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

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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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Article 02 September 2021

Dianna M. Milewicz, Alan C. Braverman, … Reed E. Pyeritz

Abbreviations

LDS:

Loeys–Dietz syndrome

MFS:

Marfan syndrome

PDA:

Patent ductus arteriosus

TGF:

Transforming growth factor

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Conflict of interest

The authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Genetics Service, Department of Paediatric Medicine, KK Women’s and Children’s Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore

    Teck Wah Ting & Angeline Hwei Meeng Lai

  2. Cardiology Service, Department of Paediatric Subspecialties, KK Women’s and Children’s Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore

    Jonathan Tze Liang Choo & Teng Hong Tan

Authors
  1. Teck Wah Ting
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  2. Angeline Hwei Meeng Lai
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  3. Jonathan Tze Liang Choo
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  4. Teng Hong Tan
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Correspondence to Teck Wah Ting.

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Ting, T.W., Lai, A.H.M., Choo, J.T.L. et al. Loeys–Dietz syndrome in a Southeast Asian Hospital: a case series. Eur J Pediatr 173, 387–391 (2014). https://doi.org/10.1007/s00431-013-2187-0

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  • DOI: https://doi.org/10.1007/s00431-013-2187-0

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