| Title | Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management. | | Author(s) | Lin AE, Basson CT, Goldmuntz E, Magoulas PL, McDermott DA, McDonald-McGinn DM, McPherson E, Morris CA, Noonan J, Nowak C, Pierpont ME, Pyeritz RE, Rope AF, Zackai E, Pober BR | | Institution | From the 1Genetics Unit, MassGeneral Hospital for Children, Department of Pediatrics, Boston, Massachusetts; 2Center for Molecular Cardiology, Greenberg Division of Cardiology, Weill Medical College of Cornell University, New York; 3Division of Cardiology, The Children’s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania;4Baylor College of Medicine, Houston, Texas; 5Human Genetics and Molecular Biology, The Children’s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania; 6Department of Medical Genetics, Marshfield Clinic, Marshfield, Wisconsin; 7Genetics Division, Department of Pediatrics, University of Nevada School of Medicine, Las Vegas, Nevada; 8Department of Cardiology, University of Kentucky, Lexington, Kentucky; 9National Birth Defects Center, Waltham, Massachusetts; 10Department of Genetics and Cardiology, Children’s Hospital of Minnesota and University of Minnesota, Minneapolis/St. Paul, Minnesota; 11Departments of Medicine and Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania; 12Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah; and 13Department of Surgery, The Children’s Hospital, Boston, Massachusetts. | | Source | Genet Med 2008 Jun 18. | | 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. | | Language | ENG | | Pub Type(s) | JOURNAL ARTICLE
| | PubMed ID | 18580689 |
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