Mitral valve prolapse and mitral regurgitation are common in patients withpolycystic kidney disease type 1

Patients with autosomal dominant polycystic kidney disease (ADPKD) have an increased occurrence of cardiac valve abnormalities. However, the prevalenc e of cardiac abnormalities in patients with a uniform genotype of ADPKD has not been previously reported. We performed M-mode and color Doppler echoca rdiography on 109 patients from 16 families with polycystic kidney disease type 1 (PKD1). Findings were compared with those of 73 unaffected family me mbers and 73 healthy controls. Mitral valve prolapse was found in 26% of pa tients with PKD1, 14% of unaffected relatives, and 10% of control subjects. The prevalence of hemodynamically significant mitral regurgitation (grade 2 or 3) was 13%, 4%, and 3%, respectively. Prevalences of grade 2 or 3 aort ic regurgitation (8%, 4%, and 3%, respectively) and tricuspid regurgitation (4%, 6%, and 7%, respectively) were not significantly different among the three groups. Left ventricular hypertrophy (LVH) was found in 19% of subjec ts with PKD1, 6% of unaffected relatives, and 4% of control subjects. Systo lic blood pressure and severity of renal insufficiency were related to mitr al regurgitation and LVH in subjects with PKD1. The prevalence of cardiac v alve abnormalities did not differ between unaffected relatives and control subjects. Mitral valve prolapse is a characteristic finding in patients wit h PKD1. Conversely, mitral regurgitation and LVH are likely to be secondary to elevated blood pressure in these patients. (C) 2001 by the National Kid ney Foundation, Inc.