Cardiovascular Abnormalities, Interventions, and Long-term Outcomes in Infantile Williams Syndrome

• Published in: The Journal of pediatrics Vol. 156; no. 2; pp. 253 - 258.e1
• Main Authors: Collins, R. Thomas, MD, Kaplan, Paige, MBBCh, Somes, Grant W., PhD, Rome, Jonathan J., MD
• Format: Journal Article
• Language: English
• Published: Maryland Heights, MO Mosby, Inc 01-02-2010; Elsevier
• Subjects: Angioplasty, Balloon; Aortic Stenosis, Supravalvular - epidemiology; Aortic Stenosis, Supravalvular - surgery; Biological and medical sciences; Cardiovascular Abnormalities - epidemiology; Cardiovascular Abnormalities - surgery; Cardiovascular Abnormalities - therapy; Female; General aspects; Humans; Infant; Infant, Newborn; Kaplan-Meier Estimate; Male; Medical sciences; Pediatrics; Prevalence; Prognosis; Proportional Hazards Models; Pulmonary Artery - abnormalities; Pulmonary Artery - surgery; Retrospective Studies; Stents; Treatment Outcome; United States - epidemiology; Williams Syndrome - epidemiology; Williams Syndrome - surgery; Williams Syndrome - therapy; United States; SVPS; Ventricular septal defect; VSD; Pulmonary arterial stenosis; CBI; Cardiovascular abnormalities; CVA; Williams syndrome; PPS; SVAS; CoA; Supravalvar pulmonary stenosis; Supravalvar aortic stenosis; Catheter-based interventions; WS; Coarctation of the aorta; Chromosomal aberration; Human; Pediatrics; Evolution; Infant; Anomaly; Circulatory system; Child; Long term
• ISSN: 0022-3476; 1097-6833
• DOI: 10.1016/j.jpeds.2009.08.042

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.