Human Genome Variation (Mar 2024)

Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant

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

DOI
https://doi.org/10.1038/s41439-024-00272-1
Journal volume & issue
Vol. 11, no. 1
pp. 1 – 4

Abstract

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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_000363.5: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.