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Updated: Mar 1, 2026

An Image Guided Transapical Mitral Valve Leaflet Puncture Model of Controlled Volume Overload from Mitral Regurgitation in the Rat
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Mitral valve prolapse and Marfan syndrome

Amitabh Thacoor1

  • 1Department of Cardiac Surgery, Leeds General Infirmary, Great George Street, Leeds, United KIngdom.

Congenital Heart Disease
|June 6, 2017
PubMed

Insights

Marfan syndrome, a connective tissue disorder, often leads to cardiovascular issues. This review focuses on mitral valve prolapse (MVP) in Marfan syndrome, exploring its pathophysiology, diagnosis, and management.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Connective Tissue Disorders

Background:

  • Marfan syndrome is a genetic disorder impacting connective tissue, significantly affecting life expectancy due to cardiovascular complications.
  • While aortic dissection and valve incompetence are well-documented, mitral valve prolapse (MVP) in Marfan syndrome is less understood.
  • Understanding MVP is crucial for comprehensive Marfan syndrome patient care.

Purpose of the Study:

  • To review the current literature on the pathophysiology and diagnosis of mitral valve prolapse (MVP) in Marfan syndrome.
  • To define the established management strategies for MVP in this patient population.
  • To outline potential future research and clinical developments concerning MVP in Marfan syndrome.

Main Methods:

  • Systematic literature review of studies on Marfan syndrome and mitral valve prolapse.
  • Analysis of diagnostic criteria and imaging modalities for MVP in Marfan patients.
  • Synthesis of current treatment guidelines and emerging therapeutic approaches.

Main Results:

  • MVP is a frequent but under-recognized cardiac manifestation in Marfan syndrome.
  • Pathophysiology involves myxomatous degeneration of mitral valve leaflets due to FBN1 gene mutations.
  • Early diagnosis and tailored management are key to improving outcomes.

Conclusions:

  • Mitral valve prolapse requires greater attention in the clinical evaluation of Marfan syndrome patients.
  • Further research is needed to optimize diagnostic and therapeutic strategies for MVP in this population.
  • Improved understanding and management of MVP can enhance the quality of life and prognosis for individuals with Marfan syndrome.
Keywords:
Marfan syndromemitral valve prolapse

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