Aortic root dilatation in Ehlers-Danlos syndrome types I, II and III A report of five cases

• Published in: Clinical genetics Vol. 53; no. 6; pp. 460 - 465
• Main Authors: Tiller, George E., Cassidy, Suzanne B., Wensel, Christine, Wenstrup, Richard J.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01-06-1998; Blackwell
• Subjects: Adult; Aorta - abnormalities; aortic root dilatation; Biological and medical sciences; Child; Child, Preschool; Dilatation, Pathologic; Ehlers-Danlos syndrome; Ehlers-Danlos Syndrome - pathology; Female; Humans; joint laxity; Male; Medical sciences; Middle Aged; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; Sonography; Human; Skin disease; Echocardiography; Elastic tissue disease; Root; Family study; Diseases of the osteoarticular system; Aneurysm; Cardiovascular disease; Genetic disease; Arterial disease; Vascular disease; Case study; Phenotype; Vascular ring; Ehlers Danlos syndrome; Systemic disease; Aorta; Complication; Aortic disease
• ISSN: 0009-9163; 1399-0004
• DOI: 10.1111/j.1399-0004.1998.tb02595.x

We have identified five families in whom individuals affected with the Ehlers‐Danlos syndrome (EDS) types I, II or III had aortic root dilatation (ARD). All propositi had a low upper/lower segment ratio but no other diagnostic skeletal or ocular features of Marfan syndrome. Their skin had the soft, velvety texture characteristic of EDS and all had significant joint laxity. Probands included a 4‐year‐old girl with EDS type I, 4‐and 8‐year‐old girls with EDS type HI, a 35‐year‐old male with EDS type II, and a 51‐year‐old female with EDS type III. Review of these cases suggests the need for multicenter clinical studies in order to determine the prevalence and the rate of progression of ARD in EDS types I, II, and III. Such studies are necessary to determine whether echocardiograms (including measurement of aortic root diameter) should be considered on initial evaluation of all patients with mild forms of EDS.