Aortic root dilatation complicates Ehlers-Danlos syndrome

Abstract

Although aortic root dilatation (ARD) is a well-known complication of the Marfan syndrome, it has generally been believed to be a rare finding in Ehlers-Danlos syndrome (EDS). Based on experience with a few cases, we performed a prospective cohort study to determine the prevalence of aortic root dilatation in the Ehlers-Danlos syndromes. Aortic measurements by two dimensional echocardiography were performed on 77 consecutive children and adults in a clinic population who had Ehlers-Danlos syndrome types I, II, or III (1988 Berlin classification) or the classical or hypermobile types of EDS (1997 Villefranche Nosology). There were 32 males and 45 females. The average age at first echocardiogram was 24.7 years with a range of 1-62 years. Twenty-eight percent (22/77) of patients in the study population had ARD, as defined by a measurement > +2 S.D above population based norms (Roman et al., Am. J. Card. 64:507-512); the average age at the time of ARD diagnosis was 22.4 years with a range of 5-62 years. Thirteen of 46 individuals with the classical form of EDS (types I/II) and 9 of 31 individuals with the hypermobile form (type III) had ARD, with males and females being similarly affected. Prevalence of ARD was similar at both clinical centers. At one center (CHMC), 4 of the 12 individuals with ARD were referred on the basis of possible ARD, and the diagnosis of EDS was made subsequently. Removing these four cases as a possible source of ascertainment bias would reduce prevalence from 28% (12/45) to 20% (8/41). These results indicate that ARD is a relatively common finding in EDS. Larger cross-sectional studies and longitudinal studies are indicated to refine prevalence data, to correlate ARD with genotype, and to determine progression of ARD and its clinical significance.