Cardiovascular abnormalities, interventions, and long-term outcomes in infantile Williams syndrome.
J Pediatr
; 156(2): 253-8.e1, 2010 Feb.
Article
en En
| MEDLINE
| ID: mdl-19846117
ABSTRACT
OBJECTIVE:
To determine the prevalence of cardiovascular abnormalities (CVA) and outcomes in patients with Williams syndrome presenting before 1 year of age. STUDYDESIGN:
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.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Anomalías Cardiovasculares
/
Síndrome de Williams
Tipo de estudio:
Observational_studies
/
Prevalence_studies
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Prognostic_studies
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Risk_factors_studies
Límite:
Female
/
Humans
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Infant
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Male
/
Newborn
País/Región como asunto:
America do norte
Idioma:
En
Revista:
J Pediatr
Año:
2010
Tipo del documento:
Article
País de afiliación:
Estados Unidos