Congenital cardiovascular disease in Turner syndrome.
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.
Bondy
Carolyn A
CA
National Institute of Child Health and Human Development, National Institutes of Health-Developmental Endocrinology Branch, Bethesda, MD 20892, USA. bondyc@mail.nih.gov
D000293:Adolescent; D000328:Adult; D000784:Aortic Dissection / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D001014:Aortic Aneurysm / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D001019:Aortic Rupture / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D001341:Autonomic Nervous System / Q000503:physiopathology; D049628:Body Size / Q000235:genetics; D003324:Coronary Artery Disease / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D004108:Dilatation, Pathologic; D005260:Female; D047109:Fetal Development / Q000235:genetics; D020022:Genetic Predisposition to Disease; D018392:Genomic Imprinting; D013006:Growth Hormone / Q000009:adverse effects; D006329:Heart Conduction System / Q000503:physiopathology; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D006801:Humans; D008134:Long-Term Care; D008875:Middle Aged; D017410:Practice Guidelines as Topic; D011247:Pregnancy; D012307:Risk Factors; D014424:Turner Syndrome / Q000150:complications* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology / Q000628:therapy; D054079:Vascular Malformations / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy
D013006:Growth Hormone