p.Y1449C SCN5AMutation Associated with Overlap Disorder Comprising Conduction Disease, Brugada Syndrome, and Atrial Flutter

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Abstract

Mutations in theSCN5Agene, which encodes the cardiac sodium channel, have been associated with cardiac arrhythmia syndromes and conduction disease. SpecificSCN5Amutations had initially been considered to cause specific phenotypes. More recently, someSCN5Amutations have been associated with overlap syndromes, characterized by phenotypic heterogeneity within and between mutation carriers. Here we report and associate the presence of thep.Y1449C SCN5Amutation in a single family with a spectrum of cardiac phenotypes including conduction disease, Brugada syndrome and atrial arrhythmias, for the first time to our knowledge.

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