Vascular Elhers-Danlos syndrome (vEDS) is a genetic vascular disease, affecting the production of the collagen type III, a component of the arterial wall, but also in the mitral valve (MV). Some small families studies suggest an association between vEDS and mitral valve prolapse [MVP] but a complete evaluation of MV phenotype on vEDS cohort was never performed.

To describe the MV phenotype in a population of vEDS.

A total of 45 patients with vEDS, with characterized mutation of the COL3A1 gene, were included in a prospective single-center study and assessed by echocardiography.

Among the 45 patients, no MVP was found. MV floppy was observed in 6 patients (13%) but the mean MV thickness of 2.7±0.1mm for all the group was not above normal (normal values [NV] <3mm). MV billowing was observed in 2 patients (4%).35 patients (78%) had mitral insufficiency but none were more than mild (trace 26 [58%] and mild 9 [20%]) and there was no mitral stenosis (mean mitral gradient=1.31±1mmHg). Anterior leaflet length was 24±0.5mm (vs. NV=22–23mm), posterior leaflet length was 13.7±0.3mm (NV=12–13mm) and strut chordae length was 20.4±1mm (NV<20mm). Mitral annulus (MA) diameter was 33.1±0.6mm in the parasternal long axis view (PSLAV) (NV=31.5±0.5mm) and 33.7±0.6mm in apical 4 chambers view (A4CV) (NV=30.5±0.4mm) for men. In women, MA diameter was 30.4±0.5mm in PSLAV (NV=28.3±0.4mm) and 29.5±0.6mm in A4CV (NV=27.7±0.3mm). The ratio between MA diameter and the mitral anterior leaflet height was calculated at 1.3±0.03 (NV<1.3). Two case of ruptured mitral chordae with a previously normal echocardiographic MV were observed.

Through a single cohort of vEDS, there was no evidence of MVP despite cases of chordal ruptured. MA and mitral leaflets were larger than the classical published value. More studies are needed to better characterized the biomecanic of the MV apparatus explaining the rare occurrence of MV chordae rupture.