Sodium Channel Mutations and Susceptibility to Heart Failure and Atrial Fibrillation
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Open Access
- 26 January 2005
- journal article
- research article
- Published by American Medical Association (AMA) in JAMA
- Vol. 293 (4) , 447-454
- https://doi.org/10.1001/jama.293.4.447
Abstract
Dilated cardiomyopathy (DCM), an idiopathic form of heart failure and the primary indication for cardiac transplantation,1 has an incidence of 6.0 per 100 000 person-years and prevalence of 36.5 per 100 000 population.2 Dilated cardiomyopathy is familial in more than 20% of cases,3 implicating genetic defects in single proteins in the disease pathogenesis. Mutations that impair excitation-contraction coupling, which translates electrical excitation of cell membranes into mechanical force production via intracellular calcium, have been demonstrated in DCM and in other heritable cardiac disorders.Keywords
This publication has 36 references indexed in Scilit:
- Dilated Cardiomyopathy and Heart Failure Caused by a Mutation in PhospholambanScience, 2003
- KCNQ1 Gain-of-Function Mutation in Familial Atrial FibrillationScience, 2003
- Variant of SCN5A Sodium Channel Implicated in Risk of Cardiac ArrhythmiaScience, 2002
- The failing heartNature, 2002
- Many Roads Lead to a Broken Heart: The Genetics of Dilated CardiomyopathyAmerican Journal of Human Genetics, 2001
- Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System DiseaseNew England Journal of Medicine, 1999
- Mapping a cardiomyopathy locus to chromosome 3p22-p25.Journal of Clinical Investigation, 1996
- Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmiasNature Genetics, 1996
- SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndromeCell, 1995
- Prevalence and etiology of idiopathic dilated cardiomyopathy (summary of a National Heart, Lung, and Blood Institute Workshop)The American Journal of Cardiology, 1992