Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association

ME Pierpont, M Brueckner, WK Chung, V Garg… - Circulation, 2018 - Am Heart Assoc
This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …

Cardiac myosin contraction and mechanotransduction in health and disease

SK Barrick, MJ Greenberg - Journal of Biological Chemistry, 2021 - ASBMB
Cardiac myosin is the molecular motor that powers heart contraction by converting chemical
energy from ATP hydrolysis into mechanical force. The power output of the heart is tightly …

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing

LR Lopes, A Zekavati, P Syrris, M Hubank… - Journal of medical …, 2013 - jmg.bmj.com
Background Clinical interpretation of the large number of rare variants identified by high
throughput sequencing (HTS) technologies is challenging. The aim of this study was to …

Of mice and men: molecular genetics of congenital heart disease

TA Andersen, KLL Troelsen, LA Larsen - Cellular and molecular life …, 2014 - Springer
Congenital heart disease (CHD) affects nearly 1% of the population. It is a complex disease,
which may be caused by multiple genetic and environmental factors. Studies in human …

Heavy and light roles: myosin in the morphogenesis of the heart

J England, S Loughna - Cellular and Molecular Life Sciences, 2013 - Springer
Myosin is an essential component of cardiac muscle, from the onset of cardiogenesis
through to the adult heart. Although traditionally known for its role in energy transduction and …

[HTML][HTML] Genetics of congenital heart disease: a narrative review of recent advances and clinical implications

J Yasuhara, V Garg - Translational Pediatrics, 2021 - ncbi.nlm.nih.gov
Congenital heart disease (CHD) is the most common human birth defect and remains a
leading cause of mortality in childhood. Although advances in clinical management have …

PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity

J Van Setten, JA Brody, Y Jamshidi… - Nature …, 2018 - nature.com
Electrocardiographic PR interval measures atrio-ventricular depolarization and conduction,
and abnormal PR interval is a risk factor for atrial fibrillation and heart block. Our genome …

[HTML][HTML] Genetic and genomics in congenital heart disease: a clinical review

A Saliba, ACV Figueiredo, JE Baroneza, JY Afiune… - Jornal de …, 2020 - SciELO Brasil
Objective: Discuss evidence referring to the genetic role in congenital heart diseases,
whether chromosomic alterations or monogenic diseases. Data source: LILACS, PubMed …

A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta

T Bjornsson, RB Thorolfsdottir… - European heart …, 2018 - academic.oup.com
Aims Coarctation of the aorta (CoA) accounts for 4–8% of congenital heart defects (CHDs)
and confers substantial morbidity despite treatment. It is increasingly recognized as a highly …

Genetic basis of human congenital heart disease

SN Nees, WK Chung - Cold Spring Harbor perspectives …, 2020 - cshperspectives.cshlp.org
Congenital heart disease (CHD) is the most common major congenital anomaly with an
incidence of∼ 1% of live births and is a significant cause of birth defect–related mortality …