A mitochondrial cytopathy presenting with persistent troponin elevation: case report

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.