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Published on: May 5, 2018
Cardiovascular abnormalities, interventions, and long-term outcomes in infantile Williams syndrome
R Thomas Collins1, Paige Kaplan, Grant W Somes
1The 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
Insights
Cardiovascular abnormalities are common in infants with Williams syndrome (WS). While many patients with WS require interventions by age 5, most do not need long-term treatment, and overall mortality is low.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Williams syndrome (WS) is a genetic disorder associated with cardiovascular abnormalities (CVA).
- Early identification and management of CVA in WS are crucial for patient outcomes.
Purpose of the Study:
- To determine the prevalence of CVA in infants with WS presenting before one year of age.
- To evaluate the long-term outcomes and intervention requirements for these patients.
Main Methods:
- Retrospective review of 129 patients diagnosed with WS.
- Diagnosis of CVA using echocardiography, cardiac catheterization, or CT angiography.
- Kaplan-Meier analysis to assess freedom from intervention.
Main Results:
- The most frequent CVA were peripheral pulmonary artery stenosis (62%) and supravalvar aortic stenosis (57%).
- Cardiovascular interventions were performed in 29% of patients, with 58% occurring before age 1.
- Freedom from intervention was 85% at 1 year, 73% at 5 years, and 66% at 25 years.
Conclusions:
- CVA are highly prevalent in infantile WS, occurring more frequently than previously reported.
- Interventions for CVA are common in early childhood but not typically required long-term.
- Overall mortality in patients with WS and CVA is low.
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.
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