title: Loeys-Dietz syndrome in a Southeast Asian Hospital: a case series.
abstract: Loeys-Dietz syndrome (LDS) is a heritable connective tissue disease in which the activity of the transforming growth factor (TGF) beta signalling pathway is disrupted. The clinical features of LDS represent a clinical continuum that includes LDS type 1, with cutaneous, vascular, skeletal and craniofacial findings, and LDS type 2, with cutaneous, vascular and skeletal findings. We describe five Asian patients with genetically confirmed LDS with mutations in either the TGFBR1 or TGFBR2 gene. Their clinical features were similar to those reported in Caucasian patients. Two patients have novel mutations in TGFBR2. Transcatheter occlusion of patent ductus arteriosus (PDA) was safe and successful in three patients. Treatment with Losartan for aortic root dilatation was well tolerated in our patients, but the outcome is mixed. Among the three patients with follow-up data, aortic root dilatation has improved in two patients but continues to progress in the third patient despite treatment.
  
  
  CONCLUSIONS
  We describe two novel mutations in TGFBR2 leading to LDS; PDA is common in our patients and can be safely occluded via transcatheter procedure.
authors.affiliation: Genetics Service, Department of Paediatric Medicine, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore, ting.teck.wah@kkh.com.sg.
authors.forename: Teck Wah
authors.initials: TW
authors.lastname: Ting
authors.forename: Angeline Hwei Meeng
authors.initials: AH
authors.lastname: Lai
authors.forename: Jonathan Tze Liang
authors.initials: JT
authors.lastname: Choo
authors.forename: Teng Hong
authors.initials: TH
authors.lastname: Tan
mesh_terms: D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004374:Ductus Arteriosus, Patent / Q000175:diagnosis / Q000453:epidemiology; D005260:Female; D006801:Humans; D055947:Loeys-Dietz Syndrome / Q000235:genetics* / Q000601:surgery; D008297:Male; D009154:Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D000077293:Receptor, Transforming Growth Factor-beta Type I; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D012189:Retrospective Studies
chemical_list: D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077293:Receptor, Transforming Growth Factor-beta Type I; D000077294:Receptor, Transforming Growth Factor-beta Type II; C000625841:TGFBR1 protein, human