by qualitative content analysis. Results: Analysis of the nine studies on parents experience revealed two categories and six subcategories. The categories were: "feelings and need at the time of diagnosis" and "the time at home". Parents of children with congenital heart disease needed support from both health care and from their own social network. Their need was greatest at the time of diagnosis and surgery. Gradually everyday life stabilised. The result shows the parent's experience of anxiety and stress as a common path through the entire process. In time, the parents started to use different coping strategies to handle the situation. Conclusion: Nurses who meet parents of children with congenital heart disease should be aware of the need for repeated information, both oral and written. It is also important to provide information to siblings and relatives. Though familyfocused care the nurse can support parents in their parenting role and also include siblings. Sufficient information leads to better coping and parents feel more comfortable to take care of the sick child and their family.
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Chang, Sheng-Wei. "Deficits in Cardiomyocyte Proliferation: Contributors to Congenital Heart Defects." The Ohio State University, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=osu1397643835.
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Lange, Aleksandra. "Three-dimensional echocardiography for the assessment of congenital and acquired heart disease." Thesis, University of Edinburgh, 1999. http://hdl.handle.net/1842/26677.
Testo completoAbstract (sommario):
The work presented in this thesis has explored the hypotheses that three-dimensional echocardiography facilitates spatial recognition of intracardiac structures and therefore enhances the diagnostic confidence of echocardiography in congenital and acquired heart disease. The accuracy of three-dimensional reconstructions has been validated <I>in vitro</I> using two different phantoms and <I>in vivo</I> comparing the results with other established diagnostic techniques or surgical findings. Additionally, as the main limitation of transthoracic three-dimensional echocardiography is poor image quality in a substantial proportion of adult patients. Doppler myocardial imaging has been tested as a potentially superior method to conventional grey-scale imaging for transthoracic three-dimensional image acquisition. <I>In vivo</I>, the study was designed to compare the accuracy of grey-scale and Doppler myocardial imaging three-dimensional left ventricular volume measurements and cineventriculography. The differences were significantly smaller for the Doppler technique during both end-diastole and end-systole. A series of congenital heart lesions has also been studied. It has been shown that dynamic surgical reconstruction of the secundum atrial septal defect is feasible from the transthoracic approach in all patients. However, in adults, Doppler myocardial imaging proved more effective than grey-scale imaging in the accuracy of three-dimensional defect reconstruction. In patients with sinus venous atrial septal defect, transthoracic three-dimensional echocardiography was more accurate than standard echocardiography in diagnosing the defect including a detailed description of the abnormal pulmonary venous drainage. Finally, in children with atrio-ventricular septal defects, the 'unroofed' atrial reconstruction of the common valve accurately displayed dynamic valve morphology <I>en face</I> and the mechanism of valve reflux.