Key result
A 35-year-old male was diagnosed with hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T after initially presenting with a stroke of assumed cardioembolic origin.
Case Report (n=1)
No
Mitochondrial cardiomyopathy due to the m.3303C>T mutation can present in adulthood as hypertrophic cardiomyopathy without extracardiac symptoms.
May warrant mitochondrial DNA testing in young adults with HCM plus stroke; leaves open broader phenotypic spectrum of m.3303C>T.
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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Paleček et al. (2012) conducted a case report in Hypertrophic Cardiomyopathy (n=1). Mitochondrial DNA mutation m.3303C>T was evaluated. A 35-year-old male was diagnosed with hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T after initially presenting with a stroke of assumed cardioembolic origin.
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