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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    • "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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