[Cardiovascular manifestations of hereditary dysplasias of connective tissue]

The purpose of this study was to demonstrate the special features of cardiovascular effects in connective tissue disorders through a group of fifteen cases observed over a period of ten years. The group consisted of eleven cases of Marfan syndrome (or Marfan-like syndrome), two cases of pseudoxanthoma elasticum and two cases of Ehlers-Danlos disease. The cardiovascular lesions were as follows: 1) dissection of the ascending aorta which was confirmed and had been treated surgically in 2 cases; 2) aneurysmal dilatation of the ascending aorta in 5 cases; 3) moderate mitral valve prolapse, which was isolated in 2 other cases; 4) distention of the mitral valve in 2 cases; 5) mitral valve prolapse combined with tricuspid valve prolapse in 1 case; the mitral incompetence was severe and made it necessary to carry out mitral valve replacement; 6) moderate aortic valve prolapse combined with tricuspid prolapse in a case of type-I Ehlers-Danlos disease; 7) Fallot's tetralogy combined with Marfan's syndrome and treated surgically in one case; 8) severe hypertension with abnormalities of the iliac and renal arteries in one case of elastic pseudoxanthoma elasticum. In three cases complications occurred leading to death, extension of the dissection of the abdominal aorta and global recalcitrant heart failure respectively. The outcome in the other 12 cases, with a mean follow-up time of 3 and one half years (range: 3 years to 7 years) was not marked by complications.