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Article

Multiple arrhythmic and cardiomyopathic phenotypes associated with an SCN5A A735E mutation.

Journal of electrocardiology - 1 Jan 2000

Sasaki Takashi, Ikeda Kentaro, Nakajima Tadashi, Kawabata-Iwakawa Reika, Iizuka Takashi, Dharmawan Tommy, Tamura Shuntaro, Niwamae Nogiku, Tange Shoichi, Nishiyama Masahiko, Kaneko Yoshiaki, Kurabayashi Masahiko

Abstract excerpt

BACKGROUND: SCN5A mutations are associated with multiple arrhythmic and cardiomyopathic phenotypes including Brugada syndrome (BrS), sinus node dysfunction (SND), atrioventricular block, supraventricular tachyarrhythmias (SVTs), long QT syndrome (LQTS), dilated cardiomyopathy and left ventricular noncompaction. Several single SCN5A mutations have been associated with overlap of some of these phenotypes, but never...

Topics

Adult
Brugada Syndrome
Cardiomyopathies
Child, Preschool
Electrocardiography
Female
Humans
Male
Mutation
NAV1.5 Voltage-Gated Sodium Channel

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Young Adult

Source

Identifiers

PMID: 33610078
DOI: 10.1016/j.jelectrocard.2021.01.019

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-33610078-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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