Cardiovascular Abnormalities in Osteogenesis Imperfecta.

THE GROUP of diseases characterized by McKusick as generalized "heritable disorders of connective tissue" includes the Marfan syndrome, the Ehlers-Danlos syndrome, osteogenesis imperfecta, the Hurler syndrome, and pseudoxanthoma elasticum. With the exception of osteogenesis imperfecta, all of these have been known to involve significant cardiovascular abnormalities.' The Marfan syndrome is frequently associated with dilatation of the aortic root,2 sacculation or stretching of aortic cusps, and dissection of the aorta.1 3-6 There have also been reports of fenestrations of aortic Cusps,6 7 aneurysms of the sinus of Valsalva,8 9 dilatation and rupture of the pulmonary artery,5 6, 8-10 mitral stenosis,6 mitral insufficiency,' 11 12 and mitral valve fenestration."1 Associated congenital lesions have included atrial septal defect,6' 13 patent ductus arteriosus,5' 9, 10 and coarctation of the aorta.5-7 The Ehlers-Danlos syndrome has been associated with dissection of the aorta,1 aneurysm of a sinus of Valsalva,14 atrial septal defect,15 partial AV canal defect,'6 tetralogy of Fallot,17 and mitral and tricuspid insufficiency.18 Heart disease is commonly present in the Hurler syndrome'12 19 and is the cause of death in the majority of cases. Valvular deformities represent the most common form of pathology in these patients,19 the aortic and mitral valves being most frequently involved.19-21 Both endocardial and myocardial lesions are observed,19' 20 and severe coronary disease is often present.'2' 19 21 Cardiovascular involvement in pseudoxanthoma elasticum is generally confined to the arterial network.' Claudication