Loeys-Dietz syndrome: a primer for diagnosis and management

Genet Med. 2014 Aug;16(8):576-87. doi: 10.1038/gim.2014.11. Epub 2014 Feb 27.


Loeys-Dietz syndrome is a connective tissue disorder predisposing individuals to aortic and arterial aneurysms. Presenting with a wide spectrum of multisystem involvement, medical management for some individuals is complex. This review of literature and expert opinion aims to provide medical guidelines for care of individuals with Loeys-Dietz syndrome.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Humans
  • Loeys-Dietz Syndrome / diagnosis*
  • Loeys-Dietz Syndrome / pathology
  • Loeys-Dietz Syndrome / physiopathology
  • Loeys-Dietz Syndrome / therapy*
  • Practice Guidelines as Topic