open access

Vol 15, No 2 (2020)
Review Papers
Published online: 2020-03-28
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Mitochondrial diseases - what the cardiologist should know?

Olga Karen Zdończyk, Biruta Kierdaszuk, Katarzyna Kurnicka, Piotr Pruszczyk
DOI: 10.5603/FC.2020.0020
·
Folia Cardiologica 2020;15(2):122-129.

open access

Vol 15, No 2 (2020)
Review Papers
Published online: 2020-03-28

Abstract

Mitochondrial diseases (MD) are a heterogeneous group of rare genetically determined disorders, characterized by mitochondrial respiratory chain defect and subsequent energy metabolism imbalance. Due to almost exclusive aerobic metabolism of the heart, cardiac involvement in MD is common and can be accompanied by other manifestations of the multi-organ involvement, but may be also the first or the sole clinical manifestation of MD. All tissues of the heart may be affected but the most frequently affected tissue is the myocardium. The most frequent cardiac manifestation found in MD are cardiomyopathies, but cardiac abnormalities may be varied and include arrhythmias, heart failure, pulmonary hypertension, dilation of the aortic root and pericardial effusion. Given the progressive nature of cardiac involvement in MD associated with poor prognosis and increased mortality and the fact that it can remain asymptomatic until an advanced stage is reached, often due to limited mobility of patients, cardiac screening should be a part of standard management of MD patients. All patients with cardiac involvement should be reviewed by a cardiologist with an experience and understanding of MD.

Abstract

Mitochondrial diseases (MD) are a heterogeneous group of rare genetically determined disorders, characterized by mitochondrial respiratory chain defect and subsequent energy metabolism imbalance. Due to almost exclusive aerobic metabolism of the heart, cardiac involvement in MD is common and can be accompanied by other manifestations of the multi-organ involvement, but may be also the first or the sole clinical manifestation of MD. All tissues of the heart may be affected but the most frequently affected tissue is the myocardium. The most frequent cardiac manifestation found in MD are cardiomyopathies, but cardiac abnormalities may be varied and include arrhythmias, heart failure, pulmonary hypertension, dilation of the aortic root and pericardial effusion. Given the progressive nature of cardiac involvement in MD associated with poor prognosis and increased mortality and the fact that it can remain asymptomatic until an advanced stage is reached, often due to limited mobility of patients, cardiac screening should be a part of standard management of MD patients. All patients with cardiac involvement should be reviewed by a cardiologist with an experience and understanding of MD.
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Keywords

mitochondrial disease; mitochondrial cardiomyopathy; cardiac involvement; conduction system disease

About this article
Title

Mitochondrial diseases - what the cardiologist should know?

Journal

Folia Cardiologica

Issue

Vol 15, No 2 (2020)

Pages

122-129

Published online

2020-03-28

DOI

10.5603/FC.2020.0020

Bibliographic record

Folia Cardiologica 2020;15(2):122-129.

Keywords

mitochondrial disease
mitochondrial cardiomyopathy
cardiac involvement
conduction system disease

Authors

Olga Karen Zdończyk
Biruta Kierdaszuk
Katarzyna Kurnicka
Piotr Pruszczyk

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