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Related Concept Videos

Aneurysm I: Introduction01:30

Aneurysm I: Introduction

An aortic aneurysm is a localized outpouching or dilation at a weak point in the artery wall. It may involve different parts of the aorta, such as the abdominal aorta, aortic arch, or thoracic aorta.Etiological factorsSeveral disorders are associated with aortic aneurysms.Congenital causes, such as primary connective tissue disorders like Marfan syndrome, impact the integrity and strength of connective tissues, notably affecting the aorta. Marfan syndrome is a genetic disorder that specifically...
Cystic Fibrosis: Pathogenesis01:23

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Mitral Stenosis I: Introduction01:22

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Mitral Stenosis III: Medical Management01:26

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Related Experiment Video

Updated: May 23, 2026

Biological Preparation and Mechanical Technique for Determining Viscoelastic Properties of Zonular Fibers
06:39

Biological Preparation and Mechanical Technique for Determining Viscoelastic Properties of Zonular Fibers

Published on: December 16, 2021

[Recent progress in Marfan syndrome].

C Stheneur1, C Laffond, S Rioux

  • 1Service de pédiatrie, hôpital Ambroise-Paré, AP-HP, 9, avenue Charles-de-Gaulle, 92100 Boulogne, France. chantal.stheneur@apr.aphp.fr

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|March 24, 2012
PubMed
Summary
This summary is machine-generated.

Marfan syndrome knowledge has advanced, but diagnosis can be challenging, especially in children. Current treatments focus on prevention and management, with ongoing research for new therapies.

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Last Updated: May 23, 2026

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Area of Science:

  • Genetics
  • Cardiology
  • Clinical Medicine

Context:

  • Marfan syndrome diagnosis and management have evolved significantly over two decades.
  • A 2010 classification improved diagnostic accessibility but challenges remain, particularly in pediatric cases due to variable expression and age-related sign progression.

Purpose:

  • To review the progress in clinical, genetic, and therapeutic understanding of Marfan syndrome.
  • To highlight diagnostic challenges, genetic testing considerations, and current therapeutic strategies.

Summary:

  • Despite advances, diagnosing Marfan syndrome, especially in early childhood, is complicated by its variable presentation and evolving symptoms.
  • FBN1 gene mutation analysis is reserved for high-suspicion cases due to cost and complexity.
  • Preventive therapeutics include patient education, activity modification, beta-blockers, regular echocardiography, and surgical aortic repair.

Impact:

  • Improved understanding aids in earlier diagnosis and more effective management of Marfan syndrome.
  • Focus on comprehensive patient care, addressing genetic, aesthetic, and psychological aspects, enhances quality of life.
  • Ongoing research into novel treatments holds promise for future therapeutic advancements.