| Cardiovascular findings in duplication 17p11.2 syndrome. | |
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MedLine Citation:
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PMID: 22237436 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Purpose:Cardiovascular abnormalities are newly recognized features of duplication 17p11.2 syndrome. In a single-center study, we evaluated subjects with duplication 17p11.2 syndrome for cardiovascular abnormalities.Methods:Twenty-five subjects with 17p11.2 duplication identified by chromosome analysis and/or array-based comparative genomic hybridization were enrolled in a multidisciplinary protocol. In our clinical evaluation of these subjects, we performed physical examinations, echocardiography, and electrocardiography. Three of these subjects were followed up longitudinally at our institution.Results:Cardiovascular anomalies, including structural and conduction abnormalities, were identified in 10 of 25 (40%) of subjects with duplication 17p11.2 syndrome. The most frequent abnormality was dilated aortic root (20% of total cohort). Bicommissural aortic valve (2/25), atrial (3/25) and ventricular (2/25) septal defects, and patent foramen ovale (4/25) were also observed.Conclusion:Duplication 17p11.2 syndrome is associated with structural heart disease, aortopathy, and electrocardiographic abnormalities. Individuals with duplication 17p11.2 syndrome should be evaluated by electrocardiography and echocardiography at the time of diagnosis and monitored for cardiovascular disease over time. Further clinical investigation including longitudinal analysis would likely determine the age of onset and characterize the progression (if any) of vasculopathy in subjects with duplication 17p11.2 syndrome, so that specific guidelines can be established for cardiovascular management.Genet Med 2012:14(1):90-94. |
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Authors:
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John L Jefferies; Ricardo H Pignatelli; Hugo R Martinez; Patricia J Robbins-Furman; Pengfei Liu; Wenli Gu; James R Lupski; Lorraine Potocki |
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Publication Detail:
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Type: Journal Article Date: 2011-10-17 |
Journal Detail:
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Title: Genetics in medicine : official journal of the American College of Medical Genetics Volume: 14 ISSN: 1530-0366 ISO Abbreviation: Genet. Med. Publication Date: 2012 Jan |
Date Detail:
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Created Date: 2012-01-12 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9815831 Medline TA: Genet Med Country: United States |
Other Details:
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Languages: eng Pagination: 90-4 Citation Subset: IM |
Affiliation:
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1] Section of Pediatric Cardiology, Texas Children's Hospital, Houston, Texas, USA [2] Division of Adult Cardiovascular Diseases, Texas Heart Institute at St. Luke's Episcopal Hospital, Houston, Texas, USA. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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