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Randomized Controlled Trial
. 2015 Jan 20;131(3):263-8.
doi: 10.1161/CIRCULATIONAHA.114.012594. Epub 2014 Oct 31.

Familial clustering of mitral valve prolapse in the community

Francesca N Delling  1 , Jian Rong  2 , Martin G Larson  2 , Birgitta Lehman  2 , Ewa Osypiuk  2 , Plamen Stantchev  2 , Susan A Slaugenhaupt  2 , Emelia J Benjamin  2 , Robert A Levine  2 , Ramachandran S Vasan  2
Affiliations
Randomized Controlled Trial

Familial clustering of mitral valve prolapse in the community

Francesca N Delling et al. Circulation. .

Abstract

Background: Knowledge of mitral valve prolapse (MVP) inheritance is based on pedigree observation and M-mode echocardiography. The extent of familial clustering of MVP among unselected individuals in the community using current, more specific echocardiographic criteria is unknown. In addition, the importance of nondiagnostic MVP morphologies (NDMs; first described in large pedigrees) has not been investigated in the general population. We hypothesized that parental MVP and NDMs increase the risk of offspring MVP.

Methods and results: Study participants were 3679 Generation 3 individuals with available parental data in the Offspring or the New Offspring Spouse cohorts. MVP and NDMs were distinguished by leaflet displacement >2 versus ≤2 mm beyond the mitral annulus, respectively. We compared MVP prevalence in Generation 3 participants with at least 1 parent with MVP (n=186) with that in individuals without parental MVP (n=3493). Among 3679 participants (53% women; mean age, 40±9 years), 49 (1%) had MVP. Parental MVP was associated with a higher prevalence of MVP in Generation 3 participants (10 of 186, 5.4%) compared with no parental MVP (39 of 3493, 1.1%; adjusted odds ratio, 4.51; 95% confidence interval, 2.13-9.54; P<0.0001). When parental NDMs were examined alone, the prevalence of Generation 3 MVP remained higher (12 of 484, 2.5%) compared with those without parental MVP or NDMs (27 of 3009, 0.9%; adjusted odds ratio, 2.52; 95% confidence interval, 1.25-5.10; P=0.01).

Conclusions: Parental MVP and NDMs are associated with increased prevalence of offspring MVP, highlighting the genetic substrate of MVP and the potential clinical significance of NDMs in the community.

Keywords: echocardiography; epidemiology; genetics; mitral valve prolapse.

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Figures

Figure 1
Figure 1
Example of A) posterior mitral valve prolapse with B) severe mitral regurgitation shown in a long axis view of a 2D transthoracic echocardiogram. 2D, two dimensional. AO, aorta; LV, left ventricle; and RV, right ventricle.
Figure 2
Figure 2
Two-dimensional parasternal long axis image demonstrating non-diagnostic morphologies: A) minimal systolic displacement with posteriorly coapting leaflets (anterior leaflet [AL]; posterior leaflet [PL]), posterior leaflet asymmetry, but with borderline degree of displacement (≤ 2 mm, involving the posterior leaflet, small arrows); B) ‘abnormal anterior coaptation’ morphology with increased coaptation height and an elongated posterior leaflet. AO, aorta; LV, left ventricle; and RV, right ventricle.
Figure 3
Figure 3
Patient cohorts in the Framingham Heart Study. Examination cycles are at 2 year intervals for the Original Cohort, at 4–8 years for the Offspring, New Offspring Spouse cohorts and Generation 3. The examinations at which individuals participating in this study underwent both a clinical evaluation and an echocardiogram are shown in bold. The numbers of participants with both clinical and echocardiographic examinations were as follows: N = 3418 and 2888 for Offspring examinations 6 (total N = 3532) and 8 (total N = 3021), respectively; N=103 for New Offspring Spouse examination 1 (total N = 103); N=4080 for Generation 3 examination 1 (total N = 4095).
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