SCN5A overlap syndromes: An open-minded approach.

SCN5A overlap syndromes are clinical entities that express a phenotype combining aspects of different canonical SCN5A-related arrhythmia syndromes or a variable arrhythmic phenotype among individuals carrying the same SCN5A mutation. Here we review the literature addressing SCN5A overlap syndromes as well as the principal mechanisms currently proposed. Among others, a multifactorial determination encompassing an interaction between SCN5A variant(s), other genetic polymorphisms, and possibly environmental factors seems the most plausible hypothesis. Copyright © 2022 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.

Citation

Alessandra P Porretta, Vincent Probst, Zahurul A Bhuiyan, Emeline Davoine, Antoine Delinière, Patrizio Pascale, Juerg Schlaepfer, Andrea Superti-Furga, Etienne Pruvot. SCN5A overlap syndromes: An open-minded approach. Heart rhythm. 2022 Aug;19(8):1363-1368

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PMID: 35351625

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