Cardiac involvement in classical or hypermobile Ehlers–Danlos syndrome is uncommon



Cardiac–valvular and vascular Ehlers–Danlos syndrome (EDS) have significant cardiovascular issues. The prevalence and significance of such abnormalities in classical (cEDS) or hypermobile EDS (hEDS) remain unclear. We report the prevalence of cardiac abnormalities in patients with cEDS and hEDS.


We identified 532 pediatric patients with potential EDS evaluated at our institution from January 2014 through April 2019 by retrospective chart review. Ninety-five patients (12 cEDS and 83 hEDS patients) met 2017 EDS diagnostic criteria and had an echocardiogram. One patient was excluded due to complex congenital heart disease, and two were excluded due to lack of images. We reviewed echocardiograms for all structural abnormalities.


Of these 95 patients, 1 had mild aortic root dilation, and 1 had mild ascending aorta dilation in the setting of a bicuspid aortic valve. Eleven patients (11.6%) had a cardiac valve abnormality, all of which were trivial to mild. None of the patients required cardiac intervention.


Our results demonstrate that aortic dilation and valvular anomalies are uncommon in cEDS or hEDS patients. Given the lack of evidence, we do not recommend echocardiographic evaluation and surveillance in patients with cEDS and hEDS in the absence of clinical findings or positive family history.

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Fig. 1
Fig. 2: Z-score calculations for aortic dimensions for patients with classical and hypermobile Ehlers–Danlos syndromes (cEDS/hEDS).
Fig. 3: Lack of association of patient age and aortic Z-scores.


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S.L.P. acknowledges funding from the National Heart, Lung, and Blood Institute (K08HL148553).

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Correspondence to Sharon L. Paige MD, PhD.

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Paige, S.L., Lechich, K.M., Tierney, E.S.S. et al. Cardiac involvement in classical or hypermobile Ehlers–Danlos syndrome is uncommon. Genet Med (2020).

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  • Ehlers–Danlos syndrome
  • connective tissue disorders
  • aortopathy
  • aortic dilation
  • echocardiography