Cardiac Involvement in Mitochondrial Disorders

Abstract Purpose of ReviewWe review pathophysiology and clinical features of mitochondrial disorders manifesting with cardiomyopathy.Recent FindingsMechanistic studies have shed light into the underpinnings of mitochondrial disorders, providing novel insights into mitochondrial physiology and identifying new therapeutic targets.SummaryMitochondrial disorders are a group of rare genetic diseases that are caused by mutations in mitochondrial DNA (mtDNA) or in nuclear genes that are essential to mitochondrial function. The clinical picture is extremely heterogeneous, the onset can occur at any age, and virtually, any organ or tissue can be involved. Since the heart relies primarily on mitochondrial oxidative metabolism to fuel contraction and relaxation, cardiac involvement is common in mitochondrial disorders and often represents a major determinant of their prognosis.
Source: Current Heart Failure Reports - Category: Cardiology Source Type: research