Document Detail

Cardiovascular abnormalities, interventions, and long-term outcomes in infantile Williams syndrome.
MedLine Citation:
PMID:  19846117     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To determine the prevalence of cardiovascular abnormalities (CVA) and outcomes in patients with Williams syndrome presenting before 1 year of age. STUDY DESIGN: A retrospective review was undertaken of consecutive patients with WS at our institution from January 1, 1980, through December 31, 2007. WS was diagnosed by an experienced medical geneticist and/or by fluorescence in situ hybridization. CVA were diagnosed with the use of echocardiography, cardiac catheterization, or computerized tomographic angiography. Freedom from intervention was determined using Kaplan-Meier analysis. RESULTS: The study group was 129 patients with CVA. Age at presentation was 127 +/- 116 days, with follow-up of 8.0 +/- 7.5 years (0 to 42 years). The most common lesions were peripheral pulmonary artery stenosis (62%) and supravalvar aortic stenosis (57%). Other CVA were common. CV interventions were performed in 29%, with 58% of those before 1 year. Freedom from intervention was 85%, 73%, and 66% at 1, 5, and 25 years, respectively. Four patients died. CONCLUSIONS: CVA are the most common manifestations of infantile Williams syndrome and occur with greater frequency than previously reported. In those with CVA, interventions are common and usually occur by 5 years of age. Most of these patients do not require intervention on long-term follow-up, and overall mortality is low.
R Thomas Collins; Paige Kaplan; Grant W Somes; Jonathan J Rome
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Publication Detail:
Type:  Journal Article     Date:  2009-10-21
Journal Detail:
Title:  The Journal of pediatrics     Volume:  156     ISSN:  1097-6833     ISO Abbreviation:  J. Pediatr.     Publication Date:  2010 Feb 
Date Detail:
Created Date:  2010-01-28     Completed Date:  2010-02-23     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0375410     Medline TA:  J Pediatr     Country:  United States    
Other Details:
Languages:  eng     Pagination:  253-8.e1     Citation Subset:  AIM; IM    
Copyright Information:
Copyright 2010 Mosby, Inc. All rights reserved.
The Cardiac Center, The Children's Hospital of Philadelphia, 8th Floor, Main Building, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA.
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MeSH Terms
Angioplasty, Balloon
Aortic Stenosis, Supravalvular / epidemiology,  surgery
Cardiovascular Abnormalities / epidemiology*,  surgery,  therapy*
Infant, Newborn
Kaplan-Meiers Estimate
Proportional Hazards Models
Pulmonary Artery / abnormalities,  surgery
Retrospective Studies
Treatment Outcome
United States / epidemiology
Williams Syndrome / epidemiology*,  surgery,  therapy*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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