Journal Basic Info
- Impact Factor: 1.995**
- H-Index: 8
- ISSN: 2474-1647
- DOI: 10.25107/2474-1647
Major Scope
- Breast Surgery
- Surgical Oncology
- Gynecological Surgery
- Neurological Surgery
- Urology
- Transplant Surgery
- General Surgery
- Thoracic 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
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.