Mitral valve prolapse: a consistent manifestation of type IV Ehlers-Danlos syndrome. The pathogenetic role of the abnormal production of type III collagen.

摘要: To evaluate whether abnormal production of type III collagen, the characteristic biochemical feature patients with IV Ehlers-Danlos syndrome, consistently predisposes to mitral valve prolapse, we evaluated family a proband classic syndrome. Production collagen was assessed use cultured skin fibroblasts. Mitral prolapse detected by M-mode and two-dimensional echocardiography. Biochemical abnormalities in echocardiographic findings were completely concordant. All had all subjects normal entirely echocardiograms. Six eight subtle cutaneous abnormalities. The consistent association this suggests that abnormality may give rise prolapse.