European Journal of Pediatrics

, Volume 173, Issue 3, pp 387–391 | Cite as

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

  • Teck Wah Ting
  • Angeline Hwei Meeng Lai
  • Jonathan Tze Liang Choo
  • Teng Hong Tan
Original Article


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.


Loeys–Dietz syndrome Aortic root aneurysm Transforming growth factor beta Connective tissue disease 



Loeys–Dietz syndrome


Marfan syndrome


Patent ductus arteriosus


Transforming growth factor


Conflict of interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Teck Wah Ting
    • 1
  • Angeline Hwei Meeng Lai
    • 1
  • Jonathan Tze Liang Choo
    • 2
  • Teng Hong Tan
    • 2
  1. 1.Genetics Service, Department of Paediatric MedicineKK Women’s and Children’s HospitalSingaporeSingapore
  2. 2.Cardiology Service, Department of Paediatric SubspecialtiesKK Women’s and Children’s HospitalSingaporeSingapore

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