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. 2014 Jan;27(1):17-23.
doi: 10.1016/j.echo.2013.09.015. Epub 2013 Oct 24.

Mild expression of mitral valve prolapse in the Framingham offspring: expanding the phenotypic spectrum

Francesca N Delling  1 , Philimon Gona  2 , Martin G Larson  3 , Birgitta Lehman  4 , Warren J Manning  5 , Robert A Levine  6 , Emelia J Benjamin  7 , Ramachandran S Vasan  7
Affiliations

Mild expression of mitral valve prolapse in the Framingham offspring: expanding the phenotypic spectrum

Francesca N Delling et al. J Am Soc Echocardiogr. 2014 Jan.

Abstract

Background: Mitral valve (MV) prolapse (MVP) is a common disorder associated with mitral regurgitation, endocarditis, heart failure, and sudden death. Nondiagnostic morphologies have been described in the familial context and may represent early expression of MVP in those genetically predisposed. The aim of this study was to explore the spectrum of MVP abnormalities in the community and compare their clinical and echocardiographic features.

Methods: We measured annular diameter MV leaflet displacement, thickness, anterior and posterior leaflet projections onto the annulus, MV leaflet coaptation height (posterior MV leaflet projection/annular diameter), and MR jet height in 296 individuals of the Framingham Offspring Study with MVP (n = 77), the "abnormal anterior coaptation" (AAC) phenotype (n = 11) or "minimal systolic displacement" (MSD) (n = 57), and 151 age-matched and sex-matched referents with no MVP or its nondiagnostic forms.

Results: AAC did not meet diagnostic displacement criteria but resembled MVP with regard to annular diameter and leaflet thickness (P > .05 for both). AAC was similar to posterior MVP with regard to posterior leaflet asymmetry and an anteriorly shifted coaptation (P = .91). Compared to patients with MSD and referents, patients with AAC had greater leaflet coaptation height, thickness, and annular diameter (P < .05 for all). MSD shared the posterior leaflet asymmetry with MVP, but the coaptation point was more posterior (coaptation height = 31% vs. 42%, P < .0001), as seen in referents. A higher proportion of patients with MVP had jet height ≥ 2 mm (mild or greater MR) compared with the other participants (44% vs. 16%, P < .0001).

Conclusions: Nondiagnostic morphologies are observed in the community and share the common feature of posterior leaflet asymmetry with MVP. AAC and MSD may thus represent early expressions of MVP. Longitudinal studies are warranted to elucidate the natural history of these phenotypes.

Keywords: AAC; Abnormal anterior coaptation; Echocardiography; FHS; Framingham Heart Study; JH; LV; Left ventricular; MR; MSD; MV; MVP; Minimal systolic displacement; Mitral regurgitation; Mitral regurgitation jet height; Mitral valve; Mitral valve prolapse.

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Figures

Figure 1
Figure 1
Echo examples of posteriorly coapting leaflets (anterior leaflet [AL]; posterior leaflet [PL]) in a normal subject (A) versus increased coaptation height in a prodromal individual and an elongated posterior leaflet (B) and in a subject with classic posterior MVP into the left atrium (LA) (C). D, Schematics showing projections of anterior (A) and posterior (P) leaflets onto the mitral annular diameter (D). C indicates the coaptation height relative to the annulus and is calculated as P/D. AO, aorta; LV, left ventricle; and RV, right ventricle.
Figure 2
Figure 2
Example of minimal systolic displacement (MSD) with 1) posterior coaptation 2) posterior leaflet asymmetry which resembles that seen in fully affected individuals BUT with 3) borderline degree of displacement (≤ 2 mm, involving the posterior leaflet).
Figure 3
Figure 3
Comparison between prodromals and MVP type relative to coaptation height. MV= mitral valve. LS = least square.
See this image and copyright information in PMC

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