Pediatria pre prax 5/2015

During childhood unrecognized congenital heart defect in patient with Turner syndrome, and its implications

Congenital heart disease affects approximately 50 % of individuals with Turner syndrome (TS). Bicuspid aortic valve, aortic coarctation, ascending aorta dilatation and arterial hypertension are important risk factors for life-threatening aortic dissection or rupture. Authors discuss the importance of a careful cardiac examination including cardiac magnetic resonance imaging study and life-long follow-up by experienced cardiologist in TS patients, and point out high maternal mortality and morbidity during pregnancy. They present a case report of woman with TS and the above-mentioned in childhood unrecognized congenital heart defects that underwent infertility treatment without preconceptional counselling focused on cardiovascular risk for aortic dissection.

Keywords: Turner syndrome, congenital heart defect, bicuspid aortic valve, aortic coarctation, aortic dissection, pregnancy.