Aortic regurgitation and aneurysm of sinus of Valsalva associated with osteogenesis imperfecta

A case of osteogenesis imperfecta with aortic regurgitation is described. The patient is the first whose aortic root abnormalities accounting for the aortic regurgitation were characterized by cardiac catheterization and angiography. The patient had a dilated aortic valve ring and an aneurysm of the sinus of Valsalva. The similarity of these findings to the cardiovascular abnormalities found in other types of connective tissue disorders is discussed and a common cause is suggested.