Cross-Sectional and Longitudinal Assessment of Aortic Root Dilation and Valvular Anomalies in Hypermobile and Classic Ehlers-Danlos Syndrome

Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
The Journal of pediatrics (Impact Factor: 3.79). 12/2010; 158(5):826-830.e1. DOI: 10.1016/j.jpeds.2010.11.023
Source: PubMed


To delineate the prevalence of cardiac findings in hypermobile and classic Ehlers-Danlos syndrome and provide longitudinal analysis of aortic root growth.
A retrospective chart review was conducted, and data were analyzed for cross-sectional prevalence of aortic dilation and valvular anomalies. The clinical implications of aortic root growth were determined by assessment of progression of aortic root measurements over time and clinical symptoms.
Patients whose first echocardiogram was obtained in late childhood or adulthood were less likely to have aortic dilation (P < .002) than those whose first echocardiogram was obtained in early childhood. Longitudinally, seven individuals had dilated aortas before age 14, and only one individual continued to show dilation after age 14 (P = .0143). No patient with a normal aortic root in childhood had development of dilation in adulthood. Fifteen of the 252 patients (6.0%) had mitral valve prolapse (MVP), although only one patient (0.4%) had MVP that was mild to moderate.
Although aortic root size and MVP are increased in patients with these types of Ehlers-Danlos syndrome, they tend to be of little clinical consequence. Echocardiography may still be warranted as part of cardiovascular assessment, but decreased frequency of screening is recommended especially in symptom-free adults.

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    • " patients commonly receive a diagnosis after referral to emergency surgeons for vascular dissection / rupture [ Pepin et al . , 2000 ; Oderich et al . , 2005 ] . In JHS / EDS - HT aortic dissections are extremely rare , and aortic root ectasia is observed with an overall incidence of approximatively 12% without an in - creased risk of dissection [ Atzinger et al . , 2011 ] . In vEDS visceral rupture ( i . e . , bowel , lungs , liver , spleen , uterus during pregnancy , heart ) may also occur for internal organs fragility [ Drera et al . , 2011 ; Murray et al . , 2014 ] ; in JHS / EDS - HT internal organs rupture is not reported , whereas visceroptosis due to ligaments hypoplasia and deterioration may be"
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    ABSTRACT: Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is an evolving and protean disorder mostly recognized by generalized joint hypermobility and without a defined molecular basis. JHS/EDS-HT also presents with other connective tissue features affecting a variety of structures and organs, such as skin, eye, bone, and internal organs. However, most of these signs are present in variable combinations and severity in many other heritable connective tissue disorders. Accordingly, JHS/EDS-HT is an "exclusion" diagnosis which needs the absence of any consistent feature indicative of other partially overlapping connective tissue disorders. While both Villefranche and Brighton criteria include such an exclusion as a mandatory item, a systematic approach for reaching a stringent clinical diagnosis of JHS/EDS-HT is still lacking. The absence of a consensus on the diagnostic approach to JHS/EDS-HT concerning its clinical boundaries with similar conditions contribute to limit our actual understanding of the pathologic and molecular bases of this disorder. In this review, we revise the differential diagnosis of JHS/EDS-HT with those heritable connective tissue disorders which show a significant overlap with the former and mostly include EDS classic, vascular and kyphoscoliotic types, osteogenesis imperfecta, Marfan syndrome, Loeys-Dietz syndrome, arterial tortuosity syndrome, and lateral meningocele syndrome. A diagnostic flow chart is also offered with the attempt to support the less experienced clinician in stringently recognizing JHS/EDS-HT and stimulate the debate in the scientific community for both management and research purposes. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.
    Full-text · Article · Mar 2015 · American Journal of Medical Genetics Part C Seminars in Medical Genetics
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    • "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]. Of note, at variance with other HCTDs with reduced life span, in all but one patient aortic dilatation did not show any progression in adulthood. "
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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.
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    ABSTRACT: The Ehlers-Danlos syndrome consists of a group of inherited connective tissue disorders caused by defects in the synthesis of collagen. The vascular type 4 form of Ehlers-Danlos syndrome (VEDS) is associated with serious vascular complications in young adults, such as the spontaneous rupture of large-caliber and medium-caliber arteries, often without true aneurysm formation or dissection. VEDS is inherited as an autosomal dominant trait that is caused by mutations in the COL3A1 gene. It affects the synthesis and structure of the pro a1 (III) chain of collagen type III, which causes vascular wall weakness. The diagnosis of VEDS is made from major and minor clinical criteria and can be confirmed by abnormalities in procollagen production and molecular genetic testing. Recently, the results of a study using the b-blocker celiprolol demonstrated a reduction in vascular complications of VEDS. The mechanisms of benefit may be related to a reduction in vascular hemodynamic stress with exercise and/or through a reduction in transforming growth factor-b. Inhibitors of the renin-angiotensin system may also be beneficial in VEDS. Surgery may be beneficial in treating the complications of VEDS.
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