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
- heart failure
- end stage renal disease
- acute myocardial infarction
- cardiac resynchronization therapy
- left atrial
- aortic stenosis
- mitral valve
- chronic kidney disease
- ejection fraction
- newly diagnosed
- prognostic factors
- multiple sclerosis
- peritoneal dialysis
- cell cycle
- gene expression
- intellectual disability
- acute coronary syndrome
- photodynamic therapy
- patient reported outcomes
- copy number
- dna methylation
- congenital heart disease
- aortic valve