Publication Date

2013

Journal

The Texas Heart Journal

PMID

24082366

Publication Date(s)

2013

Language

English

PMCID

PMC3783139

PubMedCentral® Posted Date

2013

PubMedCentral® Full Text Version

Post-Print

Published Open-Access

yes

Keywords

Cardiomyopathies/genetics/pathology/therapy, DNA, mitochondrial/analysis/genetics, energy metabolism/physiology, electron transport/physiology, genetic predisposition to disease, heart diseases/genetics, mitochondria/physiology, mitochondrial diseases/complications/diagnosis/genetics/physiopathology/drug therapy, risk factors, ventricular dysfunction, left/genetics

Abstract

Mitochondrial disease is a heterogeneous group of multisystemic diseases that develop consequent to mutations in nuclear or mitochondrial DNA. The prevalence of inherited mitochondrial disease has been estimated to be greater than 1 in 5,000 births; however, the diagnosis and treatment of this disease are not taught in most adult-cardiology curricula. Because mitochondrial diseases often occur as a syndrome with resultant multiorgan dysfunction, they might not immediately appear to be specific to the cardiovascular system. Mitochondrial cardiomyopathy can be described as a myocardial condition characterized by abnormal heart-muscle structure, function, or both, secondary to genetic defects involving the mitochondrial respiratory chain, in the absence of concomitant coronary artery disease, hypertension, valvular disease, or congenital heart disease. The typical cardiac manifestations of mitochondrial disease—hypertrophic and dilated cardiomyopathy, arrhythmias, left ventricular myocardial noncompaction, and heart failure—can worsen acutely during a metabolic crisis. The optimal management of mitochondrial disease necessitates the involvement of a multidisciplinary team, careful evaluations of patients, and the anticipation of iatrogenic and noniatrogenic complications.

In this review, we describe the complex pathophysiology of mitochondrial disease and its clinical features. We focus on current practice in the diagnosis and treatment of patients with mitochondrial cardiomyopathy, including optimal therapeutic management and long-term monitoring. We hope that this information will serve as a guide for practicing cardiologists who treat patients thus affected.

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