Mitochondrial cardiomyopathies: pathogenesis, diagnosis, and treatment.

Abstract

Mitochondrial cardiomyopathies are a heterogeneous group of disorders caused by dysfunction of mitochondrial energy production due to genetic mutations affecting mitochondrial or nuclear DNA. Mitochondrial cardiomyopathies can include a wide range of cardiac manifestations and are frequently associated with other multisystemic symptoms, including skeletal myopathy, neurological deficits, and metabolic disturbances. Advances in genetic testing have improved diagnostic accuracy, but early identification remains challenging due to the variable clinical presentation and clinical overlap with other cardiomyopathies. Therapeutic strategies are still evolving, with current management focusing on symptom control and mitigation of mitochondrial dysfunction. This review aims to provide a comprehensive overview of the pathophysiology, clinical features, diagnostic approaches, and treatment options for mitochondrial cardiomyopathies, highlighting the ongoing need for research into effective therapies and improved patient outcomes.