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Tesi sul tema "Congenital heart disease"

Autore: Grafiati

Pubblicato: 4 giugno 2021

Ultima modifica: 25 luglio 2025

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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.

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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

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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.

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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.

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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 h

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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/.

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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 p

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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/.

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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

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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/.

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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 the

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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.

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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.

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Abstract (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 an

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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.

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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.

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16

Hartill, Verity Laura. "Congenital heart disease gene identification by whole exome sequencing." Thesis, University of Leeds, 2017. http://etheses.whiterose.ac.uk/18531/.

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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 PIG

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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.

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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,

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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.

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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

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19

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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20

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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21

Cordina, Rachael Louise. "Pathophysiological Abnormalities in Adults with Complex Congenital Heart Disease." Thesis, The University of Sydney, 2013. http://hdl.handle.net/2123/9530.

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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

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22

Tesson, Stephanie. "Parent-child relationships following diagnosis of congenital heart disease." Thesis, The University of Sydney, 2021. https://hdl.handle.net/2123/26801.

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Abstract (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

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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.

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Abstract (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 co

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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.

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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.

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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 te

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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/.

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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.

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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

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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.

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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.

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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 sev

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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.

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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/.

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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

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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.

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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 pros

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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.

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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.

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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

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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.

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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.

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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

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37

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.

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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 m

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38

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.

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39

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.

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40

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/.

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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

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41

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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42

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.

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Abstract (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

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43

Smorra, Corinne. "Social Workers' Experiences With Interventions for Clients With Congenital Heart Disease." ScholarWorks, 2019. https://scholarworks.waldenu.edu/dissertations/7841.

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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 f

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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.

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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 p

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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.

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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 n

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46

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.

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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 manag

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47

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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48

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.

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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 undertake

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49

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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50

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.

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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 qua

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