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Published on: May 19, 2020
Mitral valve prolapse in Marfan syndrome: an old topic revisited
Cynthia C Taub1, Joan M Stoler, Teresa Perez-Sanz
1Cardiology Division, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA. ctaub05@yahoo.com
Background:
The echocardiographic features of mitral valve prolapse (MVP) in Marfan syndrome have been well described, and the incidence of MVP in Marfan syndrome is reported to be 40-80%. However, most of the original research was performed in the late 1980s and early 1990s, when the diagnostic criteria for MVP were less specific. Our goal was to investigate the characteristics of MVP associated with Marfan syndrome using currently accepted diagnostic criteria for MVP.
Methods:
Between January 1990 and March 2004, 90 patients with definitive diagnosis of Marfan syndrome (based on standardized criteria with or without genetic testing) were referred to Massachusetts General Hospital for transthoracic echocardiography. Patients' gender, age, weight, height, and body surface area at initial examination were recorded. Mitral valve thickness and motion, the degree of mitral regurgitation and aortic regurgitation, and aortic dimensions were quantified blinded to patients' clinical information.
Results:
There were 25 patients (28%) with MVP, among whom 80% had symmetrical bileaflet MVP. Patients with MVP had thicker mitral leaflets (5.0 +/- 1.0 mm vs. 1.8 +/- 0.5 mm, P < 0.001), more mitral regurgitation (using a scale of 1-4, 2.2 +/- 1.0 vs. 0.90 +/- 0.60, P < 0.0001), larger LVEDD, and larger dimensions of sinus of Valsalva, sinotubular junction, aortic arch, and descending aorta indexed to square root body surface area, when compared with those without MVP. When echocardiographic features of patients younger than 18 years of age and those of patients older than 18 were compared, adult Marfan patients had larger LA dimension (indexed to square root body surface area), larger sinotubular junction (indexed to square root body surface area), and more mitral regurgitation and aortic regurgitation.
Conclusions:
The prevalence of MVP in Marfan syndrome is lower than previously reported. The large majority of patients with MVP have bileaflet involvement, and those with MVP have significantly larger aortic root diameters, suggesting a diffuse disease process.
Insights
The prevalence of mitral valve prolapse (MVP) in Marfan syndrome is lower than previously thought. Patients with MVP often have bileaflet involvement and larger aortic root diameters, indicating a widespread condition.
Area of Science:
- Cardiology
- Genetics
- Medical Imaging
Background:
- Marfan syndrome is a genetic disorder affecting connective tissue.
- Previous studies reported high incidence of mitral valve prolapse (MVP) in Marfan syndrome (40-80%).
- Older studies used less specific diagnostic criteria for MVP.
Purpose of the Study:
- To investigate mitral valve prolapse (MVP) characteristics in Marfan syndrome using current diagnostic criteria.
- To re-evaluate the incidence of MVP in Marfan syndrome.
Main Methods:
- Transthoracic echocardiography performed on 90 Marfan syndrome patients (Jan 1990-Mar 2004).
- Recorded patient demographics and quantified mitral valve thickness, motion, and regurgitation.
- Measured aortic dimensions blinded to clinical information.
Main Results:
- 28% of patients had MVP, with 80% showing bileaflet involvement.
- MVP patients had thicker mitral leaflets and more mitral regurgitation compared to non-MVP patients.
- MVP patients exhibited larger aortic dimensions, suggesting a diffuse disease process.
Conclusions:
- The actual prevalence of MVP in Marfan syndrome is lower than previously reported.
- Bileaflet involvement is common in Marfan syndrome-associated MVP.
- MVP in Marfan syndrome is associated with significantly larger aortic root diameters, indicative of a systemic connective tissue issue.
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