{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T04:36:57Z","timestamp":1790743017816,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":3932,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The diagnostic criteria of the Williams\u2010Beuren syndrome (WBS) were established almost 3 decades ago. Until now there has been little knowledge about the natural and post\u2010surgical history of vascular lesions in this syndrome. In order to evaluate the long term follow\u2010up of aortic and pulmonary vascular lesions, we have analysed the catheterization data, angiocardiograms, and Doppler\u2010echo measurements in 59 patients who were seen at least twice in our institution between 1961 and 1993. Their follow\u2010up periods ranged from 2.1 to 28.2 years. Of 45 patients with supravalvular aortic stenosis (SVAS) with a mean follow\u2010up period of 12.9 years, it became evident that pressure gradients of less than 20 mm Hg in infancy generally remained unchanged during the first two decades of life. Pressure gradients exceeding 20 mm Hg increased from an average of 35.5 mm Hg to 52.7 mm Hg in 13 patients. Of these, 8 required surgical relief of the narrowing. In 7 patients aortic hypoplasia was documented. In 5 of them the caliber of the aorta showed a tendency towards normalisation within a period of 11.9 to 23.9 years. Of 6 individuals with aortic hypoplasia and surgical relief of SVAS, 4 patients developed restenosis at the distal end of the aortoplasty patch. In contrast, 9 patients with operated SVAS\u2014but without aortic hypoplasia\u2014remained free of restenosis over a period of 11 years (mean). Coarctation occurred in 4\/59 patients; restenosis was seen in 2 after 5 and 16 years. Peripheral pulmonary stenosis was followed in 23 patients over 14.4 years (mean). During this period the systolic pressure gradients fell from 23 to 9.3 mm Hg (mean). In adolescence and adulthood the gradients were below 20 mm Hg in 22\/23 individuals.<\/jats:p>\n                  <jats:p>In WBS there is a good long\u2010term prognosis for SVAS if gradients during infancy are low. SVAS with gradients above 20 mm Hg tend to increase; 60% of them require surgical relief with good long\u2010term results. But aortic hypoplasia impairs the prognosis of operated SVAS, because restenosis may occur. Peripheral pulmonary stenosis generally shows a good long\u2010term prognosis. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320520309","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T13:17:14Z","timestamp":1118495834000},"page":"297-301","source":"Crossref","is-referenced-by-count":119,"title":["Three decades of follow\u2010up of aortic and pulmonary vascular lesions in the Williams\u2010Beuren syndrome"],"prefix":"10.1002","volume":"52","author":[{"given":"A.","family":"Wessel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Pankau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Kececioglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.","family":"Ruschewski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. H.","family":"B\u00fcrsch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1542\/peds.61.2.303","article-title":"The Williams elfin facies syndrome: The psychological profile as an aid in syndrome identification","volume":"61","author":"Bennett C","year":"1978","journal-title":"Pediatrics"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.26.6.1235"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9149(64)90154-7"},{"key":"e_1_2_1_5_1","first-page":"457","article-title":"Vitamin D\u2010hypercalc\u00e4mische Herz\u2010 und Gef\u00e4sserkrankung","volume":"114","author":"Beuren AJ","year":"1966","journal-title":"Monatsschr Kinderheilkd"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(63)90553-1"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.5.389"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.71.6.1162"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(85)80297-3"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370622"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1964.tb07792.x"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.8.3226"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.63.7.809"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02279886"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80356-8"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440605"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-8703(87)90803-9"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.59.7.605"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(88)80272-5"},{"key":"e_1_2_1_20_1","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1542\/peds.80.1.85","article-title":"Williams syndrome: Features in late childhood and adolescence","volume":"180","author":"Pagon RA","year":"1987","journal-title":"Pediatrics"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01959084"},{"key":"e_1_2_1_22_1","first-page":"53","article-title":"Facies de Williams\u2010Beuren avec retard mental et tetralogie de Fallot","volume":"39","author":"Pernot C","year":"1984","journal-title":"Pediatrie"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb02011.x"},{"key":"e_1_2_1_24_1","first-page":"357","article-title":"Hemodynamic results of surgery for congenital supravalvular aortic stenosis","volume":"26","author":"de Vivie ER","year":"1978","journal-title":"Thoraxchirurgie"},{"key":"e_1_2_1_25_1","first-page":"54","article-title":"Langzeitverlauf vaskul\u00e4rer Anomalien und Hypertonus beim Williams\u2010Beuren\u2010Syndrom","volume":"82","author":"Wessel A","year":"1993","journal-title":"Z Kardiol (Abstr)"},{"key":"e_1_2_1_26_1","first-page":"131","article-title":"Spektrum der supravalvul\u00e4ren Aortenstenose: Untersuchungsergebisse bei 150 Patienten mit Williams\u2010Beuren\u2010Syndrom und der isolierten Form der supravalvul\u00e4ren Aortenstenose","volume":"69","author":"Wesselh\u00f6ft H","year":"1980","journal-title":"Z Kardiol"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.24.6.1311"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02310569"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320520309","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320520309","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T01:54:34Z","timestamp":1698112474000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320520309"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,9]]},"references-count":27,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1994,9]]}},"alternative-id":["10.1002\/ajmg.1320520309"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320520309","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,9]]}}}