title: Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.
abstract: Cardiovascular abnormalities, especially structural congenital heart defects, commonly occur in malformation syndromes and genetic disorders. Individuals with syndromes comprise a significant proportion of those affected with selected congenital heart defects such as complete atrioventricular canal, interrupted arch type B, supravalvar aortic stenosis, and pulmonary stenosis. As these individuals age, they contribute to the growing population of adults with special health care needs. Although most will require longterm cardiology follow-up, primary care providers, geneticists, and other specialists should be aware of (1) the type and frequency of cardiovascular abnormalities, (2) the range of clinical outcomes, and (3) guidelines for prospective management and treatment of potential complications. This article reviews fundamental genetic, cardiac, medical, and reproductive issues associated with common genetic syndromes that are frequently associated with a cardiovascular abnormality. New data are also provided about the cardiac status of adults with a 22q11.2 deletion and with Down syndrome.
authors.affiliation: Genetics Unit, Department of Pediatrics, MassGeneral Hospital for Children, Boston, Massachusetts 02114, USA. Lin.angela@mgh.harvard.edu
authors.forename: Angela E
authors.initials: AE
authors.lastname: Lin
authors.forename: Craig T
authors.initials: CT
authors.lastname: Basson
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Goldmuntz
authors.forename: Pilar L
authors.initials: PL
authors.lastname: Magoulas
authors.forename: Deborah A
authors.initials: DA
authors.lastname: McDermott
authors.forename: Donna M
authors.initials: DM
authors.lastname: McDonald-McGinn
authors.forename: Elspeth
authors.initials: E
authors.lastname: McPherson
authors.forename: Colleen A
authors.initials: CA
authors.lastname: Morris
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Noonan
authors.forename: Catherine
authors.initials: C
authors.lastname: Nowak
authors.forename: Mary Ella
authors.initials: ME
authors.lastname: Pierpont
authors.forename: Reed E
authors.initials: RE
authors.lastname: Pyeritz
authors.forename: Alan F
authors.initials: AF
authors.lastname: Rope
authors.forename: Elaine
authors.initials: E
authors.lastname: Zackai
authors.forename: Barbara R
authors.initials: BR
authors.lastname: Pober
mesh_terms: D000328:Adult; D018376:Cardiovascular Abnormalities / Q000235:genetics* / Q000473:pathology / Q000628:therapy*; D002869:Chromosome Aberrations; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004314:Down Syndrome / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D030342:Genetic Diseases, Inborn / Q000235:genetics; D006801:Humans; D008297:Male; D011247:Pregnancy; D012098:Reproduction / Q000235:genetics; D013577:Syndrome