Cardiovascular abnormalities in osteogenesis imperfecta

To investigate the prevalence of cardiac abnormalities in osteogenesis imperfecta we performed a clinical and echocardiographic study on 20 patients. One patient had aortic regurgitation, 13 had soft late apical systolic murmurs (without significant mitral regurgitation), and seven had systemic hypertension. In only one patient was there echocardiographic evidence of mitral valve prolapse. The aortic root diameter exceeded the normal range in six patients, two of whom were hypertensive. The overall mean value (± 1 S.D.) in the 16 patients without marked skeletal deformity was 2.02 ± 0.33 cm/m2. The echocardiographic appearances suggested that the left-sided valve cusps were thin, and in 13 patients the aortic valve leaflets showed a coarse systolic flutter.