SCN5A overlap syndromes: An open-minded approach

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

doi:10.1016/j.hrthm.2022.03.1223

SCN5A overlap syndromes: An open-minded approach

Heart Rhythm. 2022 Aug;19(8):1363-1368. doi: 10.1016/j.hrthm.2022.03.1223. Epub 2022 Mar 26.

Authors

Alessandra P Porretta¹, Vincent Probst², Zahurul A Bhuiyan³, Emeline Davoine³, Antoine Delinière⁴, Patrizio Pascale⁵, Juerg Schlaepfer⁵, Andrea Superti-Furga⁶, Etienne Pruvot⁵

Affiliations

¹ Service of Cardiology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland; Department of Clinical-Surgical Diagnostic and Pediatric Sciences, University of Pavia, Pavia, Italy. Electronic address: Alessandra-pia.porretta@chuv.ch.
² l'Institut du thorax, Service de Cardiologie du CHU de Nantes, Hopital Nord, Nantes Cedex, France.
³ Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland.
⁴ Service of Rhythmology, Hôpital Cardiologique Louis Pradel, Hospices Civils de Lyon, Lyon, France.
⁵ Service of Cardiology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
⁶ Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland; University of Lausanne, Lausanne, Switzerland.

PMID: 35351625
DOI: 10.1016/j.hrthm.2022.03.1223

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.

Keywords: Cardiogenetics; Channelopathies; Polygenic inheritance; SCN5A gene; SCN5A overlap syndrome.

Publication types

Review

MeSH terms

Arrhythmias, Cardiac / genetics
Brugada Syndrome* / genetics
Humans
Mutation
NAV1.5 Voltage-Gated Sodium Channel* / genetics
Phenotype
Syndrome

Substances

NAV1.5 Voltage-Gated Sodium Channel
SCN5A protein, human