Cardiac malformations and vascular complications of Turner's syndrome. A prospective study of 26 patients.

Turner's syndrome is associated with congenital heart disease in a third of cases. Several reports of aortic dilatation and of death by dissection or rupture of the aorta have been published. The authors undertook a prospecti ve study to assess the incidence of cardiac malformations and aortic dilata tion in gentically confirmed Turner's syndrome. Twenty-six out of 34 patients recalled (76%), aged 7 to 30 years (average 1 7 +/- 6 years) accepted their inclusion in this study and underwent clinica l examination, ECG, chest X-ray and echocardiography. Thirteen patients had a monosomy 45X and 13 a mosaic or structural abnormality. Six had a histor y of cardiovascular disease (operated coarctation : 2 cases, kinking : 2 ca ses, Hypertension : 2 cases). Eight patients (30%) had one or several anato mical cardiovascular abnormalities : bicuspid aortic valve (19.2%), abnorma lities of the aortic isthmus (kinking or coarctation) (15.4%), aortic regur gitation (7.7%), mitral stenosis (3.8%), partial anomalous venous drainage (3.8%), patent ductus arteriosus (3.8%) and left superior vena cava (11.5%) . Systematic evaluation of the aorta resulted in the diagnosis of dilatatio n of the ascending aorta in 1 case and dilatation of the sinus of Valsalva in 2 other cases. The authors conclude that echocardiographic evaluation is essential after t he diagnosis of Turner's syndrome. It should be repeated regularly to detec t dilatation of the aorta which carries the risk of serious complications, such as rupture or dissection of the aorta.