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Loeys–Dietz syndrome in a Southeast Asian Hospital: a case series

Authors
  • Ting, Teck Wah1
  • Lai, Angeline Hwei Meeng1
  • Choo, Jonathan Tze Liang2
  • Tan, Teng Hong2
  • 1 KK Women’s and Children’s Hospital, Genetics Service, Department of Paediatric Medicine, 100 Bukit Timah Road, Singapore, 229899, Singapore , Singapore (Singapore)
  • 2 KK Women’s and Children’s Hospital, Cardiology Service, Department of Paediatric Subspecialties, 100 Bukit Timah Road, Singapore, 229899, Singapore , Singapore (Singapore)
Type
Published Article
Journal
European Journal of Pediatrics
Publisher
Springer-Verlag
Publication Date
Oct 22, 2013
Volume
173
Issue
3
Pages
387–391
Identifiers
DOI: 10.1007/s00431-013-2187-0
Source
Springer Nature
Keywords
License
Yellow

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. Conclusion: We describe two novel mutations in TGFBR2 leading to LDS; PDA is common in our patients and can be safely occluded via transcatheter procedure.

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