SCN5A overlap syndromes: An open-minded approach

被引：5

作者：

Porretta, Alessandra P. ^{[1
,2
]}

Probst, Vincent ^{[3
]}

Bhuiyan, Zahurul A. ^{[4
]}

Davoine, Emeline ^{[4
]}

Deliniere, Antoine ^{[5
]}

Pascale, Patrizio ^{[1
]}

Schlaepfer, Juerg ^{[1
]}

Superti-Furga, Andrea ^{[4
,6
]}

Pruvot, Etienne ^{[1
]}

机构：

[1] CHU Vaudois, Serv Cardiol, Lausanne, Switzerland

[2] Univ Pavia, Dept Clin Surg Diagnost & Pediat Sci, Pavia, Italy

[3] CHU Nantes, Hop Nord, Serv Cardiol, Inst Thorax, Nantes, France

[4] Lausanne Univ Hosp, Div Genet Med, Lausanne, Switzerland

[5] Hosp Civils Lyon, Hop Cardiol Louis Pradel, Serv Rhythmol, Lyon, France

[6] Univ Lausanne, Lausanne, Switzerland

来源：

HEART RHYTHM | 2022年 / 19卷 / 08期

关键词：

Cardiogenetics; Channelopathies; Polygenic inheritance; SCN5A gene; SCN5A overlap syndrome; SICK SINUS SYNDROME; BRUGADA-SYNDROME; CONDUCTION DISEASE; HIGH-RISK; LONG-QT; MUTATION; MANIFESTATIONS; PREDOMINANCE; TESTOSTERONE; TRAFFICKING;

D O I：

10.1016/j.hrthm.2022.03.1223

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：1363 / 1368

页数：6

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