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ABSTRACT: 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.
SUBMITTER: Krishnan A
PROVIDER: S-EPMC10141452 | biostudies-literature | 2023 Apr
REPOSITORIES: biostudies-literature
Krishnan Anish A Wu Kathy K Girgis Laila L Pamphlett Roger R Tomlinson Susan S Muthiah Kavitha K
European heart journal. Case reports 20230417 4
<h4>Background</h4>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.<h4>Case summary</h4>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 diagn ...[more]