@Article{chd.12810,
AUTHOR = {Seul Gi Cha, Mi Kyung Song, Sang Yun Lee, Gi Beom Kim, Jae Gun Kwak, Woong Han Kim, Eun Jung Bae},
TITLE = {Long‐term cardiovascular outcome of Williams syndrome},
JOURNAL = {Structural and Congenital Heart Disease},
VOLUME = {14},
YEAR = {2019},
NUMBER = {5},
PAGES = {684--690},
URL = {http://www.techscience.com/schd/v14n5/38847},
ISSN = {3071-1738},
ABSTRACT = {<b>Objective:</b> 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.<br/>
<b>Design:</b> Retrospective study.<br/>
<b>Setting:</b> Single tertiary center.<br/>
<b>Patients:</b> Eighty patients with Williams syndrome followed up for more than 5 years.<br/>
<b>Interventions:</b> Not applicable.<br/>
<b>Outcome Measures:</b> 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 cardio‐
vascular lesions.<br/>
<b>Results:</b> The median follow‐up duration was 11.0 (5.1‐28.3) years. Among 80 pa‐
tients, 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 echo‐
cardiography. 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 under‐
went disease‐specific interventions without mortality, mostly for supravalvular aortic 
stenosis or mitral valve prolapse. No patient in the late‐onset and initially mild sup‐
ravalvular aortic stenosis group needed intervention and 37.5%, 48.4%, and 65.1% 
in initially moderate and severe supravalvular aortic stenosis groups needed inter‐
vention at age 5, 10, and 20 years, respectively. Unlike the conventional therapeutic 
concept, the intervention for branch pulmonary stenosis was almost unnecessary.<br/>
<b>Conclusions:</b> 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 ste‐
nosis did not require disease‐specific intervention. Surgical repairs for cardiovascular 
abnormalities in Williams syndrome showed favorable results.},
DOI = {10.1111/chd.12810}
}