1. Cardiovascular Involvement in mtDNA Disease
- Author
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Giulia d'Amati, Simone Sampaolo, Martina Caiazza, Adelaide Fusco, Karim Wahbi, Emanuele Monda, Vicenzo Pota, Giulia Frisso, Maria Giovanna Russo, Gerardo Nigro, Gioacchino Scarano, Michele Lioncino, Vicenzo Simonelli, Giuseppe Limongelli, Lucia Ruggiero, Cristina Mazzaccara, Francesca Dongiglio, and Annapaola Cirillo
- Subjects
Mitochondrial DNA ,business.industry ,Cardiomyopathy ,Hypertrophic cardiomyopathy ,Dilated cardiomyopathy ,General Medicine ,Disease ,medicine.disease ,MELAS syndrome ,Bioinformatics ,Heart failure ,Medicine ,Left ventricular noncompaction ,Cardiology and Cardiovascular Medicine ,business - Abstract
Mitochondrial diseases (MD) include an heterogenous group of systemic disorders caused by sporadic or inherited mutations in nuclear or mitochondrial DNA (mtDNA), causing impairment of oxidative phosphorylation system. Hypertrophic cardiomyopathy is the dominant pattern of cardiomyopathy in all forms of mtDNA disease, being observed in almost 40% of the patients. Dilated cardiomyopathy, left ventricular noncompaction, and conduction system disturbances have been also reported. In this article, the authors discuss the current clinical knowledge on MD, focusing on diagnosis and management of mitochondrial diseases caused by mtDNA mutations.
- Published
- 2022
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