Prevalence of aortic root dilation in Ehlers-Danlos Syndrome

Division of Human Genetics, Children's Hospital Research Foundation, Cincinnati, OH 45229-3039, USA.
Genetics in Medicine (Impact Factor: 7.33). 06/2002; 4(3):112-7. DOI: 10.1097/00125817-200205000-00003
Source: PubMed


To determine the prevalence of proximal aortic abnormalities in patients with Ehlers-Danlos syndrome (EDS).
In a prospective cohort study, aortic measurements by two-dimensional echocardiography were performed on consecutive EDS patients.
Twenty-eight percent (20 of 71) had aortic root dilation (ARD) (> +2 SD above population based norms). Fourteen of 42 individuals with the classical form of EDS (types I/II) and 6 of 29 individuals with the hypermobile form (type III) had ARD, with no gender differences.
ARD is a common finding in EDS. Longitudinal studies are indicated to determine progression of ARD and its clinical significance.

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    • "EDS typing is essential to evaluate the risk of aortic aneurysms. Of all the types, the classical, hypermobile and vascular ones are those who the aortic dilatation is found with a higher prevalence [16] [17] [18] [19] [20] [21]. Vascular EDS (formerly EDS type IV) is an autosomal dominant disorder of type III collagen caused by mutations in COL3A1 and occurs in 1 in 100,000 to 1 in 200,000 patients [10] [11] [12]. "
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    ABSTRACT: There are many genetic syndromes associated with the aortic aneurysmal disease which include Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), Loeys-Dietz syndrome (LDS), familial thoracic aortic aneurysms and dissections (TAAD), bicuspid aortic valve disease (BAV), and autosomal dominant polycystic kidney disease (ADPKD). In the absence of familial history and other clinical findings, the proportion of thoracic and abdominal aortic aneurysms and dissections resulting from a genetic predisposition is still unknown. In this study, we propose the review of the current genetic knowledge in the aortic disease, observing, in the results that the causative genes and molecular pathways involved in the pathophysiology of aortic aneurysm disease remain undiscovered and continue to be an area of intensive research.
    Full-text · Article · Jan 2013 · International journal of vascular medicine
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    • "However, true mitral valve prolapse occurs in ~6% patients only [120, 121], and this incidence does not seem significantly higher than controls [120]. Early investigations pointed out a high rate of aortic root dilatation in EDS-HT with risk of possible life-threatening complications [122]. A subsequent study on 252 patients with classic EDS and EDS-HT fixed to 10.8% the overall incidence of aortic root dilatation in these conditions, with the latter showing the highest risk (12%) [121]. "
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    ABSTRACT: Ehlers-Danlos syndrome, hypermobility type, constituting a phenotypic continuum with or, perhaps, corresponding to the joint hypermobility syndrome (JHS/EDS-HT), is likely the most common, though the least recognized, heritable connective tissue disorder. Known for decades as a hereditary condition with predominant rheumatologic manifestations, it is now emerging as a multisystemic disorder with widespread manifestations. Nevertheless, the practitioners' awareness of this condition is generally poor and most patients await years or, perhaps, decades before reaching the correct diagnosis. Among the various sites of disease manifestations, skin and mucosae represent a neglected organ where the dermatologist can easily spot diagnostic clues, which consistently integrate joint hypermobility and other orthopedic/neurologic manifestations at physical examination. In this paper, actual knowledge on JHS/EDS-HT is summarized in various sections. Particular attention has been posed on overlooked manifestations, including cutaneous, mucosal, and oropharyngeal features, and early diagnosis techniques, as a major point of interest for the practicing dermatologist. Actual research progresses on JH/EDS-HT envisage an unexpected link between heritable dysfunctions of the connective tissue and a wide range of functional somatic syndromes, most of them commonly diagnosed in the office of various specialists, comprising dermatologists.
    Full-text · Article · Nov 2012
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    • "Catastrophic arterial rupture is a known complication of the vascular type of EDS [Pepin et al., 2000]. Mild dilatation of the aortic root (AR) as well as mitral valve prolapse (MVP) has been previously described in classical and hypermobile EDS [Tiller et al., 1998; Wenstrup et al., 2002]. In this study, we present echocardiographic data on a cohort of 38 patients with classical and hypermobile EDS. "
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    ABSTRACT: Structural cardiovascular alterations in the classical and hypermobile forms of Ehlers-Danlos syndrome(EDS) warrant investigation. We have examined a cohort of 38 patients with hypermobile and classical EDSs using two-dimensional echocardiography. The cohort includes 7 males and 31 females, with an age range from 12-60 years. Altered echocardiographic parameters were seen in the initial cross-sectional data analysis in 24/38 patients. Five of the 38 participants had mildly dilated aortic root (AR) or sinuses of Valsalva (SV), and an additional 7 patients had an abnormal pouching of the SV, although the absolute dimensions did not exceed the normal range. Ten patients had mild mitral, tricuspid, or aortic regurgitation, and only one patient had mitral valve prolapse (MVP). Three patients had low normal systolic function; three had evidence of mildly elevated pulmonary pressures, and two patients had mild concentric left ventricular hypertrophy (LVH). Five patients had evidence of impaired left ventricular relaxation (LVR) based on mitral valve E to A velocity ratio. Interestingly, 26/38 subjects demonstrated a prominent right coronary artery (RCA) easily visualized by trans-thoracic echocardiography, and 10/38 had an elongated cardiac silhouette on the 4-chamber apical views. The "pouching" shape of the SV was more common in hypermobile type than in the classical type of EDS. The study is ongoing and will accrue longitudinal data on 100 subjects with classical and hypermobile EDSs at 2-year intervals.
    Full-text · Article · Jan 2006 · American Journal of Medical Genetics Part A
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