The Genetics of Aortopathies in Clinical Cardiology

Amit Goyal, Ali R. Keramati, Matthew J. Czarny, Jon R. Resar, Arya Mani

Research output: Contribution to journalReview articlepeer-review

Abstract

Aortopathies pose a significant healthcare burden due to excess early mortality, increasing incidence, and underdiagnosis. Understanding the underlying genetic causes, early diagnosis, timely surveillance, prophylactic repair, and family screening are keys to addressing these diseases. Next-generation sequencing continues to expand our understanding of the genetic causes of heritable aortopathies, rapidly clarifying their underlying molecular pathophysiology and suggesting new potential therapeutic targets. This review will summarize the pathogenetic mechanisms and management of heritable genetic aortopathies with attention to specific forms of both syndromic and nonsyndromic disorders, including Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, and familial thoracic aortic aneurysm and dissection.

Original languageEnglish (US)
JournalClinical Medicine Insights: Cardiology
Volume11
DOIs
StatePublished - May 24 2017

Keywords

  • Loeys-Dietz syndrome
  • Marfan syndrome
  • Thoracic aortic aneurysm
  • familial thoracic aortic aneurysm and dissection
  • genetic aortopathy
  • vascular Ehlers-Danlos syndrome

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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