Is MYBPC3 linked to bicuspid aortic valve

Published on Feb 1, 2021in Translational pediatrics2.286
· DOI :10.21037/TP-20-477
Talha Niaz8
Estimated H-index: 8
Donald J. Hagler88
Estimated H-index: 88
#1Jeanne L. Theis (Mayo Clinic)H-Index: 11
#2Jessie J. Hu (Mayo Clinic)H-Index: 1
Last. Timothy M. Olson (Mayo Clinic)H-Index: 31
view all 8 authors...
BACKGROUND Hypoplastic left heart syndrome (HLHS) with risk of poor outcome has been linked to MYH6 variants, implicating overlap in genetic etiologies of structural and myopathic heart disease. METHODS Whole genome sequencing was performed in 197 probands with HLHS, 43 family members, and 813 controls. Data were filtered for rare, segregating variants in 3 index families comprised of an HLHS proband and relative(s) with cardiomyopathy. Whole genome sequencing data from cases and controls were c...
1 CitationsSource
#1Xiaopei ZhaoH-Index: 1
#2Cuilan HouH-Index: 1
Last. Meng XuH-Index: 1
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Background Bicuspid aortic valve (BAV) is a common congenital heart defect (0.5-2.0% in the adult), potentially an onset factor of aortic stenosis (AS). Increasing evidence demonstrates that genetic risk factors play a key role in the pathogenesis of BAV, but the genetic basis underlying this cardiac malformation remains poorly understood. Methods Whole exome sequencing (WES) was utilized to uncover genetic variants associated with BAV. Pathogenicity score and mode of inheritance through bioinfo...
1 CitationsSource
#1Katia Bravo-Jaimes (University of Texas Health Science Center at Houston)H-Index: 3
#2Siddharth K. Prakash (University of Texas Health Science Center at Houston)H-Index: 27
Abstract Bicuspid aortic valve (BAV) is the most common congenital heart defect, found in up to 2% of the population and associated with a 30% lifetime risk of complications. BAV is inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity due to a complex genetic architecture that involves many interacting genes. In this review, we highlight the current state of knowledge about BAV genetics, principles and methods for BAV gene discovery, clinical applications...
3 CitationsSource
#1Ali J. Marian (Brigham and Women's Hospital)H-Index: 64
#2Eugene Braunwald (Brigham and Women's Hospital)H-Index: 266
Last. Eugene Braunwald (The Texas Heart Institute)H-Index: 1
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Hypertrophic cardiomyopathy (HCM) is a genetic disorder that is characterized by left ventricular hypertrophy unexplained by secondary causes and a nondilated left ventricle with preserved or increased ejection fraction. It is commonly asymmetrical with the most severe hypertrophy involving the basal interventricular septum. Left ventricular outflow tract obstruction is present at rest in about one third of the patients and can be provoked in another third. The histological features of HCM inclu...
262 CitationsSource
#1Jan Haas (Heidelberg University)H-Index: 31
#2Karen S. Frese (Heidelberg University)H-Index: 17
Last. Benjamin Meder (Heidelberg University)H-Index: 50
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Aim Numerous genes are known to cause dilated cardiomyopathy (DCM). However, until now technological limitations have hindered elucidation of the contribution of all clinically relevant disease genes to DCM phenotypes in larger cohorts. We now utilized next-generation sequencing to overcome these limitations and screened all DCM disease genes in a large cohort. Methods and results In this multi-centre, multi-national study, we have enrolled 639 patients with sporadic or familial DCM. To all samp...
298 CitationsSource
#1Siddharth K. Prakash (University of Texas Health Science Center at Houston)H-Index: 27
#2Yohan Bossé (Laval University)H-Index: 60
Last. Dianna M. Milewicz (University of Texas Health Science Center at Houston)H-Index: 84
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Bicuspid aortic valve (BAV) is the most common adult congenital heart defect and is found in 0.5% to 2.0% of the general population. The term “BAV” refers to a heterogeneous group of disorders characterized by diverse aortic valve malformations with associated aortopathy, congenital heart defects, and genetic syndromes. Even after decades of investigation, the genetic determinants of BAV and its complications remain largely undefined. Just as BAV phenotypes are highly variable, the genetic etiol...
114 CitationsSource
#1Susanne Probst (MDC: Max Delbrück Center for Molecular Medicine)H-Index: 5
#2Erwin OechslinH-Index: 58
Last. Sabine KlaassenH-Index: 16
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Background— Left ventricular noncompaction of the myocardium (LVNC) has been recognized as a cardiomyopathy with a genetic etiology. Mutations in genes encoding sarcomere proteins were shown to be associated with LVNC. We evaluated the potential clinical impact of genetic analysis of sarcomere genes in patients with LVNC. Methods and Results— We identified 5 mutations in cardiac myosin-binding protein C ( MYBPC3 ) and 2 mutations in α-tropomyosin ( TPM1 ) in a cohort of unrelated adult probands ...
120 CitationsSource
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