Case Review of Cardiac Imaging Findings in Mitochondrial Disease

Mitochondrial disease can be difficult to diagnose, as each case presents with unique manifestations. Mitochondrial cytopathies can result in cardiovascular disease, most commonly hypertrophic cardiomyopathy, left ventricular noncompaction, aortic root dilation and dilated cardiomyopathy. Identification of one of these cardiac disorders may prompt further investigation to exclude mitochondrial disease. We include a comprehensive literature review and discussion about cardiac imaging used to detect disease in patients with mitochondrial defects.
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