Loeys-Dietz syndrome: Case report and review of the literature

David F. Malyuk, Norbert Campeau, John C. Benson

Research output: Contribution to journalArticlepeer-review


Loeyz-Dietz syndrome (LDS) is a genetic connective tissue disorder characterized by various clinical manifestations, most notably vasculopathies and skeletal abnormalities. The disease is rare, and has multiple overlapping features with other connective tissue disorders. As such, many radiologists remain unfamiliar with the imaging and clinical findings in LDS. Here, we describe the case of a 14-year-old male without previous diagnosis of LDS who presented with aortic root aneurysm and acute type A aortic dissection. Further workup revealed numerous abnormalities, including marked tortuosity of the cervical arterial system, a bifid uvula, hypertelorism, and a superior mesenteric artery aneurysm. Genetic testing ultimately revealed a mutation in Transforming Growth Factor Beta Receptor 1.

Original languageEnglish (US)
Pages (from-to)767-770
Number of pages4
JournalRadiology Case Reports
Issue number3
StatePublished - Mar 2022


  • Aortic aneurysm
  • Arterial tortuosity
  • Bifid uvula
  • Dissection
  • Loeys-Dietz syndrome

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging


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