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Congenit Heart Dis. 2008 Jan-Feb;3(1):2-15. doi: 10.1111/j.1747-0803.2007.00163.x.

Congenital cardiovascular disease in Turner syndrome.

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National Institute of Child Health and Human Development, National Institutes of Health-Developmental Endocrinology Branch, Bethesda, MD 20892, USA.


Turner syndrome (TS), or monosomy X, occurs in approximately 1/2000 live born females. Intelligence is normal and short stature is the most obvious and consistent feature of the syndrome. Congenital cardiovascular disease affects approximately 50% of individuals and is the major cause of premature mortality in adults. Unfortunately, this most important aspect of the syndrome has received little attention outside of pediatric medicine, and adult cardiological follow-up is seriously lacking. This review describes the spectrum of cardiovascular defects with particular attention to identifying risk factors for aortic dissection/rupture. X-chromosome genetic pathways implicated in Turner cardiovascular disease, including premature coronary artery disease, are discussed. Recent guidelines for diagnosis and treatment of girls and women with TS are reviewed.

[Indexed for MEDLINE]

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