title: 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.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030 , USA.
authors.forename: Nicola
authors.initials: N
authors.lastname: Brunetti-Pierri
authors.forename: Ricardo
authors.initials: R
authors.lastname: Pignatelli
authors.forename: Negin
authors.initials: N
authors.lastname: Fouladi
authors.forename: Jeffrey A
authors.initials: JA
authors.lastname: Towbin
authors.forename: John W
authors.initials: JW
authors.lastname: Belmont
authors.forename: William J
authors.initials: WJ
authors.lastname: Craigen
authors.forename: Lee-Jun
authors.initials: LJ
authors.lastname: Wong
authors.forename: John L
authors.initials: JL
authors.lastname: Jefferies
authors.forename: Fernando
authors.initials: F
authors.lastname: Scaglia
mesh_terms: D001011:Aorta / Q000473:pathology*; D002311:Cardiomyopathy, Dilated / Q000209:etiology / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004108:Dilatation, Pathologic / Q000209:etiology* / Q000473:pathology*; D004452:Echocardiography; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D028361:Mitochondrial Diseases / Q000150:complications* / Q000473:pathology*