TY - JOUR
T1 - Adults with genetic syndromes and cardiovascular abnormalities
T2 - Clinical history and management
AU - Lin, Angela E.
AU - Basson, Craig T.
AU - Goldmuntz, Elizabeth
AU - Magoulas, Pilar L.
AU - McDermott, Deborah A.
AU - McDonald-McGinn, Donna M.
AU - McPherson, Elspeth
AU - Morris, Colleen A.
AU - Noonan, Jacqueline
AU - Nowak, Catherine
AU - Pierpont, Mary Ella
AU - Pyeritz, Reed E.
AU - Rope, Alan F.
AU - Zackai, Elaine
AU - Pober, Barbara R.
PY - 2008/7
Y1 - 2008/7
N2 - 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.
AB - 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.
KW - Congenital heart defect
KW - Deletion 22q11
KW - Down syndrome
KW - Marfan syndrome
KW - Noonan syndrome
KW - Turner syndrome
KW - Williams-Beuren syndrome
UR - http://www.scopus.com/inward/record.url?scp=52049116340&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=52049116340&partnerID=8YFLogxK
U2 - 10.1097/GIM.0b013e3181772111
DO - 10.1097/GIM.0b013e3181772111
M3 - Review article
C2 - 18580689
AN - SCOPUS:52049116340
SN - 1098-3600
VL - 10
SP - 469
EP - 494
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 7
ER -
