Cardiovascular Abnormalities, Interventions, and Long-term Outcomes in Infantile Williams Syndrome - 07/03/14
, Paige Kaplan, MBBCh b, c, Grant W. Somes, PhD d, Jonathan J. Rome, MD a, c
Reprints not available. Correspondence to Dr R. Thomas Collins, II, The Cardiac Center, The Children’s Hospital of Philadelphia, 8th Floor, Main Building, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104.Abstract |
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.
Le texte complet de cet article est disponible en PDF.Mots-clés : CVA, CBI, CoA, PPS, SVAS, SVPS, VSD, WS
Plan
| The authors declare no conflicts of interest. |
Vol 156 - N° 2
P. 253 - février 2010 Retour au numéro
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