Total Aortic Replacement for a 9-Year-Old Boy With Loeys-Dietz Syndrome

Ann Thorac Surg. 2016 Mar;101(3):1185-8. doi: 10.1016/j.athoracsur.2015.05.071.

Abstract

Loeys-Dietz syndrome (LDS) is a recently identified rare connective tissue disorder caused by mutations of the transforming growth factor-β receptors and first described in 2005. It is an autosomal dominant syndrome with 2 different phenotypic expressions-LDS I and II. LDS is characterized by the triad of arterial tortuosity and aneurysm, hypertelorism, and a bifid uvula or cleft palate. We present a case of a 9-year-old boy diagnosed with LDS who underwent urgent thoracoabdominal aortic aneurysm repair followed by total arch replacement and aortic valve-sparing root replacement (AVSRR).

Publication types

  • Case Reports
  • Review

MeSH terms

  • Aortic Aneurysm, Thoracic / diagnostic imaging*
  • Aortic Aneurysm, Thoracic / etiology
  • Aortic Aneurysm, Thoracic / surgery*
  • Aortic Dissection / diagnostic imaging
  • Aortic Dissection / surgery*
  • Aortography / methods
  • Blood Vessel Prosthesis
  • Blood Vessel Prosthesis Implantation / methods*
  • Cardiopulmonary Bypass / methods
  • Child
  • Follow-Up Studies
  • Humans
  • Imaging, Three-Dimensional*
  • Loeys-Dietz Syndrome / complications
  • Loeys-Dietz Syndrome / diagnosis
  • Loeys-Dietz Syndrome / diagnostic imaging*
  • Loeys-Dietz Syndrome / etiology
  • Loeys-Dietz Syndrome / surgery*
  • Male
  • Rare Diseases
  • Risk Assessment
  • Thoracotomy / methods
  • Tomography, X-Ray Computed / methods
  • Treatment Outcome

Supplementary concepts

  • Aortic aneurysm, familial thoracic 3