Title: SCN5A overlap syndromes: An open-minded approach.

Authors: Alessandra P Porretta, Vincent Probst, Zahurul A Bhuiyan, Emeline Davoine, Antoine Delinière, Patrizio Pascale, Juerg Schlaepfer, Andrea Superti-Furga, Etienne Pruvot

Journal, date & volume: Heart Rhythm, 2022Aug, 19, 1363-1368

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/35351625

Abstract
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.