Morphological and functional echocardiographic findings in pediatric patients diagnosed with hypermobile Ehlers-Danlos syndrome.

INTRODUCTION

Hypermobile Ehlers-Danlos syndrome (hEDS) is a connective tissue disorder that may involve the cardiovascular system. While mitral valve prolapse (MVP) and aortic root dilatation (ARD) have been documented in adults with hEDS, their prevalence in children remains unclear.

METHODS

This study evaluated 28 pediatric patients with hEDS and 28 age- and body surface area-matched healthy controls using two-dimensional echocardiography, Doppler, Tissue Doppler Imaging (TDI), and Speckle Tracking Echocardiography (STE), including global longitudinal strain (GLS) analysis.

RESULTS

Nine hEDS patients (32%) exhibited MVP. Although aortic root and ascending aorta Z-scores remained within the normal range, they were significantly higher in hEDS patients compared to controls. TDI revealed reduced late diastolic septal myocardial velocities (p = 0.004). While left ventricular ejection fraction (EF) was preserved, hEDS patients showed significantly reduced GLS values (p < 0.001), indicating subclinical myocardial dysfunction. hEDS diagnosis correlated independently with reduced GLS (p = 0.01), but not with EF.

DISCUSSION: These findings suggest that cardiac alterations such as MVP can manifest in childhood and that subtle myocardial impairment can occur despite normal EF. STE and GLS analyses are valuable tools for the early detection of functional abnormalities. Routine cardiac follow-up in pediatric hEDS patients may help identify and monitor these early cardiovascular changes, potentially improving long-term outcomes.