Dilation of the aortic root in mitochondrial disease patients

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030 , USA.
Molecular Genetics and Metabolism (Impact Factor: 2.63). 02/2011; 103(2):167-70. DOI: 10.1016/j.ymgme.2011.02.007
Source: PubMed


Mitochondrial cytopathies are genetically, clinically, and biochemically heterogeneous disorders due to defects of oxidative phosphorylation. The heart is highly energy dependent and therefore particularly vulnerable to defects of energy production. Hypertrophic and dilated cardiomyopathy and left ventricular noncompaction are the main cardiac manifestations occurring in mitochondrial cytopathies. Here we report ten patients with mitochondrial cytopathy presenting with dilation of the aorta. This clinical feature has not been previously reported to be associated with mitochondrial disease. The long term consequences of this observation are unknown and follow-up studies are needed to clarify the impact of this finding in the population of subjects with mitochondrial cytopathies. The mechanism(s) involved in the pathogenesis of this complication are unknown and may be potentially implicated also in the pathogenesis of other more common etiologies of aortic aneurysmal disease.

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    ABSTRACT: One of the most frequently affected organs in mitochondrial disorders (MIDs), defined as hereditary diseases due to affection of the mitochondrial energy metabolism, is the heart. Cardiac involvement (CI) in MIDs has therapeutic and prognostic implications. This review aims at summarizing and discussing the various cardiac manifestations in MIDs. Data for this review were identified by searches of MEDLINE, Current Contents, and PubMed using appropriate search terms. CI in MIDs may be classified according to various different criteria. In the present review cardiac abnormalities in MIDs are discussed according to their frequency with which they occur. CI in MIDs includes cardiomyopathy, arrhythmias, heart failure, pulmonary hypertension, dilation of the aortic root, pericardial effusion, coronary heart disease, autonomous nervous system dysfunction, congenital heart defects, or sudden cardiac death. The most frequent among the cardiomyopathies is hypertrophic cardiomyopathy, followed by dilated cardiomyopathy, and noncompaction. CI in MID is more variable and prevalent than previously thought. All tissues of the heart may be variably affected. The most frequently affected tissue is the myocardium. MIDs should be included in the differential diagnoses of cardiac disease. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.
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    ABSTRACT: Whether arteries are affected in mitochondrial disorders (MIDs) was under debate for years but meanwhile there are strong indications that large and small arteries are primarily or secondarily affected in MIDs. When reviewing the literature for appropriate studies it turned out that vascular involvement in MIDs includes primary or secondary micro- or macroangiopathy of the cerebral, cervical, and retinal arteries, the aorta, the iliac arteries, the brachial arteries, or the muscular arteries. Arteriopathy in MIDs manifests as atherosclerosis, stenosis, occlusion, dissection, ectasia, aneurysm formation, or arteriovenous malformation. Direct evidence for primary cerebral microangiopathy comes from histological studies and indirect evidence from imaging and perfusion studies of the brain. Microangiopathy of the retina is highly prevalent in Leber's hereditary optic neuropathy. Macroangiopathy of the carotid arteries may be complicated by stroke. Arteriopathy of the aorta may result in ectasia, aneurysm formation, or even rupture. Further evidence for arteriopathy in MIDs comes from the frequent association of migraine with MIDs and the occurrence of premature atherosclerosis in MID patients without classical risk factors. Mitochondrial arteriopathy most frequently concerns the cerebral arteries and may result from the underlying metabolic defect or secondary from associated vascular risk factors. Vascular involvement in MIDs has a strong impact on the prognosis and outcome of these patients.
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