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Статті в журналах з теми "Hypertrophic cardiomyopathy, gene mutations, QT"

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Автор: Grafiati

Опубліковано: 14 березня 2023

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1

Bezzerides, Vassilios J., Maksymilian Prondzynski, Lucie Carrier, and William T. Pu. "Gene therapy for inherited arrhythmias." Cardiovascular Research 116, no. 9 (April 22, 2020): 1635–50. http://dx.doi.org/10.1093/cvr/cvaa107.

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Abstract Inherited arrhythmias are disorders caused by one or more genetic mutations that increase the risk of arrhythmia, which result in life-long risk of sudden death. These mutations either primarily perturb electrophysiological homeostasis (e.g. long QT syndrome and catecholaminergic polymorphic ventricular tachycardia), cause structural disease that is closely associated with severe arrhythmias (e.g. hypertrophic cardiomyopathy), or cause a high propensity for arrhythmia in combination with altered myocardial structure and function (e.g. arrhythmogenic cardiomyopathy). Currently available therapies offer incomplete protection from arrhythmia and fail to alter disease progression. Recent studies suggest that gene therapies may provide potent, molecularly targeted options for at least a subset of inherited arrhythmias. Here, we provide an overview of gene therapy strategies, and review recent studies on gene therapies for catecholaminergic polymorphic ventricular tachycardia and hypertrophic cardiomyopathy caused by MYBPC3 mutations.

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2

Cava, Francesco, Ernesto Cristiano, Maria Lo Monaco, Maria Beatrice Musumeci, Camilla Savio, Simona Petrucci, Speranza Donatella Rubattu, Maria Piane, and Camillo Autore. "370 The CO-existence of KCNQ1 and TNNI3 genes mutations supports the genetic origin of QTC abnormalities in hypertrophic cardiomyopathy." European Heart Journal Supplements 22, Supplement_N (December 1, 2020): N83—N87. http://dx.doi.org/10.1093/eurheartj/suaa201.

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Abstract Hypertrophic cardiomyopathy (HCM) and Long QT Syndrome (LQTS) are inherited diseases characterized by a wide genetic heterogeneity. Based on the separate incidence of these pathologies and on the absence of linkage, the occurrence of both diseases in the same individual has an incidence of about 1/250000. We describe a rare case report of a 24 years-old patient with maternal familiarity for type 1 LQTS (mother carrier of KCNQ1 c.1781G>A) and paternal familiarity for HCM (father carrier of TNNI3 c.592C>G mutation) who inherited both gene mutations and was diagnosed with HCM and LQTS later in adolescence, after clinical and genetic evaluations.

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3

Huang, Pang-Shuo, Chia-Shan Hsieh, Sheng-Nan Chang, Jien-Jiun Chen, Fu-Chun Chiu, Cho-Kai Wu, Juey-Jen Hwang, Eric Y. Chuang, and Chia-Ti Tsai. "Prevalence of sudden arrhythmic death syndrome-related genetic mutations in an Asian cohort of whole genome sequence." EP Europace 22, no. 8 (June 28, 2020): 1287–97. http://dx.doi.org/10.1093/europace/euaa092.

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Abstract Aims Recently, the spectrum of background mutation in the genes implicated in sudden arrhythmic death syndrome (SADS), has been elucidated in the Caucasian populations. However, this information is largely unknown in the Asian populations. Methods and results We assessed the background rare variants (minor allele frequency < 0.01) of major SADS genes in whole genome sequence data of 1514 healthy Taiwanese subjects from the Taiwan Biobank. We found up to 45% of healthy subjects have a rare variant in at least one of the major SADS genes. Around 3.44% of healthy subjects had multiple mutations in one or multiple genes. The background mutation rates in long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, and arrhythmogenic right ventricular cardiomyopathy genes were similar, but those in Brugada syndrome (BrS) (SCN5A) and hypertrophic cardiomyopathy (HCM) genes (MYBPC3, MYH7, and TNNT2) were higher, compared to those reported in the Caucasian populations. Furthermore, the rate of incidental pathogenic variant was highest in MYBPC3 gene. Finally, the number of variant was proportional to the exon length of the gene (R2 = 0.486, P = 0.0056) but not related to its functional or evolutionary importance (degree of evolutionary conservation) (R2 = 0.0008, P = 0.9218), suggesting that the mutation was random. The ratio of variant number over exon nucleotide length was highest in MYBPC3, MYH7, and TNNT2 genes. Conclusion Unique features of background SADS gene mutation in the Asian populations include higher prevalence of incidental variant in HCM, BrS, and long QT 3 (SCN5A) genes. HCM genes have the highest variant number per exon length.

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4

Alonso-Barroso, Esmeralda, Belén Pérez, Lourdes Ruiz Desviat, and Eva Richard. "Cardiomyocytes Derived from Induced Pluripotent Stem Cells as a Disease Model for Propionic Acidemia." International Journal of Molecular Sciences 22, no. 3 (January 25, 2021): 1161. http://dx.doi.org/10.3390/ijms22031161.

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Propionic acidemia (PA), one of the most frequent life-threatening organic acidemias, is caused by mutations in either the PCCA or PCCB genes encoding both subunits of the mitochondrial propionyl-CoA carboxylase (PCC) enzyme. Cardiac alterations (hypertrophy, dilated cardiomyopathy, long QT) are one of the major causes of mortality in patients surviving the neonatal period. To overcome limitations of current cellular models of PA, we generated induced pluripotent stem cells (iPSCs) from a PA patient with defects in the PCCA gene, and successfully differentiated them into cardiomyocytes. PCCA iPSC-derived cardiomyocytes exhibited reduced oxygen consumption, an accumulation of residual bodies and lipid droplets, and increased ribosomal biogenesis. Furthermore, we found increased protein levels of HERP, GRP78, GRP75, SIG-1R and MFN2, suggesting endoplasmic reticulum stress and calcium perturbations in these cells. We also analyzed a series of heart-enriched miRNAs previously found deregulated in the heart tissue of a PA murine model and confirmed their altered expression. Our novel results show that PA iPSC-cardiomyocytes represent a promising model for investigating the pathological mechanisms underlying PA cardiomyopathies, also serving as an ex vivo platform for therapeutic evaluation.

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5

Arad, Michael, Manual Penas-Lado, Lorenzo Monserrat, Barry J. Maron, Mark Sherrid, Carolyn Y. Ho, Scott Barr, et al. "Gene Mutations in Apical Hypertrophic Cardiomyopathy." Circulation 112, no. 18 (November 2005): 2805–11. http://dx.doi.org/10.1161/circulationaha.105.547448.

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6

Hayashi, Takeharu, Takuro Arimura, Manatsu Itoh-Satoh, Kazuo Ueda, Shigeru Hohda, Natsuko Inagaki, Megumi Takahashi, et al. "Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy." Journal of the American College of Cardiology 44, no. 11 (December 2004): 2192–201. http://dx.doi.org/10.1016/j.jacc.2004.08.058.

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7

Hayashi, T., T. Arimura, and M. Itoh-Satoh. "Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy." ACC Current Journal Review 14, no. 4 (April 2005): 62–63. http://dx.doi.org/10.1016/j.accreview.2005.03.035.

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8

Seidman, Christine E., and J. G. Seidman. "Identifying Sarcomere Gene Mutations in Hypertrophic Cardiomyopathy." Circulation Research 108, no. 6 (March 18, 2011): 743–50. http://dx.doi.org/10.1161/circresaha.110.223834.

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9

Radbill, Andrew E., Lucy Y. Lei, Sachin Y. Paranjape, Daniel J. Blackwell, Robert L. Abraham, Derek S. Chew, Satish R. Raj, and Björn C. Knollmann. "Assessment of dynamic cardiac repolarization and contractility in patients with hypertrophic cardiomyopathy." PLOS ONE 16, no. 2 (February 11, 2021): e0246768. http://dx.doi.org/10.1371/journal.pone.0246768.

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Aims Arrhythmia mechanisms in hypertrophic cardiomyopathy remain uncertain. Preclinical models suggest hypertrophic cardiomyopathy-linked mutations perturb sarcomere length-dependent activation, alter cardiac repolarization in rate-dependent fashion and potentiate triggered electrical activity. This study was designed to assess rate-dependence of clinical surrogates of contractility and repolarization in humans with hypertrophic cardiomyopathy. Methods All participants had a cardiac implantable device capable of atrial pacing. Cases had clinical diagnosis of hypertrophic cardiomyopathy, controls were age-matched. Continuous electrocardiogram and blood pressure were recorded during and immediately after 30 second pacing trains delivered at increasing rates. Results Nine hypertrophic cardiomyopathy patients and 10 controls were enrolled (47% female, median 55 years), with similar baseline QRS duration, QT interval and blood pressure. Median septal thickness in hypertrophic cardiomyopathy patients was 18mm; 33% of hypertrophic cardiomyopathy patients had peak sub-aortic velocity >50mmHg. Ventricular ectopy occurred during or immediately after pacing trains in 4/9 hypertrophic cardiomyopathy patients and 0/10 controls (P = 0.03). During delivery of steady rate pacing across a range of cycle lengths, the QT-RR relationship was not statistically different between HCM and control groups; no differences were seen in subgroup analysis of patients with or without intact AV node conduction. Similarly, there was no difference between groups in the QT interval of the first post-pause recovery beat after pacing trains. No statistically significant differences were seen in surrogate measures for cardiac contractility. Conclusion Rapid pacing trains triggered ventricular ectopy in hypertrophic cardiomyopathy patients, but not controls. This finding aligns with pre-clinical descriptions of excessive cardiomyocyte calcium loading during rapid pacing, increased post-pause sarcoplasmic reticulum calcium release, and subsequent calcium-triggered activity. Normal contractility at all diastolic intervals argues against clinical significance of altered length-dependent myofilament activation.

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10

Škvor, J., and P. Čapek. "Hypertrophic Cardiomyopathy." Methods of Information in Medicine 45, no. 02 (2006): 169–72. http://dx.doi.org/10.1055/s-0038-1634062.

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Summary Objectives: Our research is a pilot study that specializes in the molecular genetic investigation of the TNNT2 gene in Czech patients with HCM/FHC disease. This study was initiated with exons 9 and 11 of TNNT2 because of their crucial role in the binding ability of cardiac troponin T to α-tropomyosin, and continued with analyses in other regions of the gene. Methods: Hundred and eighty-one Czech probands with HCM/FHC were enrolled in this study. The study group consisted of 24 families with FHC and probands without FHC history but with HCM diagnosis. The clinical diagnosis was based on echocardiography. DNA was isolated from peripheral blood lymphocytes and subsequently analyzed by the polymerase chain reaction (PCR), followed by DNA sequencing analyses, which were cross-sequenced. Results: The ΔGlu160 mutation was observed in a sequence of the TNNT2 gene in a patient with the severe form of hypertrophic cardiomyopathy. No sequence alteration was found in exons 9 and 11 of the TNNT2 gene found in the rest of the DNA samples. Conclusion: The ΔGlu160 mutation was observed in patients with severe forms of hypertrophic cardiomyopathy. This region is responsible for binding troponin T to α-tropomyosin. This mutation may lead to functional and structural effects on the troponin T protein. Mutations in this region are reported relatively rarely and therefore it was unique to observe the ΔGlu160 mutation in our study.

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11

Masum, Md Mohiuddin, Md Abdullah Al Sayeef, Rayhan Shahrear, Devjani Banik, Gonopati Biswas, and Zinnat Ara Yesmin. "Hypertrophic Cardiomyopathy: The Molecular Genetics." Faridpur Medical College Journal 14, no. 1 (March 26, 2020): 44–49. http://dx.doi.org/10.3329/fmcj.v14i1.46168.

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Hypertrophic Cardiomyopathy (HCM) is the common monogenic form familial pathological cardiac hypertrophy. HCM is an important cause of sudden cardiac death in the young adult and a major cause of morbidity in the elderly. We discuss here the molecular genetics and recent advances in the molecular genetics of HCM. HCM became the first cardiac disease for which a molecular genetic mechanism was identified. More than 100 mutations in nine genes, that encoding sarcomeric proteins have been identified in patients with HCM, which had led to the belief that HCM is a disease of contractile sarcomeric proteins of the cardiac muscle. Approximately two-thirds of all HCM cases are caused by the mutation of the myosin heavy chain (MyHC), cardiac troponin T (cTnT) and myosin binding protein-C (MyBP-C). Genotype-phenotype correlation studies suggest that mutations in the MyHC gene are associated with more extensive hypertrophy and a higher risk of SCD as compared to mutations in genes coding for other sarcomeric proteins, such as MyBP-C and cTnT. However, there is a noteworthy variability and factors, such as modifier genes and probably the environmental factors affect the phenotypic expression of HCM. The results of different functional studies suggest that in spite of the variety of the mutations, the initial defects in HCM is abnormal cardiac myocyte function. In this era of genetics and upcoming future of precision medicine, good knowledge of its molecular basis of any disease is crucial for patient management, and HCM is not different. Faridpur Med. Coll. J. Jan 2019;14(1): 44-49

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12

Tran Vu, Minh Thu, Thuy Vy Nguyen, Nha Van Huynh, Hoang Tam Nguyen Thai, Vinh Pham Nguyen, and Thuy Duong Ho Huynh. "Presence of Hypertrophic Cardiomyopathy Related Gene Mutations and Clinical Manifestations in Vietnamese Patients With Hypertrophic Cardiomyopathy." Circulation Journal 83, no. 9 (August 23, 2019): 1908–16. http://dx.doi.org/10.1253/circj.cj-19-0190.

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13

Monda, Emanuele, Martina Caiazza, and Giuseppe Limongelli. "The Expanding Spectrum of FLNC Cardiomyopathy." Cardiogenetics 12, no. 4 (November 22, 2022): 276–77. http://dx.doi.org/10.3390/cardiogenetics12040027.

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14

Chung, Wendy K., Carrie Kitner, and Barry J. Maron. "Novel frameshift mutation in Troponin C (TNNC1) associated with hypertrophic cardiomyopathy and sudden death." Cardiology in the Young 21, no. 3 (January 25, 2011): 345–48. http://dx.doi.org/10.1017/s1047951110001927.

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AbstractPurposeHypertrophic cardiomyopathy is the most common cause of sudden death in young people, including trained athletes, and is caused by mutations in genes encoding proteins of the cardiac sarcomere. Mutations in the Troponin C gene (TNNC1) are a rare genetic cause of hypertrophic cardiomyopathy. We describe a novel type of mutation (c.363dupG) in Troponin C, a rare form of hypertrophic cardiomyopathy.MethodsA family in which a 19-year-old asymptomatic male died of sudden cardiac death due to hypertrophic cardiomyopathy was genetically studied by sequencing 17 genes associated with hypertrophic cardiomyopathy or its phenocopies.ResultsA c.363dupG mutation in Troponin C was identified, and tested across the family.ConclusionsWe report the first frameshift mutation (c.363dupG or p.Gln122AlafsX30) in Troponin C causing hypertrophic cardiomyopathy (and sudden cardiac death) in a 19-year-old male, and have demonstrated that the mutation segregates with hypertrophic cardiomyopathy within the family.

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15

Kargaran, Parisa K., Jared M. Evans, Sara E. Bodbin, James G. W. Smith, Timothy J. Nelson, Chris Denning, and Diogo Mosqueira. "Mitochondrial DNA: Hotspot for Potential Gene Modifiers Regulating Hypertrophic Cardiomyopathy." Journal of Clinical Medicine 9, no. 8 (July 23, 2020): 2349. http://dx.doi.org/10.3390/jcm9082349.

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Hypertrophic cardiomyopathy (HCM) is a prevalent and untreatable cardiovascular disease with a highly complex clinical and genetic causation. HCM patients bearing similar sarcomeric mutations display variable clinical outcomes, implying the involvement of gene modifiers that regulate disease progression. As individuals exhibiting mutations in mitochondrial DNA (mtDNA) present cardiac phenotypes, the mitochondrial genome is a promising candidate to harbor gene modifiers of HCM. Herein, we sequenced the mtDNA of isogenic pluripotent stem cell-cardiomyocyte models of HCM focusing on two sarcomeric mutations. This approach was extended to unrelated patient families totaling 52 cell lines. By correlating cellular and clinical phenotypes with mtDNA sequencing, potentially HCM-protective or -aggravator mtDNA variants were identified. These novel mutations were mostly located in the non-coding control region of the mtDNA and did not overlap with those of other mitochondrial diseases. Analysis of unrelated patients highlighted family-specific mtDNA variants, while others were common in particular population haplogroups. Further validation of mtDNA variants as gene modifiers is warranted but limited by the technically challenging methods of editing the mitochondrial genome. Future molecular characterization of these mtDNA variants in the context of HCM may identify novel treatments and facilitate genetic screening in cardiomyopathy patients towards more efficient treatment options.

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16

Richard, Pascale, Richard Isnard, Lucie Carrier, Olivier Dubourg, Yves Donatien, Bénédicte Mathieu, Gisèle Bonne та ін. "Double heterozygosity for mutations in the β-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy". Journal of Medical Genetics 36, № 7 (1 липня 1999): 542–45. http://dx.doi.org/10.1136/jmg.36.7.542.

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Familial hypertrophic cardiomyopathy is a genetically heterogeneous autosomal dominant disease, caused by mutations in several sarcomeric protein genes. So far, seven genes have been shown to be associated with the disease with the β-myosin heavy chain (MYH7) and the cardiac myosin binding protein C (MYBPC3) genes being the most frequently involved.We performed electrocardiography (ECG) and echocardiography in 15 subjects with hypertrophic cardiomyopathy from a French Caribbean family. Genetic analyses were performed on genomic DNA by haplotype analysis with microsatellite markers at each locus involved and mutation screening by single strand conformation polymorphism analysis. Based on ECG and echocardiography, eight subjects were affected and presented a classical phenotype of hypertrophic cardiomyopathy. Two new mutations cosegregating with the disease were found, one located in the MYH7 gene exon 15 (Glu483Lys) and the other in the MYBPC3 gene exon 30 (Glu1096 termination codon). Four affected subjects carried the MYH7 gene mutation, two the MYBPC3 gene mutation, and two were doubly heterozygous for the two mutations. The doubly heterozygous patients exhibited marked left ventricular hypertrophy, which was significantly greater than in the other affected subjects.We report for the first time the simultaneous presence of two pathological mutations in two different genes in the context of familial hypertrophic cardiomyopathy. This double heterozygosity is not lethal but is associated with a more severe phenotype.

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17

McNally, Elizabeth M. "β-Myosin Heavy Chain Gene Mutations in Familial Hypertrophic Cardiomyopathy". Circulation Research 90, № 3 (22 лютого 2002): 246–47. http://dx.doi.org/10.1161/res.90.3.246.

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18

Arimura, Takuro, J. Martijn Bos, Akinori Sato, Toru Kubo, Hiroshi Okamoto, Hirofumi Nishi, Haruhito Harada, et al. "Cardiac Ankyrin Repeat Protein Gene (ANKRD1) Mutations in Hypertrophic Cardiomyopathy." Journal of the American College of Cardiology 54, no. 4 (July 2009): 334–42. http://dx.doi.org/10.1016/j.jacc.2008.12.082.

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19

Gruner, Christiane, Melanie Care, Katherine Siminovitch, Gil Moravsky, E. Douglas Wigle, Anna Woo, and Harry Rakowski. "Sarcomere Protein Gene Mutations in Patients With Apical Hypertrophic Cardiomyopathy." Circulation: Cardiovascular Genetics 4, no. 3 (June 2011): 288–95. http://dx.doi.org/10.1161/circgenetics.110.958835.

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20

Niimura, Hideshi, Kristen K. Patton, William J. McKenna, Johann Soults, Barry J. Maron, J. G. Seidman, and Christine E. Seidman. "Sarcomere Protein Gene Mutations in Hypertrophic Cardiomyopathy of the Elderly." Circulation 105, no. 4 (January 29, 2002): 446–51. http://dx.doi.org/10.1161/hc0402.102990.

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21

Bos, J. Martijn, Malayannan Subramaniam, John R. Hawse, Imke Christiaans, Nalini M. Rajamannan, Joseph J. Maleszewski, William D. Edwards, Arthur A. M. Wilde, Thomas C. Spelsberg та Michael J. Ackerman. "TGFβ-inducible early gene-1 (TIEG1) mutations in hypertrophic cardiomyopathy". Journal of Cellular Biochemistry 113, № 6 (10 квітня 2012): 1896–903. http://dx.doi.org/10.1002/jcb.24058.

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22

Wang, Jing, Rui-Qi Guo, Jian-Ying Guo, Lei Zuo, Chang-Hui Lei, Hong Shao, Li-Feng Wang, Yan-Min Zhang, and Li-Wen Liu. "Investigation of myocardial dysfunction using three-dimensional speckle tracking echocardiography in a genetic positive hypertrophic cardiomyopathy Chinese family." Cardiology in the Young 28, no. 9 (July 6, 2018): 1106–14. http://dx.doi.org/10.1017/s1047951118000860.

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AbstractBackgroundWe previously reported four heterozygous missense mutations of MYH7, KCNQ1, MYLK2, and TMEM70 in a single three-generation Chinese family with dual Long QT and hypertrophic cardiomyopathy phenotypes for the first time. However, the clinical course among the family members was various, and the potential myocardial dysfunction has not been investigated.ObjectivesThe objective of this study was to investigate the echocardiographic and electrocardiographic characteristics in a genetic positive Chinese family with hypertrophic cardiomyopathy and further to explore the association between myocardial dysfunction and electric activity, and the identified mutations.MethodsA comprehensive echocardiogram – standard two-dimensional Doppler echocardiography and three-dimensional speckle tracking echocardiography – and electrocardiogram were obtained for members in this family.ResultsAs previously reported, four missense mutations – MYH7-H1717Q, KCNQ1-R190W, MYLK2-K324E, and TMEM70-I147T – were identified in this family. The MYH7-H1717Q mutation carriers had significantly increased left ventricular mass indices, elevated E/e’ ratio, deteriorated global longitudinal stain, but enhanced global circumferential and radial strain compared with those in non-mutation patients (all p<0.05). The KCNQ1-R190W carriers showed significantly prolonged QTc intervals, and the MYLK2-K324E mutation carriers showed inverted T-waves (both p<0.05). However, the TMEM70-I147T mutation carriers had similar echocardiography and electrocardiographic data as non-mutation patients.ConclusionsThree of the identified four mutations had potential pathogenic effects in this family: MYH7-H1717Q was associated with increased left ventricular thickness, elevated left ventricular filling pressure, and altered myocardial deformation; KCNQ1-R190W and MYLK2-K324E mutations were correlated with electrocardiographic abnormalities reflected in long QT phenotype and inverted T-waves, respectively.

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Vullaganti, Sirish, Jonathan Levine, Nisha Raiker, Amer Ahmed Syed, Jeremy D. Collins, James C. Carr, Robert O. Bonow, and Lubna Choudhury. "Fibrosis in Hypertrophic Cardiomyopathy Patients With and Without Sarcomere Gene Mutations." Heart, Lung and Circulation 30, no. 10 (October 2021): 1496–501. http://dx.doi.org/10.1016/j.hlc.2021.04.008.

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24

Kimura, Akinori, Haruhito Harada, Jeong-Euy Park, Hirofumi Nishi, Manatsu Satoh, Megumi Takahashi, Shitoshi Hiroi, et al. "Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy." Nature Genetics 16, no. 4 (August 1997): 379–82. http://dx.doi.org/10.1038/ng0897-379.

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Sri, Anita, Piers Daubeney, Sanjay Prasad, John Baksi, Maria Kinali, and Inga Voges. "A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 Mutations." Case Reports in Pediatrics 2019 (March 26, 2019): 1–7. http://dx.doi.org/10.1155/2019/7640140.

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Background. PRKAG2 is a rare autosomal dominant syndrome that mainly presents with hypertrophic cardiomyopathy, ventricular preexcitation, and conduction abnormalities. This case report demonstrates that the PRKAG2 mutation presents with various phenotypes already in pediatric patients. Case Summary. We describe the clinical and investigative findings in two families with a PRKAG2 mutation from the different variants in the gene on chromosome 7q36.1, emphasising that the variability of phenotypes and that presentation in childhood is common. Furthermore, we highlight that skeletal myopathy and hypertrophic cardiomyopathy are significant debilitating characteristics of the PRKAG2 mutation. Conclusion. In our report of adult and pediatric patients, early presentation in childhood with hypertrophic cardiomyopathy and skeletal muscle involvement was common, demonstrating the challenges of the clinical management of PRKAG2 mutations.

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Mahadevaiah, Guruprasad, Manoj Gupta, and Ravi Ashwath. "Down Syndrome with Complete Atrioventricular Septal Defect, Hypertrophic Cardiomyopathy, and Pulmonary Vein Stenosis." Texas Heart Institute Journal 42, no. 5 (October 1, 2015): 458–61. http://dx.doi.org/10.14503/thij-14-4256.

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The prevalence of congenital heart disease in infants with Down syndrome is 40%, compared with 0.3% in children who have normal chromosomes. Atrioventricular and ventricular septal defects are often associated with chromosomal aberrations, such as in trisomy 21, whereas hypertrophic cardiomyopathy is chiefly thought to be secondary to specific gene mutations. We found only one reported case of congenital hypertrophic cardiomyopathy and atrioventricular septal defect in an infant with Down syndrome. Here, we report atrioventricular septal defect, hypertrophic cardiomyopathy, and pulmonary vein stenosis in a neonate with Down syndrome—an apparently unique combination. In addition, we discuss the relevant medical literature.

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Gao, Jun, John Collyer, Maochun Wang, Fengping Sun, and Fuyi Xu. "Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq." International Journal of Molecular Sciences 21, no. 9 (April 25, 2020): 3040. http://dx.doi.org/10.3390/ijms21093040.

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Hypertrophic cardiomyopathy (HCM) is an inherited disorder of the myocardium, and pathogenic mutations in the sarcomere genes myosin heavy chain 7 (MYH7) and myosin-binding protein C (MYBPC3) explain 60%–70% of observed clinical cases. The heterogeneity of phenotypes observed in HCM patients, however, suggests that novel causative genes or genetic modifiers likely exist. Here, we systemically evaluated RNA-seq data from 28 HCM patients and 9 healthy controls with pathogenic variant identification, differential expression analysis, and gene co-expression and protein–protein interaction network analyses. We identified 43 potential pathogenic variants in 19 genes in 24 HCM patients. Genes with more than one variant included the following: MYBPC3, TTN, MYH7, PSEN2, and LDB3. A total of 2538 protein-coding genes, six microRNAs (miRNAs), and 1617 long noncoding RNAs (lncRNAs) were identified differentially expressed between the groups, including several well-characterized cardiomyopathy-related genes (ANKRD1, FHL2, TGFB3, miR-30d, and miR-154). Gene enrichment analysis revealed that those genes are significantly involved in heart development and physiology. Furthermore, we highlighted four subnetworks: mtDNA-subnetwork, DSP-subnetwork, MYH7-subnetwork, and MYBPC3-subnetwork, which could play significant roles in the progression of HCM. Our findings further illustrate that HCM is a complex disease, which results from mutations in multiple protein-coding genes, modulation by non-coding RNAs and perturbations in gene networks.

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Butt, Mohammad Omar, Lisa Ezegbu, and Inga Robbins. "LEFT VENTRICULAR NON-COMPACTION AND HYPERTROPHIC CARDIOMYOPATHY - AN INTERPLAY OF GENE MUTATIONS." Journal of the American College of Cardiology 77, no. 18 (May 2021): 2182. http://dx.doi.org/10.1016/s0735-1097(21)03537-3.

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29

Mogensen, J. "Clinical and genetic characteristics of cardiac actin gene mutations in hypertrophic cardiomyopathy." Journal of Medical Genetics 41, no. 1 (January 1, 2004): 10e—10. http://dx.doi.org/10.1136/jmg.2003.010447.

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30

Chung, Hyemoon, Jong-Youn Kim, Pil-Ki Min, Young Won Yoon, Byoung Kwon Lee, Bum-Kee Hong, Se-Joong Rim, Hyuck Moon Kwon, and Eui-Young Choi. "DIFFERENT CONTRIBUTION OF SARCOMERE AND MITOCHONDRIA RELATED GENE MUTATIONS TO HYPERTROPHIC CARDIOMYOPATHY." Journal of the American College of Cardiology 71, no. 11 (March 2018): A901. http://dx.doi.org/10.1016/s0735-1097(18)31442-6.

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31

Chida, Ayako, Kei Inai, Hiroki Sato, Eriko Shimada, Tsutomu Nishizawa, Mitsuyo Shimada, Michiko Furutani, et al. "Prognostic predictive value of gene mutations in Japanese patients with hypertrophic cardiomyopathy." Heart and Vessels 32, no. 6 (November 24, 2016): 700–707. http://dx.doi.org/10.1007/s00380-016-0920-0.

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32

Wang, Hu, Zhaohui Li, Jizheng Wang, Kai Sun, Qiqiong Cui, Lei Song, Yubao Zou, et al. "Mutations in NEXN, a Z-Disc Gene, Are Associated with Hypertrophic Cardiomyopathy." American Journal of Human Genetics 87, no. 5 (November 2010): 687–93. http://dx.doi.org/10.1016/j.ajhg.2010.10.002.

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33

Kaski, Juan Pablo, Petros Syrris, Maria Teresa Tome Esteban, Sharon Jenkins, Antonios Pantazis, John E. Deanfield, William J. McKenna, and Perry M. Elliott. "Prevalence of Sarcomere Protein Gene Mutations in Preadolescent Children With Hypertrophic Cardiomyopathy." Circulation: Cardiovascular Genetics 2, no. 5 (October 2009): 436–41. http://dx.doi.org/10.1161/circgenetics.108.821314.

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34

Greber-Platzer, Susanne, Manfred Marx, Christine Fleischmann, Christa Suppan, Maria Dobner, and Maria Wimmer. "Beta-myosin Heavy Chain Gene Mutations and Hypertrophic Cardiomyopathy in Austrian Children." Journal of Molecular and Cellular Cardiology 33, no. 1 (January 2001): 141–48. http://dx.doi.org/10.1006/jmcc.2000.1287.

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35

Salakhov, R. R., M. V. Golubenko, E. N. Pavlukova, A. N. Kucher, N. P. Babushkina, N. R. Valiahmetov, A. V. Markov, E. O. Belyaeva, A. F. Kanev, and M. S. Nazarenko. "Experience in genetic testing of hypertrophic cardiomyopathy using nanopore DNA sequencing." Russian Journal of Cardiology 26, no. 10 (November 22, 2021): 4673. http://dx.doi.org/10.15829/1560-4071-2021-4673.

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Анотація:

Aim. To investigate the application of the Oxford Nanopore Technologies’ third generation sequencing for the genetic testing of hypertrophic cardiomyopathy.Material and methods. The study involved 12 patients with hypertrophic cardiomyopathy aged 18 to 67 years (women, 9; men, 3). Using the PCR barcoding amplicons (SQK-LSK109) protocol, DNA libraries were created which contained long-range PCR fragments of the MYH7, MYBPC3, TNNT2, TNNI3 and TPM1 genes. The sequencing was performed using the MinION system by Oxford Nanopore Technologies (UK). Bioinformatic algorithms for data analysis included Guppy v.5.0.7, Nanopolish and Clairvoyante. The identified genetic variants were confirmed by Sanger sequencing.Results. Data on the complete sequence of the five major sarcomeric genes for hypertrophic cardiomyopathy were obtained. We found eight potentially disease-causing sequence variants in MYH7, MYBPC3 and TNNT2 genes by monomolecular sequencing. However, only three mutations p.Arg243Cys, p.Tyr609Asn, p.Arg870His in the MYH7 gene, and one mutation p.Lys985Asn in the MYBPC3 were confirmed by Sanger sequencing. Cascade screening of pathogenic variant p.Arg870His in the MYH7 gene was performed. We found one asymptomatic carrier.Conclusion. It appears that monomolecular sequencing technology is a feasible approach to identify mutations in patients with hypertrophic cardiomyopathy. Although improvement in accuracy of DNA sequencing, as well as optimization and simplification of bioinformatic algorithms for identification of the genetic variants are needed.

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36

Mazurová, S., M. Tesařová, M. Magner, H. Houšťková, H. Hansíková, J. Augustínová, V. Tomek, A. Vondráčková, J. Zeman, and Tomáš Honzík. "Novel Mutations in the TAZ Gene in Patients with Barth Syndrome." Prague Medical Report 114, no. 3 (2013): 139–53. http://dx.doi.org/10.14712/23362936.2014.16.

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Анотація:

Barth syndrome is an X-linked recessive disorder that is caused by mutations in Taffazin gene (TAZ), leading to severe cardiolipin deficiency which results in respiratory chain dysfunction. Barth syndrome is characterized by cardiomyopathy, neutropenia, skeletal myopathy, growth deficiency and 3-methylglutaconic aciduria. In this paper, we present clinical, biochemical and molecular data of the first four Czech patients from four unrelated families diagnosed with this rare disease. The mean age of onset was 5.5 ± 3.8 months. One child suffered from sudden cardiac death at the age of 2 years, the age of living patients is between 3 and 13 years. Muscle hypotonia was present in all four patients; cardiomyopathy and growth retardation in three and neutropenia in two of them. Two patients manifested a dilated and one patient a hypertrophic cardiomyopathy. A characteristic laboratory abnormality was the intermittently increased excretion of 3-methylglutaconic acid. Three novel hemizygous mutations in the TAZ gene were found (c.584G>T; c.109+6T>C; c.86G>A). We conclude that Barth syndrome should be included in differential diagnosis of cardiomyopathy in childhood, especially in the co-occurrence of dilated cardiomyopathy and 3-methylglutaconic aciduria.

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37

Roston, Thomas M., Taylor Cunningham, Anna Lehman, Zachary W. Laksman, Andrew D. Krahn, and Shubhayan Sanatani. "Beyond the Electrocardiogram: Mutations in Cardiac Ion Channel Genes Underlie Nonarrhythmic Phenotypes." Clinical Medicine Insights: Cardiology 11 (January 1, 2017): 117954681769813. http://dx.doi.org/10.1177/1179546817698134.

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Анотація:

Cardiac ion channelopathies are an important cause of sudden death in the young and include long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, idiopathic ventricular fibrillation, and short QT syndrome. Genes that encode ion channels have been implicated in all of these conditions, leading to the widespread implementation of genetic testing for suspected channelopathies. Over the past half-century, researchers have also identified systemic pathologies that extend beyond the arrhythmic phenotype in patients with ion channel gene mutations, including deafness, epilepsy, cardiomyopathy, periodic paralysis, and congenital heart disease. A coexisting phenotype, such as cardiomyopathy, can influence evaluation and management. However, prior to recent molecular advances, our understanding and recognition of these overlapping phenotypes were poor. This review highlights the systemic and structural heart manifestations of the cardiac ion channelopathies, including their phenotypic spectrum and molecular basis.

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38

Zheng, Hua, Huajie Huang, Zhisong Ji, Qi Yang, Qiuxia Yu, Fan Shen, Cuixian Liu, and Fu Xiong. "A Double Heterozygous Mutation of TNNI3 Causes Hypertrophic Cardiomyopathy in a Han Chinese Family." Cardiology 133, no. 2 (October 28, 2015): 91–96. http://dx.doi.org/10.1159/000440877.

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Анотація:

Objectives: To investigate the variations in the TNNI3 gene in a Chinese Han family affected by hypertrophic cardiomyopathy (HCM) and the potential molecular mechanism linking these mutations with disease. Methods: Peripheral venous blood was acquired from family members, and TNNI3 mutations were identified by DNA sequencing. The pathophysiology of TNNI3 mutations was investigated using bioinformatics, subcellular localization determination and Western blotting. Results: Sanger sequencing revealed that the proband possessed 2 heterozygous mutations, c.235C>T and c.470C>T, located at exons 4 and 6 of the TNNI3 gene. The proband (II-2) and her brother (II-1), who had been previously diagnosed with HCM, harbored both mutations whereas their healthy parents harbored only 1. Alignment of the TNNI3 amino acid sequence indicated that the two Pro residues were highly conserved across species. Subcellular localization showed that both wild-type (WT) and mutant TNNI3 proteins were localized at the cell nucleus. Western blot analysis of expression in human embryonic kidney 293T cells showed that the intracellular levels of the mutant proteins were significantly decreased compared to WT TNNI3 (p < 0.01). Conclusions: Our findings showed that a double heterozygous mutation in the TNNI3 gene is involved in the pathogenesis of HCM via haploinsufficiency. These results will inspire further studies to investigating the link between the TNNI3 gene and HCM.

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39

Wang, Shuai, Qinglei Wang, Ning Zhai, Xin Wang, Zhihua Li, Lijun Gan, and Yinghua Cui. "Progression of Danon disease with medical imaging: two case reports." Journal of International Medical Research 49, no. 2 (February 2021): 030006052098667. http://dx.doi.org/10.1177/0300060520986676.

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Анотація:

Danon disease is a rare X-linked dominant genetic disorder caused by loss-of-function mutations in the lysosome-associated membrane protein 2 gene. Progression of Danon disease is unknown because of its rare incidence in a diverse ethnic population. We report longitudinal data from two patients who were diagnosed with Danon disease by a genetic test. The evaluation protocol included electrocardiographic monitoring, echocardiography, and magnetic resonance imaging. Progression of hypertrophic cardiomyopathy to dilated cardiomyopathy was observed in the first patient. He died from sudden cardiac arrest. The second patient is currently suffering from hypertrophic cardiomyopathy. Development of the hypertrophic phase progressing into the dilated phase in Danon disease may provide useful information for early identification and clinical decisions in patients with this disease.

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40

Geier, Christian, Andreas Perrot, Cemil Özcelik, Priska Binner, Damian Counsell, Katrin Hoffmann, Bernhard Pilz, et al. "Mutations in the Human Muscle LIM Protein Gene in Families With Hypertrophic Cardiomyopathy." Circulation 107, no. 10 (March 18, 2003): 1390–95. http://dx.doi.org/10.1161/01.cir.0000056522.82563.5f.

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41

Sequeira, Vasco, Paul J. M. Wijnker, Louise L. A. M. Nijenkamp, Diederik W. D. Kuster, Aref Najafi, E. Rosalie Witjas-Paalberends, Jessica A. Regan, et al. "Perturbed Length-Dependent Activation in Human Hypertrophic Cardiomyopathy With Missense Sarcomeric Gene Mutations." Circulation Research 112, no. 11 (May 24, 2013): 1491–505. http://dx.doi.org/10.1161/circresaha.111.300436.

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42

Joshi, V. A., A. E. Roberts, and R. S. Kucherlapati. "Noonan syndrome associated congenital hypertrophic cardiomyopathy and the role of sarcomere gene mutations." Progress in Pediatric Cardiology 24, no. 1 (November 2007): 75–76. http://dx.doi.org/10.1016/j.ppedcard.2007.08.009.

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43

Callis, Thomas E., Justin W. Leighton, Sandra J. Gunselman, and Jeana T. DaRe. "FREQUENCY OF METABOLIC GENE MUTATIONS IN PATIENTS REFERRED FOR HYPERTROPHIC CARDIOMYOPATHY GENETIC TESTING." Journal of the American College of Cardiology 63, no. 12 (April 2014): A821. http://dx.doi.org/10.1016/s0735-1097(14)60821-4.

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44

Yamauchi-Takihara, K., C. Nakajima-Taniguchi, H. Matsui, Y. Fujio, K. Kunisada, S. Nagata, and T. Kishimoto. "Clinical implications of hypertrophic cardiomyopathy associated with mutations in the alpha-tropomyosin gene." Heart 76, no. 1 (July 1, 1996): 63–65. http://dx.doi.org/10.1136/hrt.76.1.63.

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45

Seidman, Christine, Hugh Watkins, Ludwig Thierfelder, Ted Love, Dar-San Hwang, William McKenna, and Jonathan Seidman. "Analyses of cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy." Journal of Molecular and Cellular Cardiology 24 (May 1992): 19. http://dx.doi.org/10.1016/0022-2828(92)90088-h.

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46

Coppini, Raffaele, Carolyn Y. Ho, Euan Ashley, Sharlene Day, Cecilia Ferrantini, Francesca Girolami, Benedetta Tomberli, et al. "Clinical Phenotype and Outcome of Hypertrophic Cardiomyopathy Associated With Thin-Filament Gene Mutations." Journal of the American College of Cardiology 64, no. 24 (December 2014): 2589–600. http://dx.doi.org/10.1016/j.jacc.2014.09.059.

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47

Olson, Timothy M., Thao P. Doan, Nina Y. Kishimoto, Frank G. Whitby, Michael J. Ackerman, and Lameh Fananapazir. "Inherited and de novo Mutations in the Cardiac Actin Gene Cause Hypertrophic Cardiomyopathy." Journal of Molecular and Cellular Cardiology 32, no. 9 (September 2000): 1687–94. http://dx.doi.org/10.1006/jmcc.2000.1204.

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48

Комиссарова, С. М., Н. М. Ринейская, Н. Н. Чакова, С. С. Ниязова, Т. А. Севрук, and И. К. Гайдель. "Noonan syndrome with Phenotype of hypertrophic Cardiomyopathy: Clinical Observation." Кардиология в Беларуси, no. 1 (April 7, 2020): 125–38. http://dx.doi.org/10.34883/pi.2020.12.1.011.

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Синдром Нунан клинически и генетически гетерогенное заболевание, вызываемое мутациями в генах, кодирующих белки в сигнальном пути RAS-MAPK. В настоящее время имеются свидетельства о 10 генетических формах синдрома. В настоящей работе представлены два случая синдрома Нунан у взрослых пациентов: у 21-летней пациентки с фенотипом необструктивной гипертрофической кардиомиопатии (ГКМП) и 39-летнего пациента со среднежелудочковой ГКМП, сопровождающейся внутрижелудочковой обструкцией. При генетическом обследовании были выявлены мутации p.Pro261Ser (rs121434594) и p.Asn262Ile (rs730881010) в 7-м экзоне гена RAF1, указывающие на наличие у пациентов с фенотипом ГКМП синдрома Нунан. Обсуждены вопросы диагностики и стратегии лечения заболевания. Noonan syndrome is clinically and genetically heterogeneous disease caused by mutations in the genes that encode proteins in the RAS-MAPK signaling pathway. This paper presents two cases of Noonan syndrome in adult patients: a 21-year-old patient with the phenotype of non-obstructive hypertrophic cardiomyopathy (HCM) and a 39-year-old patient with mid-ventricular HCM accompanied by intraventricular obstruction. Genetic examination revealed mutations p.Pro261Ser (rs121434594) and p.Asn262Ile (rs730881010) in the 7th exon of the RAF1 gene, indicating the presence of Noonan syndrome in patients with the HCM phenotype. The issues of diagnostics and treatment strategy of the disease were discussed.

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de Feria, Alejandro E., Andrew E. Kott, and Jason R. Becker. "Sarcomere mutation negative hypertrophic cardiomyopathy is associated with ageing and obesity." Open Heart 8, no. 1 (February 2021): e001560. http://dx.doi.org/10.1136/openhrt-2020-001560.

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Анотація:

BackgroundDespite advances in our understanding of the genetic causes of hypertrophic cardiomyopathy (HCM), a large portion of this patient population do not carry sarcomere gene mutations when screened. It remains largely unknown why patients without sarcomere mutations develop asymmetric myocardial hypertrophy.MethodsWe performed a retrospective analysis of probands with HCM who underwent genetic testing to determine if clinical phenotypes were different depending on sarcomere mutation status. A medical history, three generation family history and clinical phenotyping were performed on 127 probands with HCM. Genetic screening was performed using clinically available HCM genetic testing panels.ResultsWe found that probands with HCM with pathogenic sarcomere mutations were over three times more likely to have a family history of HCM (66% vs 17%, p<0.0001) and were diagnosed with HCM at a much younger age (32 vs 51 years old, p<0.0001). In contrast, probands with HCM without sarcomere mutations were significantly more obese (body surface area p=0.003, body mass index p=0.04 adjusted for age) and were more likely to present with left ventricular outflow tract obstruction (p=0.0483).ConclusionPatients with sarcomere mutation negative HCM present at an older age and are more obese compared with patients with sarcomere mutation positive HCM. The role of ageing and obesity in asymmetric myocardial hypertrophy warrants further investigation.

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50

Peng, Y., J. Xu, Y. Wang, J. Zhao, L. Zhang, Z. Chen, Y. Jiang, S. Banerjee, Z. Zhang, and M. Bai. "A novel Loss-of-function Mutation in MYBPC3 Causes familial hypertrophic cardiomyopathy with extreme intrafamilial phenotypic heterogeneity." Balkan Journal of Medical Genetics 25, no. 1 (June 1, 2022): 71–78. http://dx.doi.org/10.2478/bjmg-2022-0002.

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Анотація:

Abstract Cardiomyopathies are a heterogeneous group of diseases predominantly affecting the heart muscle and often lead to progressive heart failure-related disability or cardiovascular death. Hypertrophic cardiomyopathy (HCM) is a cardiac muscle disorder mostly caused by the mutations in genes encoding cardiac sarcomere. Germ-line mutations in MYBPC3 causes hypertrophic cardiomyopathy (HCM). However, most of the HCM associated MYBPC3 mutations were truncating mutations. Extreme phenotypic heterogeneity was observed among HCM patients with MYBPC3 mutations. In this study, we investigated a Chinese man who presented with HCM. Whole exome sequencing identified a novel heterozygous deletion (c.3781_3785delGAGGC) in exon 33 of the MYBPC3 in the proband. This heterozygous variant causes frameshift (p.Glu1261Thrfs*3), which predicted to form a truncated MYBPC3 protein. The proband’s father also carries this variant in a heterozygous state while the proband’s mother did not harbor this variant. Here, we report on a novel deletion in the MYBPC3 gene associated with HCM. We also highlight the importance of whole exome sequencing for molecular diagnosis for the patients with familial HCM.

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