Document Detail

Stenosis of the thoracic aorta in Williams syndrome.
MedLine Citation:
PMID:  20411252     Owner:  NLM     Status:  MEDLINE    
Williams syndrome (WS) is a multisystem congenital disorder affecting 1/8000 live births. Our objective was to review our experience with stenosis of the thoracic aorta (STA) in these patients. A retrospective review was undertaken of consecutive WS patients at The Children's Hospital of Philadelphia from January 1, 1980, through December 31, 2007. WS was diagnosed by an experienced medical geneticist and/or by fluorescence in situ hybridization. Stenosis was diagnosed with either echocardiography or cardiac catheterization. Freedom from intervention was determined using Kaplan-Meier analysis. From a total cohort of 270 patients, 37 (14%) patients with STA were identified and comprised the study group. Age at presentation was 2.1 + or - 4.0 years, and follow-up was 11.8 + or - 12.6 years (range 0-51). Long-segment STA was more common (89%) than discrete STA. Severity of STA was mild in 18, moderate in 10, and severe in 9 patients. Branch pulmonary artery stenosis was seen in 62% (23 of 37) of STA patients, and supravalvar aortic stenosis was seen in 54% (20 of 37) STA patients. Nine (24%) patients underwent intervention for STA: 8 cases were severe, and 1 case was moderate. Restenosis resulting in reintervention occurred in 5 of 9 (56%) patients, with 4 of 5 (80%) patients undergoing multiple reinterventions. Freedom from intervention was 89, 82, and 73% at 1, 5, and 20 years, respectively. One patient died. STA is common in WS and is generally the long-segment type. In patients with STA, interventions are common and usually occur by 5 years of age. Reintervention for STA occurs frequently.
R Thomas Collins; Paige Kaplan; Jonathan J Rome
Publication Detail:
Type:  Comparative Study; Journal Article     Date:  2010-04-22
Journal Detail:
Title:  Pediatric cardiology     Volume:  31     ISSN:  1432-1971     ISO Abbreviation:  Pediatr Cardiol     Publication Date:  2010 Aug 
Date Detail:
Created Date:  2010-07-27     Completed Date:  2010-11-09     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8003849     Medline TA:  Pediatr Cardiol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  829-33     Citation Subset:  IM    
Division of Cardiology, The Cardiac Center, The Children's Hospital of Philadelphia, 8th Floor, Main Building, 34th Street and Civic Center Blvd, Philadelphia, PA 19104, USA.
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MeSH Terms
Aorta, Thoracic*
Aortic Diseases / diagnosis,  epidemiology,  etiology*
Child, Preschool
Constriction, Pathologic
Follow-Up Studies
Heart Catheterization
Infant, Newborn
Pennsylvania / epidemiology
Retrospective Studies
Time Factors
Williams Syndrome / complications*,  diagnosis,  epidemiology
Young Adult

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

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