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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).3
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 …
Contributors Both authors have contributed in writing the manuscript and the revision.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Commissioned; internally peer reviewed.