Mitral valve prolapse in sickle cell disease. Presumptive evidence for a linked connective tissue disorder

To determine the prevalence of mitral valve prolapse in sickle cell disease, M-mode echocardiography was performed on 57 patients with sickle cell disease and 35 patients with chronic anemia of end-stage renal disease (anemic control group). In 25% (14/57) of patients with sickle cell disease, unequivocal mitral valve prolapse was diagnosed by echocardiography; all these patients had a mobile systolic click and/or late systolic murmur. This figure was significantly greater than the reported 5% to 6% prevalence in the general adult population, the 1% to 3% prevalence in the black population, and the 3.0% prevalence (1/35) in the anemic control group. The association of mitral valve prolapse and sickle cell disease cannot be explained on the basis of left ventricular size, systolic function, ischemic left ventricular or papillary muscle dysfunction, or chronic anemia. Therefore, a linked connective tissue defect in these two diseases is a hypothesis worthy of further investigation.