Prevalence of aortic root dilation in the Ehlers-Danlos syndrome

Abstract

Purpose: To determine the prevalence of proximal aortic abnormalities in patients with Ehlers-Danlos syndrome (EDS). Methods: In a prospective cohort study, aortic measurements by two-dimensional echocardiography were performed on consecutive EDS patients. Results: Twenty-eight percent (20 of 71) had aortic root dilation (ARD) (Ͼ ϩ2 SD above population based norms). Key Words: Ehlers-Danlos, echocardiogram, aorta, aortic dilationThe Ehlers-Danlos syndromes (EDS) are a genetically, biochemically, and clinically diverse group of heritable connective tissue disorders having joint laxity and dermal features in common. 1-3 Prior classifications of EDS have included up to 11 disorders. Recently a simplified classification came into use that takes into account increasing clinical experience and advances in our understanding of the molecular pathogenesis of these disorders. Table 1 provides the new Villefranche classification and its relationship to the most recent prior classification in 1988. 2,4 Of these, the classical (EDS types I, II), hypermobile (EDS type III), and vascular (EDS type IV) types are by far the most common.A variety of cardiovascular complications have been associated with EDS, including mitral valve prolapse, rupture of medium-sized arteries, varicose veins, easy bruising, dilation and/or rupture of the aortic sinus and rupture of the aorta. 1,3,[5][6][7][8][9][10][11][12] Pepin et al. 13 recently reported the prevalence of cardiovascular complications in a large cohort of patients with vascular EDS; these primarily involve rupture or dissection of medium-sized arteries and the descending aorta. The prevalence of cardiovascular complications in the classical and hypermobile forms are unknown. We began to perform baseline echocardiographic evaluations on all EDS patients seen in our clinics after having identified a few cases of EDS with aortic root dilation, some of whom had complications. 12 The data indicate that the prevalence of aortic root dilation in these two forms of EDS is higher than previously suspected and that longitudinal follow-up of a large cohort of EDS patients will be necessary to determine whether or to what extent these patients are at risk for serious complications such as aortic rupture, valvular insufficiency, or dissection.

Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency

“…37,38 This may have hampered the identification of cases with COL5A2 haploinsufficiency because of lack of sufficient clinical signs. Although AD may occur in EDS I/II, 39 none of the few (B10) COL5A2 mutations reported so far have been associated with AD. In addition, mice with homozygous Col5a2 deletion survived poorly, possibly because of complications from spinal (but not from cardiovascular) deformities, and showed skin and eye abnormalities as a result of disorganized type I collagen fibrils.…”

The impact of obstructive sleep apnoea on the aorta

“…Ehlers-Danlos syndrome and Loeys-Dietz syndrome) that are associated with aortic complications [66][67][68][69]. However, studies on the prevalence of OSA and the impact of OSA on aortic disease in these conditions are lacking.…”

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type

“…Aortic root dilatation may be more common than previously thought. 10 Spontaneous rupture of large arteries, along with intracranial aneurysms and arteriovenous fistulae, may occur in the rare individual with a severe form of classic EDS but is more frequently associated with vascular EDS.…”