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[Familial cardiomyopathy caused by mutation of SCN5A gene].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Dec 2021

Dai G Y, Qin Y M, Yang S W

Abstract excerpt

1岁3月龄患儿因“咳嗽6 d，精神萎靡伴面色发绀2 h”就诊，诊断为左心室致密化不全、支气管肺炎、心力衰竭。该患儿存在心肌病家族史，有一胞姐3岁时死于扩张型心肌病，母亲有左心室扩大及房间隔缺损，对患儿行全外显子组基因测序发现其存在SCN5A基因杂合错义突变：c.3076C>T（p.R1023C），该突变遗传自母亲，考虑该突变可导致家族性心肌病。该突变首次在家族性心肌病中被报道。.

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Identifiers

PMID: 34856670
DOI: 10.3760/cma.j.cn112140-20210521-00439

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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