This study was designed to determine the prevalence of mitral valve pr
olapse and aortic insufficiency in home-reared young persons with Down
syndrome. Of the 36 individuals (ages 20-32 years) enrolled in this s
tudy, 20 had abnormal echocardiographic findings. Thirteen patients ha
d mitral valve prolapse, 3 had both mitral valve prolapse and aortic i
nsufficiency, 2 had only aortic insufficiency, and 2 had other mitral
valve disorders. In 14 of the 16 patients with mitral valve prolapse,
a midsystolic click was heard. Theories of the pathogenesis and possib
le complications of mitral valve prolapse and its relationship to exer
cise and sport activities are discussed.