Key result
Mitochondrial m.3243A>G mutation underlies unexplained persistent troponin elevation and cardiomyopathy.
Why the study?
Mitochondrial diseases represent an important potential cause of cardiomyopathy with multisystem manifestations, requiring timely diagnosis due to potential reproductive implications for offspring.
Case Report (n=1)
Mitochondrial disorders should be considered in the differential diagnosis of undifferentiated cardiomyopathies presenting with persistent troponin elevation.
Mitochondrial cytopathy warrants consideration in unexplained troponin elevation with cardiomyopathy; single-case evidence extends the differential but leaves prevalence and management open.
Background: Mitochondrial diseases represent an important potential cause of cardiomyopathy and should be considered in patients presenting with multisystem manifestations. Timely diagnosis of a mitochondrial disorder is needed as it can have reproductive implications for the offspring of the proband. Case Summary: We describe a case of undifferentiated rising and persistent troponin elevation in a 70-year-old female with only mild heart failure symptoms and signs. An eventual diagnosis of a mitochondrial cytopathy was made after genetic testing, striated muscle, and endomyocardial biopsy. Multidisciplinary involvement was vital in securing the ultimate diagnosis and is a key lesson from this case. On follow up, with institution of heart failure therapy including cardiac resynchronisation device therapy there was improvement in exercise tolerance and symptoms. Discussion: For discussion is the investigation of undifferentiated cardiomyopathies and consideration of mitochondrial disorders as an important diagnosis to exclude prior to diagnosis as an idiopathic cardiomyopathy.
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Krishnan et al. (2023) conducted a case report in Mitochondrial cytopathy presenting as cardiomyopathy (n=1). MT-TL1 m.3243A>G mutation was evaluated. A mitochondrial cytopathy with a MT-TL1 m.3243A>G mutation was identified as the underlying cause in a 70-year-old female presenting with unexplained persistent troponin elevation and cardiomyopathy.
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