Article
Homozygous SCN5A mutation in long-QT syndrome with functional two-to-one atrioventricular block.
Circulation research - 20 Jul 2001
Lupoglazoff J M, Cheav T, Baroudi G, Berthet M, Denjoy I, Cauchemez B, Extramiana F, Chahine M, Guicheney P
Abstract excerpt
Heterozygous mutations in genes encoding cardiac ionic channel subunits KCNQ1, HERG, SCN5A, KCNE1, and KCNE2 are causally involved in the dominant form of long-QT syndrome (LQTS) while homozygous mutations in KCNQ1 and KCNE1 cause LQTS with or without congenital deafness. In addition, two homozygous HERG mutations have been associated with severe LQTS with functional atrioventricular conduction anomalies in young...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.