Nonsyndromic Genetic Predisposition to Aortic Dissection: A Newly Recognized, Diagnosable, and Preventable Occurrence in Families

Sumera N. Hasham, Matthew R. Lewin, Van T. Tran, Hariyadarshi Pannu, Ann Muilenburg, Marcia Willing, Dianna M. Milewicz

Research output: Contribution to journalArticle

25 Scopus citations

Abstract

The major diseases affecting the aorta are aortic aneurysms and dissections, with patients with acute dissections often presenting in the emergency department (ED). Recent studies demonstrate a strong genetic predisposition to thoracic aortic aneurysms and dissections, independent of syndromes traditionally considered to predispose to aortic disease (such as Marfan syndrome). Nonsyndromic familial thoracic aortic aneurysms and dissections are inherited in families as an autosomal dominant disorder and a variable age of onset of the aortic disease. The case reported here illustrates the critical importance of obtaining a family history of thoracic aortic aneurysms and dissections, along with unexplained sudden death, when assessing an individual with chest pain in the ED, regardless of age and in the absence of a known genetic syndrome.

Original languageEnglish
Pages (from-to)79-82
Number of pages4
JournalAnnals of emergency medicine
Volume43
Issue number1
DOIs
StatePublished - Jan 2004
Externally publishedYes

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