Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant.

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

Afiliação

Inagaki N; Department of Cardiology, Tokyo Medical University, Tokyo, Japan. abenatsu@wb3.so-net.ne.jp.
Okano T; Department of Clinical Genetics Center, Tokyo Medical University, Tokyo, Japan. abenatsu@wb3.so-net.ne.jp.
Kobayashi M; Department of Cardiology, Tokyo Medical University, Tokyo, Japan.
Fujii M; Department of Cardiology, Tokyo Medical University, Tokyo, Japan.
Yazaki Y; Department of Cardiology, Tokyo Medical University, Tokyo, Japan.
Takei Y; Department of Cardiology, Tokyo Medical University, Tokyo, Japan.
Kosuge H; Department of Cardiology, Tokyo Medical University, Tokyo, Japan.
Suzuki S; Department of Cardiology, Tokyo Medical University, Tokyo, Japan.
Hayashi T; Department of Pediatrics and Adolescent Medicine, Tokyo Medical University, Tokyo, Japan.
Kuroda M; Department of Physiology, Tokai University School of Medicine, Isehara, Japan.
Satomi K; Department of Molecular Pathology, Tokyo Medical University, Tokyo, Japan.

Hum Genome Var ; 11(1): 14, 2024 Mar 29.

Article em En | MEDLINE | ID: mdl-38548731

ABSTRACT

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_000363.5c.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.

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article