PATHOPHYSIOLOGY AND NATURAL HISTORY AORTIC REGURGITATION Cardiovascular involvement in osteogenesis

ABSTRACT While aortic root dilatation and valvular dysfunction have been well-documented in osteogenesis imperfecta (01), the nature and extent of cardiovascular involvement in 01 have not been clearly delineated. A clinical and echocardiographic survey involving 109 individuals with various nonlethal 01 syndromes from 66 separate families was undertaken. Clinically discernible valvular dysfunction was encountered in only four of the 109 individuals (aortic regurgitation in two, aortic stenosis in one, and mitral valve prolapse in one), none of whom were related. Aortic root dilatation was recognized echocardiographically in eight (12.1%) of 66 individuals comprising a subset of the sample in which each family was represented by a single individual. The extent of the aortic root dilatation was mild (the largest dimension measuring 4.3 cm) and was unrelated to the age of the individual. Dilatation was seen in each of the different 01 syndromes but was strikingly segregated within certain families (p <.001). In the same subset of 66 individuals, mitral valve prolapse was encountered in two or 6.9 % of the 29 individuals aged 15 years or greater in whom adequate studies were obtained. This observed frequency was not different from that seen in a normal adult population. Aortic root dilatation appears to represent a distinct phenotypic trait in patients with 01 that is nonprogressive and occurs in about 12 % of affected individuals. Whether mitral valve prolapse shoul