title: Cardiovascular abnormalities in Williams syndrome: 20 years'experience in Istanbul.
abstract: OBJECTIVE
  Williams syndrome (WS) is a microdeletion syndrome affecting cardiovascular and connective tissue as well as the endocrine and central nervous systems in 1 in 10,000 live births. This study aims to identify and evaluate cardiovascular abnormalities (CVAs) in 45 WS patients.
  
  
  METHODS
  We retrospectively reviewed a cohort of WS patients who were followed at our institution from January 1, 1990 through December 31, 2010. WS was clinically diagnosed by an experienced medical geneticist and confimed by fluorescence in situ hybridization. CVAs were assessed using electrocardiography, echocardiography or cardiac catheterization.
  
  
  RESULTS
  Twenty-seven patients (60%) were male; 18 were female (40%).The mean age at presentation was 4.6 +/- 3.1 years (3 months-13 years); the follow-up period was 6.9 +/- 4.4 years (6 months-18 years). CVAs were found in 86% of patients, the most common one being supravalvar aortic stenosis (SVAS) in 73% (isolated in 48%), peripheral pulmonary artery stenosis (PAS) in 42%, and mitral valve prolapse (MVP) in 22%. Less common were aortic insufficiency (15%), ventricular septal defect (11%), valvular pulmonary stenosis (11%), and aortic arch hypoplasia (8%) and coarctation (2%). Hypertension was present in 22% of patients. Surgical or catheter-based interventions were performed in 22% of cases. Two patients were lost in the postoperative period.
  
  
  CONCLUSIONS
  CVAs were found in more than four out of five patients, the most common ones being SVAS and PAS. Although surgery was performed in more patients with SVAS than with PAS, SVAS was minimal or mild in most patients and improved in few cases.
authors: Department of Pediatric Cardiology, Istanbul University, Istanbul Faculty of Medicine, Turkey.
authors: Yakup
authors: Y
authors: Ergul
authors: Kemal
authors: K
authors: Nisli
authors: Hulya
authors: H
authors: Kayserili
authors: Birsen
authors: B
authors: Karaman
authors: Seher
authors: S
authors: Basaran
authors: Bulent
authors: B
authors: Koca
authors: Umrah
authors: U
authors: Aydogan
authors: Rukiye Eker
authors: RE
authors: Omeroglu
authors: Aygun
authors: A
authors: Dindar
mesh_terms: D000293:Adolescent; D018376:Cardiovascular Abnormalities / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003935:Diagnostic Techniques, Cardiovascular; D005260:Female; D005500:Follow-Up Studies; D005821:Genetic Techniques; D006801:Humans; D015994:Incidence; D007223:Infant; D008297:Male; D012189:Retrospective Studies; D014421:Turkey / Q000453:epidemiology; D018980:Williams Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics