Key result
In Williams syndrome, severe supravalvular aortic stenosis deteriorated (p=0.021), while branch pulmonary stenosis improved with peak pressure gradient decreasing from 38.4 to 25.3 mmHg (p=0.001).
Why the study?
Conventional beliefs that supravalvular aortic stenosis improves rather than worsens in Williams syndrome have recently been challenged.
Observational (n=30)
No
In patients with Williams syndrome, severe supravalvular aortic stenosis worsens over time, while branch pulmonary stenosis improves spontaneously without intervention.
Supports expectant management of branch pulmonary stenosis in Williams syndrome; leaves open optimal supravalvular aortic stenosis intervention timing.
Williams syndrome (WS) is a rare genetic disorder caused by the microdeletion of chromosome 7q11.23. Cardiovascular defects (CVDs) are the leading causes of morbidity and mortality in patients with WS. The most common CVD in patients with WS is supravalvular aortic stenosis (SVAS), which recovers spontaneously similar to branch pulmonary stenosis (PS). Recently, conventional beliefs, such as SVAS improving rather than worsening in WS, have been challenged. This study thoroughly reviews the medical records of 30 patients with a molecular diagnosis of WS. We followed up these patients at Taipei MacKay Memorial Hospital from January 1999 to December 2021. The long-term outcomes of cardiovascular lesions as well as the change in peak pressure gradient in obstructive cardiovascular lesions over time were studied. Among these 30 patients, the most common cardiovascular lesion was SVAS (50.0%), followed by branch PS (36.7%). During the follow-up period, severe SVAS was aggravated (p = 0.021). The peak pressure gradient decreased from 38.4 to 25.3 mmHg (p = 0.001) in patients with branch PS. Among patients with WS, those with severe SVAS deteriorated over time, whereas those with branch PS improved on their own. In patients with WS who presented with branch PS, no disease-specific intervention was needed.
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Lee et al. (2022) conducted an observational in Williams syndrome (n=30). Williams syndrome was evaluated on Long-term outcomes of cardiovascular lesions and change in peak pressure gradient over time. In Williams syndrome, severe supravalvular aortic stenosis deteriorated (p=0.021), while branch pulmonary stenosis improved with peak pressure gradient decreasing from 38.4 to 25.3 mmHg (p=0.001).
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