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

摘要

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).