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. 2025 May 20;14(10):e040947.
doi: 10.1161/JAHA.125.040947. Epub 2025 May 13.

Clinical and Phenotypic Correlates of Mitral Valve Prolapse in Marfan Syndrome: The Cornell Aortic Aneurysm Registry

Nupoor Narula  1 , Yosef Schwartz  1 , Richard B Devereux  1 , Xiaoyue Ma  2 , Jonathan W Weinsaft  1 , Leonard Girardi  3 , Mary J Roman  1
Affiliations

Clinical and Phenotypic Correlates of Mitral Valve Prolapse in Marfan Syndrome: The Cornell Aortic Aneurysm Registry

Nupoor Narula et al. J Am Heart Assoc. .

Abstract

Background: Mitral valve prolapse (MVP) is highly prevalent in Marfan syndrome (MFS), but its associations with significant valvular regurgitation, the need for mitral valve (MV) surgery or elective aortic root replacement, and the occurrence of aortic dissection in MFS are not fully elucidated.

Methods: Imaging, anthropometric, cardiovascular disease, and surgical data were compared in patients with and without MVP in a large, single-center MFS registry.

Results: Of 352 patients with MFS, MVP was present in 237 (67.3%) and was more common in women (73.3% versus 59.9%, P=0.007). Patients with MVP had distinct skeletal features, including a lower body mass index, and higher prevalences of scoliosis surgery, arachnodactyly, and skin striae. Although rates of MV surgery were similar in men (14.7%) and women (16.9%), women underwent surgery at a younger age (35.4±14.5 versus 43.0±14.6 years; P=0.04). Patients who underwent MV surgery were more likely to undergo aortic root replacement (73.2% versus 42.6%, P<0.001) and to have a type B aortic dissection (25.0% versus 11.8%, P=0.01).

Conclusions: MVP is highly prevalent in MFS and more likely to necessitate MV surgery compared with the general population, particularly among women. The associations of MV surgery with aortic root replacement and type B dissection indicate that MVP associated with the need for mitral surgery tracks with a more severe aortic phenotype in MFS.

Keywords: Marfan syndrome; elective aortic root replacement; mitral regurgitation; mitral valve prolapse; mitral valve surgery; type B aortic dissection.

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Conflict of interest statement

Dr Narula is partially supported as a Bruce B. Lerman Clinical Scholar. Drs Narula, Devereux, Roman, and Weinsaft are partially supported by the National Institutes of Health award R01 HL170570. The remaining authors have no disclosure to report.

Figures

Figure 1
Figure 1. Kaplan‐Meier of survival in the presence and absence of mitral valve surgery.
Presence or absence of mitral valve surgery did not impact overall survival.
Figure 2
Figure 2. Survival in independent mitral valve surgery or concomitant mitral and aortic surgery groups.
Comparison of independent mitral valve surgery, concomitant mitral valve and aortic surgery, mitral surgery without any aortic surgery, and no mitral surgery demonstrated a signal for improved survival in those without mitral surgery or in those who had concomitant mitral and aortic surgery.
Figure 3
Figure 3. Kaplan‐Meier of elective aortic root replacement in patients with vs without mitral valve surgery.
The cumulative hazard of having an elective aortic root replacement was significantly higher in those with vs without mitral valve surgery.
Figure 4
Figure 4. Mitral valve prolapse in Marfan syndrome.
In this large, single‐center MFS registry, MVP was highly prevalent and seen in 237 of 352 (67.3%) patients, of whom 23.2% required MV surgery. Patients with MV surgery were more likely to undergo ARR (73.2% vs 42.6%, P<0.001) and to have a type B aortic dissection (25.0% vs 11.8%, P=0.01), demonstrating that MV associated with need for MV surgery tracks with a more severe aortic phenotype in MFS. ARR indicates elective aortic root replacement; MFS, Marfan syndrome; MV, mitral valve; and MVP, mitral valve prolapse.
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