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Marfan syndrome: current perspectives.

Guglielmina Pepe1, Betti Giusti1, Elena Sticchi1

  • 1Department of Experimental and Clinical Medicine, Section of Critical Medical Care and Medical Specialities, DENOTHE Center, University of Florence, Florence, Italy; Cardiothoracovascular Department, Marfan Syndrome and Related Disorders Regional Referral Center, Careggi Hospital, Florence, Italy.

The Application of Clinical Genetics
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PubMed
Summary
This summary is machine-generated.

Marfan syndrome (MFS) is a genetic connective tissue disorder. Beta-receptor blockers are the gold standard treatment for thoracic aortic aneurysm and/or dissection (TAAD) in MFS patients, while losartan shows limited efficacy.

Keywords:
Marfan syndromecardiovascular manifestationsdiagnosisfibrillin 1therapythoracic aortic aneurysm

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Area of Science:

  • Genetics and Molecular Biology
  • Cardiovascular Medicine
  • Pharmacology

Background:

  • Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by FBN1 gene mutations.
  • Cardiovascular manifestations, particularly thoracic aortic aneurysm and/or dissection (TAAD), are a major cause of morbidity and mortality in MFS.
  • Understanding MFS progression and identifying effective therapies for TAAD are critical.

Purpose of the Study:

  • To review the clinical manifestations, cardiovascular complications, and therapeutic strategies for Marfan syndrome.
  • To analyze the efficacy of losartan and beta-receptor blockers in managing TAAD in MFS patients.
  • To explore potential biomarkers for predicting TAAD progression in Marfan syndrome.

Main Methods:

  • Review of existing literature on Marfan syndrome, focusing on cardiovascular aspects and treatments.
  • Analysis of findings from the COMPARE clinical trial investigating losartan in MFS patients.
  • Examination of a 3-year French trial comparing losartan and beta-receptor blockers in MFS.

Main Results:

  • Losartan demonstrated a reduction in aortic dilatation rate in MFS patients, particularly those with FBN1 quantitative mutations.
  • Beta-receptor blockers remain the established gold standard therapy for TAAD in Marfan syndrome.
  • Losartan decreased blood pressure but did not significantly impact aortic diameter progression when used with beta-blockers.

Conclusions:

  • Beta-receptor blockers are the current gold standard for managing thoracic aortic aneurysm and/or dissection in Marfan syndrome.
  • Losartan may offer benefits for specific MFS patient subgroups but does not replace standard therapy.
  • Further research into biomarkers like homocysteine, TGF-beta, lysyl oxidase, and oxidative stress markers is warranted for clinical severity prediction.