Monitoring of congenital heart disease (CHD) and aortic dilatation in Turner syndrome: Italian experience

Abstract

Subjects with X-monosomy are at high risk for cardiovascular diseases in particular CHD. Recent data reports an association with a generalized vasculopathy in particular aortic abnormalities such as dilatation and dissection. In fetal life there are typical signs of lymphatic obstruction that have been connected pathogenetically with CHD. In postnatal life characteristic dysmorphic signs, such as webbed neck, and karyotype distribution have to be considered risk factors for severe CHD and also for aortic dilatation (AoDil). We could evaluate this relationship in a large group of TS subjects enrolled in the study conducted by the Italian Study Group for Turner Syndrome (ISGTS). For the subjects with severe dysmorphic signs, the relative risk of CHD is higher than for the subjects with minor or moderate stigmata: in particular partial anomalous pulmonary vein drainage (PPAVD), coarctation of the aorta (COA) and also bicuspid aortic valve (BAV). The 45,X and Y-mosaicism subjects had a significantly higher prevalence of CHD (COA and PPAVD) than the other karyotype groups. AoDil has a higher prevalence than in the general population. In a series of 181 subjects followed-up in our clinic, we evaluated the prevalence and the follow-up of AoDil. High aortic dimensions indexed to body surface area were found in 24.1% of the subjects and in 37.8% of those with CHD. All the CHD involving the aorta increased the risk of AoDil: in particular 50% of subjects with COA had AoDil. AoDil was associated with a severe phenotype and 45.6% of subjects with severe stigmata had AoDil. In 49 of these subjects, without CHD echo and MRI were compared in the study of the aorta. At echocardiografic evaluation, a higher prevalence of indexed values above the upper normal limits was found than at MRI, in particular at ascending aorta. We think that the echo approach may cause some distortion in the image of the thoracic aorta in these subjects. In conclusion: TS should receive a complete cardiac evaluation and follow-up for CHD and also without CHD for aortic dilation, and blood pressure. A severe phenotype has to be considered a risk factor for CHD and AoDil. We emphasize the importance of MRI to detect better aortic dilation in all the patients between 15 and 20 years of age.