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Article

R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy.

Journal of the American College of Cardiology - 16 Oct 2012

Mann Stefan A, Castro Maria L, Ohanian Monique, Guo Guanglan, Zodgekar Poonam, Sheu Angela, Stockhammer Kathryn, Thompson Tina, Playford David, Subbiah Rajesh, Kuchar Dennis, Aggarwal Anu, Vandenberg Jamie I, Fatkin Diane

Abstract excerpt

OBJECTIVES: The goal of this study was to characterize a variant in the SCN5A gene that encodes the alpha-subunit of the cardiac sodium channel, Nav1.5, which was identified in 1 large kindred with dilated cardiomyopathy (DCM) and multiple arrhythmias, including premature ventricular complexes (PVCs). BACKGROUND: Treatment guidelines for familial DCM are based on conventional heart failure therapies, and no...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22999724
DOI: 10.1016/j.jacc.2012.05.050

Genes

LMNA

Provenance

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