Four new cases of pediatric thoracic aortic aneurysm (TAA) with review of the molecular genetic basis, utilizing the newly published consensus nomenclature

Cardiovasc Pathol. 2017 Nov-Dec:31:34-40. doi: 10.1016/j.carpath.2017.07.005. Epub 2017 Jul 27.

Abstract

The majority of thoracic aortic aneurysms (TAA) in the pediatric population are due to post repair etiology (iatrogenic). Although rare, underlying inheritable disease and congenital cardiac anomalies represent the most common non-iatrogenic cause of TAA among patients in this age group (1-21 years of age). Herein, we present a case series of 9aortic aneurysms with varying underlying etiology. We discuss the molecular genetic basis of these syndromes in conjunction with the radiological findings and histological description utilizing the newly published consensus criteria article.

Keywords: Cutis laxa; Molecular genetic basis; Thoracic aortic aneurysm.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Aortic Aneurysm, Thoracic / genetics*
  • Aortic Coarctation / complications
  • Cutis Laxa / complications
  • Eye Abnormalities / complications
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Loeys-Dietz Syndrome / complications
  • Neurocutaneous Syndromes / complications
  • Terminology as Topic

Supplementary concepts

  • Aortic Aneurysm, Familial Thoracic 1
  • PHACE association