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The Genetics of Aortopathies in Clinical Cardiology

Amit Goyal1, Ali R Keramati2, Matthew J Czarny2

  • 1Department of Medicine, School of Medicine, Johns Hopkins University, Baltimore, MD, USA.

Clinical Medicine Insights. Cardiology
|June 14, 2017
PubMed

Insights

Heritable aortopathies, including Marfan syndrome, are genetic disorders causing early death. Next-generation sequencing advances understanding of their causes and guides new treatments.

Area of Science:

  • Cardiovascular Genetics
  • Medical Genetics
  • Molecular Pathophysiology

Background:

  • Aortopathies represent a significant health concern, characterized by high mortality rates, rising incidence, and frequent underdiagnosis.
  • Genetic factors are increasingly recognized as primary drivers of many aortopathies, necessitating a deeper understanding of their molecular basis.
  • Effective management strategies rely on early diagnosis, continuous surveillance, and proactive interventions.

Purpose of the Study:

  • To review the current understanding of pathogenetic mechanisms in heritable genetic aortopathies.
  • To summarize the latest management strategies for these complex conditions.
  • To highlight the role of genetic discoveries in identifying therapeutic targets.

Main Methods:

  • Comprehensive literature review focusing on genetic aortopathies.
  • Analysis of recent advancements in next-generation sequencing (NGS) applications.
  • Synthesis of data on syndromic and nonsyndromic forms of heritable aortopathies.

Main Results:

  • NGS has significantly expanded the identification of genetic variants underlying heritable aortopathies.
  • Clarification of molecular pathophysiology provides insights into disease progression.
  • Identification of specific disorders such as Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, and familial thoracic aortic aneurysm and dissection.

Conclusions:

  • Genetic insights are crucial for diagnosing and managing heritable aortopathies.
  • Early detection, surveillance, and prophylactic repair are essential for improving patient outcomes.
  • Ongoing research into molecular mechanisms promises novel therapeutic avenues for these life-threatening conditions.

Keywords:
Loeys-Dietz syndromeMarfan syndromeThoracic aortic aneurysmfamilial thoracic aortic aneurysm and dissectiongenetic aortopathyvascular Ehlers-Danlos syndrome

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