Inagaki Natsuko, Okano Tomoya, Kobayashi Masatake, Fujii Masatsune, Yazaki Yoshinao, Takei Yasuyoshi, Kosuge Hisanori, Suzuki Shinji, Hayashi Takeharu, Kuroda Masahiko, Satomi Kazuhiro
Department of Cardiology, Tokyo Medical University, Tokyo, Japan.
Department of Clinical Genetics Center, Tokyo Medical University, Tokyo, Japan.
Hum Genome Var. 2024 Mar 29;11(1):14. doi: 10.1038/s41439-024-00272-1.
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.
肌钙蛋白I3（TNNI3）基因可引发肥厚型心肌病（HCM）。一名14岁被诊断为非梗阻性HCM的女孩因心室颤动出现心肺骤停。基因检测发现TNNI3基因（NM_000363.5）存在一种新的杂合错义新生变异，即c.583A>T（p.Ile195Phe），该变异被确定为致病变异。该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。对家族成员进行基因检测有助于小儿HCM患者的风险分层。
