Good Long-Term Outcomes With Cardiovascular Abnormalities and Williams Syndrome
Last Updated: 2010-02-23 16:15:24 -0400 (Reuters Health)
NEW YORK (Reuters Health) - Most patients with Williams syndrome do not require intervention for cardiovascular abnormalities, and their risk for premature mortality is low, according to a report online in the February 8th American Journal of Cardiology.
The lead author, Dr. R. Thomas Collins II from Children's Hospital of Philadelphia, told Reuters Health by email, "Based on our research, we can tell families the likelihood that their child with Williams will need an intervention on certain lesions and what sort of timeline that will include. A child with mild supravalvular aortic stenosis is highly unlikely to ever need an intervention on that lesion."
In their study of 270 patients with Williams syndrome, Dr. Collins and his colleagues found that 221 (82%) had cardiovascular abnormalities. The most common defects were supravalvular aortic stenosis (121 patients, 45%), peripheral pulmonary stenosis (99, 37%), aortic coarctation (37, 14%), arterial stenosis (37, 14%), and supravalvular pulmonary stenosis (31, 11%).
Follow-up averaged roughly 9 years but ranged as high as 57 years.
Among patients with supravalvular aortic stenosis, 16 (13%) showed spontaneous improvement in the severity grade during follow-up, and 12 (16%) of the 77 with mild stenosis had complete resolution. Only 12 patients (10%) had progressively more severe supravalvular aortic stenosis during follow-up.
"The prevailing dogma, based on a few papers with very small numbers, was that supravalvular aortic stenosis 'always' progresses," Dr. Collins said. "Based on our data, that is not only not always the case; in fact we found that lesions of that severity actually improve more often than they progress, and that unless the patient presented in the first year of life, they never went on to need an intervention for that mild supravalvular aortic stenosis."
Results were similar for peripheral pulmonary stenosis, with 37 (37%) showing spontaneous improvement. Of the 62 patients with mild disease, 25 (40%) had complete resolution. Only 2 patients with moderate peripheral pulmonary stenosis progressed to severe stenosis.
Fifty-six patients required surgical and/or catheter-based interventions, but most (43/56, 77%) were done before the patients were 5 years old. Nearly a third (16/56, 29%) had multiple interventions.
Three adults and 5 children patients died during the study follow-up.
"Patients with Williams syndrome have intrinsic structural abnormalities of the vasculature, namely a deficiency of elastin," Dr. Collins noted. "This deficiency results in these patients having an intrinsic arteriopathy, which in fact contributes to the majority of the cardiovascular findings in Williams."
Dr. Collins intends to use magnetic resonance imaging to evaluate arterial stiffness in patients with Williams syndrome. "Longitudinal study...using
Am J Cardiol 2010.
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