Hypertrophic Cardiomyopathy Due to the Mitochondrial DNA Mutation m.3303C>T Diagnosed in an Adult Male

Tomas Palecek; Marketa Tesarova; Petr Kuchynka; Vladimir Dytrych; Milan Elleder; Helena Hulkova; Hana Hansikova; Tomas Honzik; Jiří Zeman; Ales Linhart

doi:10.1536/ihj.53.383

Case Reports

Hypertrophic Cardiomyopathy Due to the Mitochondrial DNA Mutation m.3303C>T Diagnosed in an Adult Male

Tomas Palecek, Marketa Tesarova, Petr Kuchynka, Vladimir Dytrych, Milan Elleder, Helena Hulkova, Hana Hansikova, Tomas Honzik, Jiří Zeman, Ales Linhart

Author information

Tomas Palecek
2^nd Department of Medicine, Department of Cardiovascular Medicine, General University Hospital in Prague, First Faculty of Medicine, Charles University in Prague
International Clinical Research Center, St. Anne’s University Hospital Brno
Marketa Tesarova
Department of Pediatrics and Adolescent Medicine, General University Hospital in Prague, First Faculty of Medicine, Charles University in Prague
Petr Kuchynka
2^nd Department of Medicine, Department of Cardiovascular Medicine, General University Hospital in Prague, First Faculty of Medicine, Charles University in Prague
Vladimir Dytrych
2^nd Department of Medicine, Department of Cardiovascular Medicine, General University Hospital in Prague, First Faculty of Medicine, Charles University in Prague
Milan Elleder
Institute of Inherited Metabolic Disorders, General University Hospital in Prague, First Faculty of Medicine, Charles University in Prague
Helena Hulkova
Institute of Inherited Metabolic Disorders, General University Hospital in Prague, First Faculty of Medicine, Charles University in Prague
Hana Hansikova
Department of Pediatrics and Adolescent Medicine, General University Hospital in Prague, First Faculty of Medicine, Charles University in Prague
Tomas Honzik
Department of Pediatrics and Adolescent Medicine, General University Hospital in Prague, First Faculty of Medicine, Charles University in Prague
Jiří Zeman
Department of Pediatrics and Adolescent Medicine, General University Hospital in Prague, First Faculty of Medicine, Charles University in Prague
Ales Linhart
2^nd Department of Medicine, Department of Cardiovascular Medicine, General University Hospital in Prague, First Faculty of Medicine, Charles University in Prague

Keywords: Mitochondrial disease, Short PR interval

JOURNAL FREE ACCESS

2012 Volume 53 Issue 6 Pages 383-387

DOI https://doi.org/10.1536/ihj.53.383

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Abstract

Mitochondrial disorders comprise a heterogeneous group of diseases with multisystem involvement including myocardium. Most cases of mitochondrial cardiomyopathy are associated with myopathy and encephalopathy and are generally present in infancy or childhood. The disease often exhibits a rapid downward course with death frequently occuring within the first year of life. We describe a unique case of hypertrophic cardiomyopathy due to mitochondrial DNA mutation m.3303C >T in the MT-TL1 gene, diagnosed accidentally in a 35-year-old male. The patient initially presented with stroke of assumed cardioembolic origin due to the presence of two interatrial communications associated with mobile aneurysm of the interatrial septum. No other extracardiac manifestations of mitochondrial disorder were observed.

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