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Single gene disorders of the aortic wall

Marc K Halushka1

  • 1Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. mhalush1@jhmi.edu

Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology
|November 1, 2011
PubMed

Insights

Genetic aortic diseases, like Marfan syndrome, cause aortic root and ascending aorta issues. Early identification and understanding of these rare conditions are crucial for preventing dissection and death.

Area of Science:

  • Cardiovascular Genetics
  • Medical Genetics
  • Pathology

Background:

  • Genetic conditions frequently impact the aorta, leading to aortic root dilatation and potentially fatal dissection.
  • Aortic disease can be a symptom of broader syndromes with varied clinical presentations.
  • Over 15 genetic causes of ascending aortic disease exist in pediatric and young adult populations.

Purpose of the Study:

  • To review common genetic causes of aortic disease, focusing on five prevalent conditions.
  • To detail historical context, physical findings, cardiovascular complications, and genetic underpinnings.
  • To highlight current research directions for these rare diseases.

Main Methods:

  • Literature review of genetic aortic diseases.
  • Characterization of histopathology and clinical manifestations.
  • Focus on five common genetic conditions: Marfan syndrome, vascular Ehlers-Danlos syndrome, Loeys-Dietz syndrome, Turner syndrome, and familial thoracic aneurysm and dissection.

Main Results:

  • Five genetic conditions are relatively common and associated with known mutations.
  • These include Marfan syndrome, vascular Ehlers-Danlos syndrome, Loeys-Dietz syndrome, Turner syndrome, and familial thoracic aneurysm and dissection.
  • Understanding these diseases is vital for pathologists and clinicians.

Conclusions:

  • Genetic aortic diseases require thorough understanding due to their severe cardiovascular complications.
  • Familiarity with Marfan syndrome, VEDS, LDS, Turner syndrome, and FTA is essential for effective patient management.
  • Continued research is necessary to improve diagnosis and treatment strategies.

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