Dilation of the aortic root in mitochondrial disease patients
ABSTRACT 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.
Article: Primary mitochondrial arteriopathy[Show abstract] [Hide abstract]
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.Nutrition, metabolism, and cardiovascular diseases: NMCD 05/2012; 22(5):393-9. DOI:10.1016/j.numecd.2012.01.002 · 3.88 Impact Factor
- Circulation Heart Failure 09/2012; 5(5):e81-2. DOI:10.1161/CIRCHEARTFAILURE.112.969675 · 5.95 Impact Factor
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ABSTRACT: Primary mitochondrial disorders are clinically and genetically heterogeneous, caused by an alteration(s) in either mitochondrial DNA or nuclear DNA, and affect the respiratory chain's ability to undergo oxidative phosphorylation, leading to decreased production of adenosine triphosphophate and subsequent energy failure. These disorders may present at any age, but children tend to have an acute onset of disease compared with subacute or slowly progressive presentation in adults. Varying organ involvement also contributes to the phenotypic spectrum seen in these disorders. The childhood presentation of primary mitochondrial disease is mainly due to nuclear DNA mutations, with mitochondrial DNA mutations being less frequent in childhood and more prominent in adulthood disease. The clinician should be aware of the pediatric presentation of mitochondrial disease and have an understanding of the myriad of nuclear genes responsible for these disorders. The nuclear genes can be best understood by utilizing a classification system of location and function within the mitochondria.Journal of the American Society for Experimental NeuroTherapeutics 03/2013; 10(2). DOI:10.1007/s13311-013-0185-6 · 3.88 Impact Factor