Cardiac Involvement in Mitochondrial Disorders


Mechanistic studies have shed light into the underpinnings of mitochondrial disorders, providing novel insights into mitochondrial physiology and identifying new therapeutic targets. Mitochondrial 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. © 2023. The Author(s).

Authors Popoiu TA, Dudek J, Maack C, Bertero E
Journal Current heart failure reports
Publication Date 2023 Feb;20(1):76-87
PubMed 36802007
PubMed Central PMC9977856
DOI 10.1007/s11897-023-00592-3

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