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Published on: February 9, 2016
Long-term cardiovascular outcome of Williams syndrome
Seul Gi Cha1, Mi Kyung Song1, Sang Yun Lee1
1Department of Pediatrics, Seoul National University Children's Hospital, Seoul, South Korea.
Insights
In Williams syndrome, severe supravalvular aortic stenosis often worsens, while most branch pulmonary stenoses improve spontaneously. Many patients with branch pulmonary stenosis do not require intervention, and surgical outcomes are favorable.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Cardiovascular lesions are a primary cause of illness and death in Williams syndrome patients.
- Conventional understanding of the natural progression of cardiovascular anomalies in Williams syndrome is being challenged by recent research.
Purpose of the Study:
- To investigate the long-term outcomes of cardiovascular lesions in Williams syndrome.
- To analyze changes in obstructive cardiovascular lesions over time and intervention-free survival.
Main Methods:
- Retrospective study involving 80 Williams syndrome patients with over 5 years of follow-up.
- Data collected on cardiovascular lesion progression, intervention needs, and outcomes.
Main Results:
- Supravalvular aortic stenosis (SVAS) was the most frequent lesion (87.5%), with severe cases worsening over time.
- Branch pulmonary stenosis (BPS) showed improvement, with peak velocities decreasing significantly, and severe BPS cases also improved.
- 27.5% of patients required interventions, primarily for SVAS or mitral valve prolapse; interventions for BPS were rarely needed.
Conclusions:
- Severe SVAS in Williams syndrome tends to progress, necessitating intervention based on severity and age.
- BPS, including severe cases, often resolves spontaneously, with minimal need for intervention.
- Surgical interventions for cardiovascular abnormalities in Williams syndrome yield positive results.
Objective:
Cardiovascular lesions are the leading cause of morbidity and mortality in patients with Williams syndrome. Recent studies have rebutted conventional reports about the natural course of cardiovascular anomalies in Williams syndrome.
Design:
Retrospective study.
Setting:
Single tertiary center.
Patients:
Eighty patients with Williams syndrome followed up for more than 5 years.
Interventions:
Not applicable.
Outcome Measures:
Long-term outcome of cardiovascular lesions, peak velocity change in obstructive cardiovascular lesions over time, post-interventional courses of disease-specific intervention, and intervention-free survival of obstructive cardiovascular lesions.
Results:
The median follow-up duration was 11.0 (5.1-28.3) years. Among 80 patients, supravalvular aortic stenosis (87.5%) was the most common cardiovascular lesion, followed by branch pulmonary stenosis (53.8%), mitral valve prolapse (22.5%), and aortic arch hypoplasia/coarctation (5.0%). During the follow-up period, the peak flow velocity of supravalvular aortic stenosis did not change on peak Doppler echocardiography. Initially, severe supravalvular aortic stenosis was aggravated (P < .027). Conversely, the peak velocity of branch pulmonary stenosis decreased (from 3.08 to 1.65 m/s; P < .001) within age 3.2 (0.4-6.9) years. Even the group with severe branch PS improved over time. Twenty-two patients (27.5%) with Williams syndrome underwent disease-specific interventions without mortality, mostly for supravalvular aortic stenosis or mitral valve prolapse. No patient in the late-onset and initially mild supravalvular aortic stenosis group needed intervention and 37.5%, 48.4%, and 65.1% in initially moderate and severe supravalvular aortic stenosis groups needed intervention at age 5, 10, and 20 years, respectively. Unlike the conventional therapeutic concept, the intervention for branch pulmonary stenosis was almost unnecessary.
Conclusions:
In Williams syndrome, initially severe supravalvular aortic stenosis worsened over time and most branch pulmonary stenoses, including those in the severe group, improved spontaneously. Most patients with branch pulmonary stenosis did not require disease-specific intervention. Surgical repairs for cardiovascular abnormalities in Williams syndrome showed favorable results.
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