Korean Circulation Journal

The Korean Society of Cardiology (대한심장학회)
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A Case of Near Total Aortic Replacement in an Adolescent With Loeys-Dietz Syndrome

  • Suh, Yoon-Jung (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Kwon, Hye-Won (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Kim, Gi-Beom (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Kwon, Bo-Sang (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Bae, Eun-Jung (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Noh, Chung-Il (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Choi, Jung-Yun (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Kim, Kyung-Hwan (Department of Thoracic and Cardiovascular Surgery Seoul National University Children's Hospital) ;
  • Kim, Yong-Jin (Department of Thoracic and Cardiovascular Surgery Seoul National University Children's Hospital) ;
  • Park, Sung-Sup (Department of Laboratory Medicine, Seoul National University Children's Hospital)
  • Published : 2012.04.30
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Abstract

Loeys-Dietz syndrome is a recently described autosomal dominant disorder caused by mutations in the genes for transforming growth factor-beta receptor type 1 or 2 (TGF-${\beta}R$ 1/2). The syndrome predisposes patients to aortic aneurysm and dissections, along with craniofacial and musculoskeletal abnormalities. Here we report the case of an adolescent who underwent serial near total aortic replacement, from the aortic valve to the descending aorta. Loeys-Dietz syndrome was confirmed in this case by the detection of a mutation in the TGF-${\beta}R$ 2 gene.

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References

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  1. Valve Sparing Aortic Root Replacement in Children with Loeys-Dietz Syndrome vol.48, pp.4, 2015, https://doi.org/10.5090/kjtcs.2015.48.4.272
  2. Cardiovascular Manifestations and Complications of Loeys-Dietz Syndrome: CT and MR Imaging Findings vol.38, pp.1, 2012, https://doi.org/10.1148/rg.2018170120
  3. Loeys-Dietz syndrome pathology and aspects of cardiovascular management: A systematic review vol.29, pp.1, 2012, https://doi.org/10.1177/1708538120934582