Article
Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system.
Circulation research - 7 Feb 2003
Bezzina Connie R, Rook Martin B, Groenewegen W Antoinette, Herfst Lucas J, van der Wal Allard C, Lam Jan, Jongsma Habo J, Wilde Arthur A M, Mannens Marcel M A M
Abstract excerpt
Cardiac conduction defects associate with mutations in SCN5A, the gene encoding the cardiac Na+ channel. In the present study, we characterized a family in which the proband was born in severe distress with irregular wide complex tachycardia. His older sister died at 1 year of age from severe conduction disease with similarly widened QRS-complexes. Mutational analysis of SCN5A in the proband demonstrated compound...
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