title: Hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T diagnosed in an adult male.
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.
authors.affiliation: 2nd Department of Medicine, Department of Cardiovascular Medicine, General University Hospital in Prague, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.
authors.forename: Tomas
authors.initials: T
authors.lastname: Palecek
authors.forename: Marketa
authors.initials: M
authors.lastname: Tesarova
authors.forename: Petr
authors.initials: P
authors.lastname: Kuchynka
authors.forename: Vladimir
authors.initials: V
authors.lastname: Dytrych
authors.forename: Milan
authors.initials: M
authors.lastname: Elleder
authors.forename: Helena
authors.initials: H
authors.lastname: Hulkova
authors.forename: Hana
authors.initials: H
authors.lastname: Hansikova
authors.forename: Tomas
authors.initials: T
authors.lastname: Honzik
authors.forename: Jiří
authors.initials: J
authors.lastname: Zeman
authors.forename: Ales
authors.initials: A
authors.lastname: Linhart
mesh_terms: D000328:Adult; D001706:Biopsy; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D004452:Echocardiography; D004562:Electrocardiography; D006801:Humans; D019028:Magnetic Resonance Imaging, Cine; D008297:Male; D008854:Microscopy, Electron; D008929:Mitochondria, Heart / Q000235:genetics* / Q000648:ultrastructure; D028361:Mitochondrial Diseases / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D009206:Myocardium / Q000473:pathology; D017354:Point Mutation
chemical_list: D004272:DNA, Mitochondrial