Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant.
Natsuko InagakiTomoya OkanoMasatake KobayashiMasatsune FujiiYoshinao YazakiYasuyoshi TakeiHisanori KosugeShinji SuzukiTakeharu HayashiMasahiko KurodaKazuhiro SatomiPublished in: Human genome variation (2024)
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.
Keyphrases
- hypertrophic cardiomyopathy
- left ventricular
- cardiac resynchronization therapy
- acute myocardial infarction
- heart failure
- end stage renal disease
- mitral valve
- left atrial
- aortic stenosis
- newly diagnosed
- ejection fraction
- chronic kidney disease
- multiple sclerosis
- early onset
- photodynamic therapy
- prognostic factors
- single cell
- case report
- genome wide
- cell cycle
- patient reported outcomes
- dna methylation
- aortic valve
- transcatheter aortic valve replacement
- childhood cancer