BACKGROUND: Williams-Beuren syndrome is a multisystem developmental disorder
caused by a microdeletion at chromosome 7q11.23. In its classic form it includes
dysmorphic facial features, joint contractures, retardation of growth and mental
development, gregarious personality, visuospatial cognitive deficits,
hypercalcemia, primary or secondary hypertension and cardiovascular disorders.
AIM: Clinical diagnosis of Williams-Beuren syndrome can be a challenge in young
patients if none of the characteristic cardiovascular features, i.e.
supravalvular aortic stenosis or pulmonary artery stenosis, are present. Our aim
was to demonstrate the changes in cardiovascular lesions during the postnatal
development of Williams-Beuren patients and to follow all cardiovascular findings
beyond the most common ones. METHODS: The cardiovascular status of 29 patients
with Williams-Beuren syndrome (mean age 12.8 years) was recorded in correlation
with age. RESULTS: Cardiovascular diagnoses changed in the majority (72.4%) of
patients. Interestingly, 44.8% of the patients had periods with no reported
cardiovascular disease. Furthermore, 65.5% of the patients experienced periods
when none of the typical cardiovascular lesions, i.e. diffuse or localized
supravalvular aortic stenosis and/or pulmonary artery stenosis, were detected.
Spontaneous regression and progression of both supravalvular aortic stenosis and
pulmonary artery stenosis were observed. An unexpectedly high frequency (41%) of
mitral valve disorders was found. CONCLUSIONS: Our study showed that temporary
absence of and changes in cardiovascular findings are frequent in Williams-Beuren
syndrome. These results could contribute to the refinement of diagnostic criteria
and recommendations for cardiovascular follow-up of patients with this syndrome