Abstract:Using a candidate-gene approach, we detected a variant of SCN5A, encoding the cardiac Na þ channel Nav1.5, by screening a family with cardiac arrhythmia resulting in frequent premature ventricular contractions (PVCs) and nonsustained ventricular tachycardia. Arrhythmia mechanism involved ectopic foci originating from the His-Purkinje system. The same mutation, leading to the R222Q substitution, was present in two additional unrelated families with the same associated cardiac phenotype. Exercise or hydroquinidi… Show more
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