title: Dilated aortic root and severe aortic regurgitation causing dilated cardiomyopathy in classic Ehlers-Danlos syndrome.
abstract: Ehlers-Danlos syndrome (EDS) is a group of heritable disorders characterised by vast clinical heterogeneity ranging from the classic constellation of symptoms including skin hyperextensibility, joint hypermobility and skin fragility to the exceedingly critical consequences of arterial rupture and visceral perforation. We describe the case of a 65-year-old male with a history of classic EDS who reported of dyspnoea on exertion, orthopnoea, fatigue and palpitations. He was found to have dilated cardiomyopathy with an ejection fraction of 35%, aortic root dilation and severe aortic valve regurgitation. The authors intend to draw attention to the rare cardiac manifestations of this condition and the therapeutic challenges involved in managing such patients.
authors.affiliation: Department of Medicine, Galway University Hospital, Galway, Ireland.
authors.forename: Abir
authors.initials: A
authors.lastname: Zainal
authors.affiliation: Royal College of Surgeons in Ireland School of Medicine, Dublin, Ireland.
authors.forename: Mahmoud Nidal
authors.initials: MN
authors.lastname: Hamad
authors.affiliation: Department of Internal Medicine, Pennsylvania Hospital, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
authors.forename: Syed Yaseen
authors.initials: SY
authors.lastname: Naqvi
mesh_terms: D000368:Aged; D001011:Aorta / Q000503:physiopathology*; D001022:Aortic Valve Insufficiency / Q000150:complications*; D002311:Cardiomyopathy, Dilated / Q000150:complications*; D004535:Ehlers-Danlos Syndrome / Q000150:complications*; D017809:Fatal Outcome; D006801:Humans; D008297:Male