Journal of Pediatric Cardiology and Cardiac Surgery

Online ISSN: 2433-1783 Print ISSN: 2433-2720
Japanese Society of Pediatric Cardiology and Cardiac Surgery
Japanese Society of Pediatric Cardiology and Cardiac Surgery Academy Center, 358-5 Yamabuki-cho, Shinju-ku, Tokyo 162-0801, Japan
Journal of Pediatric Cardiology and Cardiac Surgery 5(1): 12-15 (2021)

Case ReportCase Report

Sudden Death in a 1-Year-Old Japanese Girl: A Phe110Ile Missense Mutation in the Cardiac Troponin T2 Gene Possibly Associated with Low Activity of the Cardiac Mitochondrial Respiratory Chain Complex I

1Department of Pediatrics, Daido Hospital ◇ Aichi, Japan

2Department of Pathology, Daido Hospital ◇ Aichi, Japan

受付日:2019年4月12日Received: April 12, 2019
受理日:2020年7月29日Accepted: July 29, 2020
発行日:2021年3月1日Published: March 1, 2021

A 1-year-old Japanese girl with an eight-hour history of diaphoresis and emesis, died on arrival at our hospital. Investigations could not determine the cause of death. Imaging findings were consistent with postmortem changes. There were no pathological findings of virus-induced changes, fulminant myocarditis, myocyte disarray, or myocardial hypertrophy. The activity of the cardiac mitochondrial respiratory transport chain complex (MRTCC) I was reduced. Analysis of target resequencing by use of a genetic testing panel for mitochondrial diseases showed the patient had a Phe110Ile missense mutation (c.358T>A; p.F110I) in the cardiac Troponin T2 gene (TNNT2 mutation). TNNT2 mutation is one of the causes of familial hypertrophic cardiomyopathy. Our case is the first report of a patient with the TNNT2 mutation and low activity of cardiac MRTCC I.

Key words: Troponin T2 gene; hypertrophic cardiomyopathy; mitochondrial respiratory chain complex I; sudden death

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