由新型 TNNI3 变异引起的小儿肥厚型心肌病。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2024-03-29 DOI:10.1038/s41439-024-00272-1

Natsuko Inagaki, Tomoya Okano, Masatake Kobayashi, Masatsune Fujii, Yoshinao Yazaki, Yasuyoshi Takei, Hisanori Kosuge, Shinji Suzuki, Takeharu Hayashi, Masahiko Kuroda, Kazuhiro Satomi

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引用次数: 0

摘要

TNNI3 是导致肥厚型心肌病 (HCM) 的基因。一名被诊断为非阻塞性 HCM 的 14 岁女孩因心室颤动导致心肺骤停。基因检测发现了 TNNI3 中的一个新发杂合错义变异 NM_000363.5:c.583A>T（p.Ile195Phe），该变异被确定为致病变异。患者表现出进行性心肌纤维化、左心室重塑和危及生命的心律失常。家族遗传检测有助于对小儿 HCM 患者进行风险分层。

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Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant.

TNNI3 is a gene that causes hypertrophic cardiomyopathy (HCM). A 14-year-old girl who was diagnosed with nonobstructive HCM presented with cardiopulmonary arrest due to ventricular fibrillation. Genetic testing revealed a novel de novo heterozygous missense variant in TNNI3, NM_000363.5:c.583A>T (p.Ile195Phe), which was determined to be the pathogenic variant. The patient exhibited progressive myocardial fibrosis, left ventricular remodeling, and life-threatening arrhythmias. Genetic testing within families is useful for risk stratification in pediatric HCM patients.

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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks