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Cardiac complications in inherited mitochondrial diseases

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Abstract

Maternally mitochondrial dysfunction includes a heterogeneous group of genetic disorders which leads to the impairment of the final common pathway of energy metabolism. Coronary heart disease and coronary venous disease are two important clinical manifestations of mitochondrial dysfunction due to abnormality in the setting of underlying pathways. Mitochondrial dysfunction can lead to cardiomyopathy, which is involved in the onset of acute cardiac and pulmonary failure. Mitochondrial diseases present other cardiac manifestations such as left ventricular noncompaction and cardiac conduction disease. Different clinical findings from mitochondrial dysfunction originate from different mtDNA mutations, and this variety of clinical symptoms poses a diagnostic challenge for cardiologists. Heart transplantation may be a good treatment, but it is not always possible, and other complications of the disease, such as mitochondrial encephalopathy, lactic acidosis, and stroke-like syndrome, should be considered. To diagnose and treat most mitochondrial disorders, careful cardiac, neurological, and molecular studies are needed. In this study, we looked at molecular genetics of MIDs and cardiac manifestations in patients with mitochondrial dysfunction.

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Abbreviations

ANT:

Adenine nucleotide translocator

BSCL2:

Berardinelli-Seip congenital lipodystrophy

CMP:

Cardiomyopathy

COX:

Cytochrome c oxidase

ECMP:

Encephalocardiomyopathy

MELAS:

Mitochondrial encephalopathy lactic acidosis and stroke-like episodes

MERRF:

Myoclonus epilepsy red ragged fibers

MID:

Mitochondrial dysfunction

MRP:

Mitochondrial ribosomal protein

MTO:

Mitochondrial tRNA translation optimization

ND1:

NADH-ubiquinone oxidoreductase chain 1

NDUFAF1:

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 1

OXPHOS:

Oxidation-phosphorylation

ROS:

Reactive oxygen species

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Authors and Affiliations

  1. Echocardiography Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran

    Mohaddeseh Behjati

  2. Pediatric Cardiovascular Research Center, Cardiovascular Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran

    Mohammad Reza Sabri

  3. Department of Neurosurgery, Isfahan University of Medical Sciences, Isfahan, Iran

    Masood Etemadi Far

  4. Anatomical Sciences Research Center, Institute for Basic Sciences, Kashan University of Medical Sciences, Kashan, Iran

    Majid Nejati

  5. Core Research Lab, Kashan University of Medical Sciences, Kashan, Iran

    Majid Nejati

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Behjati, M., Sabri, M.R., Etemadi Far, M. et al. Cardiac complications in inherited mitochondrial diseases. Heart Fail Rev 26, 391–403 (2021). https://doi.org/10.1007/s10741-020-10009-1

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