Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant

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2024年3月29日

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

摘要

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.