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

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.