TY - JOUR T1 - Turner syndrome and aortic complications: more benign than previously thought JF - Heart JO - Heart DO - 10.1136/heartjnl-2022-321330 SP - heartjnl-2022-321330 AU - Laura Galian-Gay AU - Jose F Rodriguez-Palomares Y1 - 2022/09/01 UR - http://heart.bmj.com/content/early/2022/08/31/heartjnl-2022-321330.abstract N2 - Turner syndrome (TS) occurs in 1 in 2500–3000 live female births1 and is characterised by the partial or complete loss of one of the X chromosomes. Physical findings often include congenital lymphedema, short stature, gonadal dysgenesis and congenital cardiovascular malformations like bicuspid aortic valve (BAV), aortic coarctation (CoA), elongation of the transverse aortic arch, partial anomalous pulmonary venous return, aberrant right subclavian artery, bovine aortic arch and left superior vena cava2 (figure 1). In fact, the highest penetrance of BAV in a genetic syndrome occurs in women with TS. BAV appears in >30% of patients and the prevalence of associated CoA, aortic aneurysms and acute aortic dissection exceeds that in sporadic BAV cases. Also, a high prevalence of endocrine disorders adds to the complexity, exacerbating cardiovascular prognosis. The main endocrine abnormalities associated with TS include growth hormone resistance or deficiency, oestrogen and androgen deficiency, diabetes, increased levels of liver enzymes (cirrhosis is five times more common) and autoimmune disorders (ie, thyroid autoimmune disease).3Figure 1 Summary of cardiovascular and endocrine abnormalities associated with Turner syndrome.Morbidity and mortality in women with TS has been found to be three times higher than in the general population,4 especially after age 45, and this is mainly associated with heart valve disease, hypertension, thromboembolism, myocardial infarction, stroke, significant aortic … ER -