Dilation of the aortic root in mitochondrial disease patients

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.