Journal Basic Info

  • Impact Factor: 1.995**
  • H-Index: 8
  • ISSN: 2474-1647
  • DOI: 10.25107/2474-1647
**Impact Factor calculated based on Google Scholar Citations. Please contact us for any more details.

Major Scope

  •  Surgical Oncology
  •  Gastroenterological Surgery
  •  Ophthalmic Surgery
  •  Minimally Invasive Surgery
  •  Transplant Surgery
  •  Bariatric Surgery
  •  Orthopaedic Surgery
  •  Oral and Maxillofacial Surgery

Abstract

Citation: Clin Surg. 2016;1(1):1060.Case Report | Open Access

Aortic Emergency in Loeys-Dietz Syndrome: Clinical Findings and Molecular Characterization in a Child

Li Y, Chang Q, Qian X, Sun X and Luo M

Department of Cardiovascular Surgery, National Center for Cardiovascular Diseases and Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, China

*Correspondance to: Yan Li 

 PDF  Full Text DOI: 10.25107/2474-1647.1060

Abstract

Loeys-Dietz syndrome, a rare autosomal dominant disorder showing the involvement of cutaneous, cardiovascular, craniofacial, and skeletal systems, presents early in life with rapidly progressive aortic aneurysmal disease. Aortic emergency in young children is an extremely rare occurrence. We present clinical findings and molecular characterization of a 5-year-old Loeys-Dietz syndrome patient whose diagnosis was missed and consequently underwent urgent aortic repair due to aortic rupture. Pediatricians and surgeons should be educated about this rare disorder, to ensure early proper diagnoses resulting in a timely and efficient management strategy before emergence of aortic rupture.

Keywords

Cite the article

Li Y, Chang Q, Qian X, Sun X, Luo M. Aortic Emergency in Loeys-Dietz Syndrome: Clinical Findings and Molecular Characterization in a Child. Clin Surg. 2016; 1: 1060.

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