{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T04:33:04Z","timestamp":1791261184906,"version":"4.1.0"},"reference-count":23,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2002,8]]},"abstract":"<jats:p>\n                    <jats:bold>Objective:<\/jats:bold>\n                    The prevalence and types of various cardiovascular diseases in different age groups as well as the outcomes of cardiac surgery and other interventions were assessed in a population of 75 Williams syndrome (WS) patients aged 4 months to 76 years (median 22.7 years).\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Study design:<\/jats:bold>\n                    The diagnosis of WS was in each case confirmed by the clinical phenotype and by a FISH test showing elastin hemizygosity. Clinical and operative data were collected from all hospitals where the patients had been treated.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Results:<\/jats:bold>\n                    Cardiovascular symptoms were evident in 35 of 75 (47%) WS children at birth. During follow up, 44 of 75 (53%) WS patients were found to have cardiovascular defects. Among them, the definitive diagnosis was made before 1 year of age in 23 (52%) infants, between 1 year and 15 years of age in 14 (32%) children, and older than 15 years of age in 7 (16%) adults. Multiple obstructive cardiovascular diseases were found in six infants. Supravalvular aortic stenosis (SVAS) was diagnosed in 32\/44 (73%), pulmonary arterial stenosis (PAS) in 18\/44 (41%), aortic or mitral valve defect in 5\/44 (11 %) of cases, and tetralogy of Fallot in one (2%) case. Altogether, 17\/44 (39 %) underwent surgery or intervention. Surgery was most frequently performed in the infant group (6%\n                    <jats:italic>v<\/jats:italic>\n                    21%\n                    <jats:italic>v<\/jats:italic>\n                    0%, p=0.004). After 1 year of age, seven patients underwent SVAS relief and two cases PAS relief. Postoperatively there was no mortality (median follow up time 6.9 years). Arterial hypertension was found in 55% of adults. In three adults, arterial vasculopathy was not diagnosed until necropsy.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Conclusions:<\/jats:bold>\n                    Our data indicate the following in WS. Cardiac symptoms are common in neonates. Heart disease diagnosed in infancy frequently requires operation. After 1 year of age, PAS tends to improve and SVAS to progress. Life long cardiac follow up is necessary because of the risks of developing vasculopathy or arterial hypertension.\n                  <\/jats:p>","DOI":"10.1136\/jmg.39.8.554","type":"journal-article","created":{"date-parts":[[2002,10,1]],"date-time":"2002-10-01T15:54:10Z","timestamp":1033487650000},"page":"554-558","source":"Crossref","is-referenced-by-count":182,"title":["Cardiovascular manifestations in 75 patients with Williams 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