Mitral valve prolapse syndrome and MASS phenotype: Stability of aortic dilatation but progression of mitral valve prolapse

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• 作者：Moritz Rippe^a ; ¹ ; Julie De Backer^d ; ^e ; ¹ ; Kerstin Kutsche^b ; Laura Muiñ ; o Mosquera^d ; Helke Schü ; ler^a ; Meike Rybczynski^a ; Alexander M. Bernhardt^a ; Britta Keyser^f ; Mathias Hillebrand^a ; Thomas S. Mir^a ; Jü ; rgen Berger^c ; Stefan Blankenberg^a ; Dietmar Koschyk^a ; ¹ ; Yskert von Kodolitsch^a ; ¹ ; ^{kodolitsch@uke.de" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Aorta ; Aneurysm ; Mitral valve ; Marfan syndrome ; Echocardiography ; FBN1
• 刊名：IJC Heart & Vasculature
• 出版年：2016
• 出版时间：March 2016
• 年：2016
• 卷：10
• 期：Complete
• 页码：39-46
• 全文大小：448 K

文摘

Mitral valve prolapse syndrome (MVPS) and MASS phenotype (MASS) are Marfan-like syndromes that exhibit aortic dilatation and mitral valve prolapse. Unlike in Marfan syndrome (MFS), the presence of ectopia lentis and aortic aneurysm preclude diagnosis of MVPS and MASS. However, it is unclear whether aortic dilatation and mitral valve prolapse remain stable in MVPS or MASS or whether they progress like in MFS.

Methods

This retrospective longitudinal observational study examines clinical characteristics and long-term prognosis of 44 adults with MVPS or MASS (18 men, 26 women aged 38 ± 17 years) as compared with 81 adults with Marfan syndrome (MFS) with similar age and sex distribution. The age at final contact was 42 ± 15 years with mean follow-up of 66 ± 49 months.

Results

At baseline, ectopia lentis and aortic sinus aneurysm were absent in MVPS and MASS, and systemic scores defined by the revised Ghent nosology were lower than in MFS (all P < .001). Unlike in MFS, no individual with MVPS and MASS developed aortic complications (P < .001). In contrast, the incidence of endocarditis (P = .292), heart failure (P = .644), and mitral valve surgery (P = .140) was similar in all syndromes. Cox regression analysis identified increased LV end-diastolic (P = .013), moderate MVR (P = .019) and flail MV leaflet (P = .017) as independent predictors of mitral valve surgery.

Conclusions

The study provides evidence that MVPS and MASS are Marfan-like syndromes with stability of aortic dilatation but with progression of mitral valve prolapse. Echocardiographic characteristics of mitral valve disease rather than the type of syndrome, predict clinical progression of mitral valve prolapse.