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Marfan syndrome and aortic involvement: a narrative review

R G Carbone1, A Monselise, F Puppo

  • 1Department of Internal Medicine, University of Genoa, Genoa, Italy. magister1@mail.com.

European Review for Medical and Pharmacological Sciences
|September 26, 2023
PubMed

Insights

Marfan syndrome (MFS) significantly impacts cardiovascular health, leading to aortic complications like dissection and aneurysms. Early diagnosis and specialized care are crucial for managing MFS aortic disease and improving patient outcomes.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Connective Tissue Diseases

Background:

  • Marfan syndrome (MFS) is a systemic connective tissue disorder primarily affecting the ocular, skeletal, and cardiovascular systems.
  • Aortic complications, including dissection and aneurysms, are major causes of morbidity and mortality in MFS patients.
  • Current guidelines recommend specific imaging techniques for aortic diameter measurement in MFS.

Approach:

  • This narrative review synthesizes current knowledge on aortic involvement in Marfan syndrome.
  • It covers pathophysiology, diagnosis, prevention, and medical/surgical management strategies.
  • The review also discusses the role of genetics and proteomics in understanding MFS pathogenesis.

Key Points:

  • Thoracic aortic aneurysms and aortic root enlargement are critical concerns in MFS.
  • Accurate aortic diameter measurement using CT, MRI, or echocardiography is essential.
  • Multidisciplinary centers and advanced research are vital for better MFS prognosis.

Conclusions:

  • Effective management of MFS aortic disease requires a comprehensive approach.
  • Specialized centers and ongoing research into MFS pathogenesis are key to improving patient outcomes.
  • Understanding the genetic and proteomic underpinnings of MFS can lead to enhanced therapeutic strategies.

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