부산대학교 도서관

Introduction:The cardiac-valvular and vascular subtypes of Ehlers-Danlos Syndrome (EDS) have significant cardiovascular issues, specifically aortic or mitral valve dysfunction, and arterial dilation and dissection. The prevalence and significance of such abnormalities in patients with classical (cEDS) or hypermobile EDS (hEDS) remain unclear. In the absence of guidelines, many experts recommend screening and surveillance echocardiograms for all patients with EDS, regardless of subtype. Here we report the prevalence of structural or functional cardiac abnormalities in a large cohort of cEDS and hEDS patients.Hypothesis:Clinically meaningful cardiac abnormalities in patients with cEDS and hEDS are uncommon.Methods:Retrospective chart review identified 532 pediatric patients with potential EDS evaluated at our institution from January 2014 through April 2019. Of those with confirmed hEDS and cEDS, echocardiograms were obtained in 99 hEDS and 14 cEDS patients. We reviewed echocardiograms for aortic dilation, aortic or mitral valve abnormalities, and other structural heart disease.Results:Of the 113 patients reviewed, 102 (90.3%) had normal echocardiograms. Two patients had a dilated aortic root at the sinuses of Valsalva (Z-scores of 2.19 and 2.49), and one patient had ascending aorta dilation (Z-score 2.43). The aortic annulus Z-scores were all within normal limits. Two patients had mild mitral valve abnormalities (thickening and redundancy). Three patients had borderline or mild mitral valve prolapse without regurgitation. Three patients had congenital heart disease unlikely to be related to EDS and required intervention. In total, 8 patients (7.1%) had echocardiographic findings likely attributable to EDS, all of which were mild and did not require intervention.Conclusions:Clinically significant cardiovascular involvement in patients with cEDS or hEDS is uncommon. When present, valvular anomalies or aortic dilation were mild and did not require intervention. Echocardiographic evaluation and surveillance in patients with cEDS and hEDS is unnecessary in the absence of clinical findings or positive family history.