Why the study?
The clinical features of mitochondrial cardiomyopathy are diverse and its diagnosis is challenging and usually based on biopsy.
Left ventricular endomyocardial biopsy is a valuable and safe diagnostic tool for identifying mitochondrial cardiomyopathy in young patients presenting with unexplained heart failure and multiorgan involvement.
Alerts clinicians to MCM in young adults with dilated cardiomyopathy plus diabetes and renal impairment; extends phenotypic spectrum but remains hypothesis-generating.
BACKGROUND: The clinical features of mitochondrial cardiomyopathy (MCM) are diverse. It can present as hypertrophic cardiomyopathy or dilated cardiomyopathy. The diagnosis of MCM is challenging and usually based on biopsy. CASE PRESENTATION: The 30-year-old man was admitted to hospital due to dyspnea for 1 month and edema of both lower extremities for 1 week. Echocardiography suggested a whole heart enlargement, a whole heart diminished function. Renal impairment and diabetes were observed. Coronary angiography showed single-vessel disease (90% stenosis in the ostium of a small marginal branch). Left ventricular endomyocardial biopsy was performed. CONCLUSION: Myocardial histopathology demonstrated a large number of abnormal mitochondrial accumulation, so the diagnosis was considered as mitochondrial cardiomyopathy.
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Fang et al. (2023) studied this question.
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