SCN5A overlap syndromes: An open-minded approach.
Details
Serval ID
serval:BIB_E6B016D96A8A
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
SCN5A overlap syndromes: An open-minded approach.
Journal
Heart rhythm
ISSN
1556-3871 (Electronic)
ISSN-L
1547-5271
Publication state
Published
Issued date
08/2022
Peer-reviewed
Oui
Volume
19
Number
8
Pages
1363-1368
Language
english
Notes
Publication types: Journal Article ; Review
Publication Status: ppublish
Publication Status: ppublish
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
Arrhythmias, Cardiac/genetics, Brugada Syndrome/genetics, Humans, Mutation, NAV1.5 Voltage-Gated Sodium Channel/genetics, Phenotype, Syndrome, Cardiogenetics, Channelopathies, Polygenic inheritance, SCN5A gene, SCN5A overlap syndrome
Pubmed
Web of science
Create date
09/04/2022 19:16
Last modification date
14/03/2023 7:49
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