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A systematic review supporting the Society for Vascular Surgery guidelines on the management of heritable

Mohammed Firwana1, Bashar Hasan1, Samer Saadi1

  • 1Evidence-Based Practice Center, Mayo Clinic, Rochester, MN; Robert D. and Patricia E. Kern Center for the Science of Health Care Delivery, Mayo Clinic, Rochester, MN.

Journal of Vascular Surgery
|June 16, 2023
PubMed

Insights

Genetic testing is valuable for patients with aortic aneurysms and dissections, identifying hereditary aortopathies. Thoracic endovascular aortic repair shows promise for young patients with these conditions, though long-term data is limited.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Vascular Surgery

Background:

  • Systematic review commissioned by the Society for Vascular Surgery to inform clinical practice guidelines for genetic aortopathies and arteriopathies.
  • Focus on evaluating and managing patients with these complex vascular conditions.

Approach:

  • Comprehensive search of multiple databases for relevant studies.
  • Systematic review and appraisal of 12 included studies by independent reviewers.
  • Identified gaps in evidence regarding long-term outcomes and specific patient populations.

Key Points:

  • Limited studies on long-term outcomes of endovascular repair for heritable aortopathy and aortic events in pregnant patients.
  • Case series showed high survival and intervention-free survival post-endograft repair for type B aortic dissection.
  • Genetic diagnosis in 36% of patients without risk factors for hereditary aortopathies, associated with increased mortality.
  • Racial disparities noted in aortic dissection repair outcomes, with higher reintervention rates in Black patients.

Conclusions:

  • High survival observed with thoracic endovascular aortic repair for type B aortic dissection in young patients with heritable aortopathies, despite limited long-term follow-up.
  • Genetic testing demonstrates high yield in patients with acute aortic aneurysms and dissections.
  • Genetic testing positive in most patients with risk factors and over one-third of others, linked to future aortic events.
Abstract

Keywords:
Aortic dissectionsGenetically triggered thoracic aortic diseaseHeritable thoracic aortic diseaseMarfan syndromeSystematic reviewThoracic aortic aneurysmsType B aortic dissection

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