Clinical genetics
A Novel SCN5A Missense Variant Associated With Familial Non-Dilated Left Ventricular Cardiomyopathy.
Vincenzo Castiglione, Annalisa Logiacco, Andrea Barison, Simona Vittorini, Nicoletta Botto, Michele Emdin, Giancarlo Todiere
Published: 202510.1111/cge.70092
Abstract
We report a novel SCN5A missense variant (c.655C>T (p.Arg219Cys)) in a family with non-dilated left ventricular cardiomyopathy, broadening the spectrum of SCN5A-related structural cardiac diseases. The proband, a 35-year-old man, presented with embol…
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