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Minerva Endocrinologica 2007 December;32(4):245-61

language: English

Heart disease in Turner Syndrome

Bondy C. A.

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


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Turner syndrome (TS) is a relatively common disorder of female development caused by loss of all or part of one sex chromosome. Because short stature and premature ovarian failure are cardinal features of the syndrome, pediatric endocrinologists have taken the lead in care for these girls. Congenital cardiovascular disease affects ~50% of individuals and is the major cause of premature mortality in adults. Unfortu-nately, teenage girls are often lost to follow up after discharge from pediatric clinic. This review describes the spectrum of cardiovascular defects in TS with emphasis on identifying patients at risk for aortic dissection/rupture. Updated consensus guidelines for cardiac screening and care are reviewed and genetic pathways implicated in Turner cardiovascular disease, including premature coronary artery disease, are discussed. This material is of particular importance because cardiac care for adults with TS appears seriously deficient at present.

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