: 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.

Cardiovascular involvement in mtDNA disease: diagnosis, management, and therapeutic options / Lioncino, Michele; Monda, Emanuele; Caiazza, Martina; Fusco, Adelaide; Cirillo, Annapaola; Dongiglio, Francesca; Simonelli, Vicenzo; Sampaolo, Simone; Ruggiero, Lucia; Scarano, Gioacchino; Pota, Vicenzo; Frisso, Giulia; Mazzaccara, Cristina; D'Amati, Giulia; Nigro, Gerardo; Russo, Maria Giovanna; Wahbi, Karim; Limongelli, Giuseppe. - In: HEART FAILURE CLINICS. - ISSN 1551-7136. - 18:1(2021), pp. 51-60. [10.1016/j.hfc.2021.07.003]

Cardiovascular involvement in mtDNA disease: diagnosis, management, and therapeutic options

D'Amati, Giulia;
2021

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.
2021
hypertrophic cardiomyopathy; MELAS syndrome; mitochondrial diseases; mtDNA; DNA, mitochondrial; humans; cardiomyopathies; cardiomyopathy, dilated; cardiomyopathy, hypertrophic; mitochondrial diseases
01 Pubblicazione su rivista::01a Articolo in rivista
Cardiovascular involvement in mtDNA disease: diagnosis, management, and therapeutic options / Lioncino, Michele; Monda, Emanuele; Caiazza, Martina; Fusco, Adelaide; Cirillo, Annapaola; Dongiglio, Francesca; Simonelli, Vicenzo; Sampaolo, Simone; Ruggiero, Lucia; Scarano, Gioacchino; Pota, Vicenzo; Frisso, Giulia; Mazzaccara, Cristina; D'Amati, Giulia; Nigro, Gerardo; Russo, Maria Giovanna; Wahbi, Karim; Limongelli, Giuseppe. - In: HEART FAILURE CLINICS. - ISSN 1551-7136. - 18:1(2021), pp. 51-60. [10.1016/j.hfc.2021.07.003]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1589697
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