Cardiovascular abnormalities, interventions, and long-term outcomes in infantile Williams syndrome.
OBJECTIVE
To determine the prevalence of cardiovascular abnormalities (CVA) and outcomes in patients with Williams syndrome presenting before 1 year of age.


METHODS
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.
The Cardiac Center, The Children's Hospital of Philadelphia, 8th Floor, Main Building, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA. collinsr@email.chop.edu
R Thomas
RT
Collins
Paige
P
Kaplan
Grant W
GW
Somes
Jonathan J
JJ
Rome
D000800:Angioplasty, Balloon; D021921:Aortic Stenosis, Supravalvular / Q000453:epidemiology / Q000601:surgery; D018376:Cardiovascular Abnormalities / Q000453:epidemiology* / Q000601:surgery / Q000628:therapy*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D053208:Kaplan-Meier Estimate; D008297:Male; D015995:Prevalence; D011379:Prognosis; D016016:Proportional Hazards Models; D011651:Pulmonary Artery / Q000002:abnormalities / Q000601:surgery; D012189:Retrospective Studies; D015607:Stents; D016896:Treatment Outcome; D014481:United States / Q000453:epidemiology; D018980:Williams Syndrome / Q000453:epidemiology* / Q000601:surgery / Q000628:therapy*