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Published on: May 19, 2020
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Mitral valve prolapse and Marfan syndrome
1Department of Cardiac Surgery, Leeds General Infirmary, Great George Street, Leeds, United KIngdom.
Congenital Heart Disease
|June 6, 2017
Summary
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.
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