Dataset Information

Familial occurrence of mitral regurgitation in patients with mitral valve prolapse undergoing mitral valve surgery.

ABSTRACT:

Background

Initial studies have suggested the familial clustering of mitral valve prolapse, but most of them were either community based among unselected individuals or applied non-specific diagnostic criteria. Therefore little is known about the familial distribution of mitral regurgitation in a referral-type population with a more severe mitral valve prolapse phenotype. The objective of this study was to evaluate the presence of familial mitral regurgitation in patients undergoing surgery for mitral valve prolapse, differentiating patients with Barlow's disease, Barlow forme fruste and fibro-elastic deficiency.

Methods

A total of 385 patients (62?±?12 years, 63% men) who underwent surgery for mitral valve prolapse were contacted to assess cardiac family history systematically. Only the documented presence of mitral regurgitation was considered to define 'familial mitral regurgitation'. In the probands, the aetiology of mitral valve prolapse was defined by surgical observations.

Results

A total of 107 (28%) probands were classified as having Barlow's disease, 85 (22%) as Barlow forme fruste and 193 (50%) patients as fibro-elastic deficiency. In total, 51 patients (13%) reported a clear family history for mitral regurgitation; these patients were significantly younger, more often diagnosed with Barlow's disease and also reported more sudden death in their family as compared with 'sporadic mitral regurgitation'. In particular, 'familial mitral regurgitation' was reported in 28 patients with Barlow's disease (26%), 15 patients (8%) with fibro-elastic deficiency and eight (9%) with Barlow forme fruste (P?ConclusionsIn a large cohort of patients operated for mitral valve prolapse, the self-reported prevalence of familial mitral regurgitation was 26% in patients with Barlow's disease and still 8% in patients with fibro-elastic deficiency, highlighting the importance of familial anamnesis and echocardiographic screening in all mitral valve prolapse patients.

SUBMITTER: Hiemstra YL

PROVIDER: S-EPMC7008556 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature

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Publications

Familial occurrence of mitral regurgitation in patients with mitral valve prolapse undergoing mitral valve surgery.

Hiemstra Yasmine L YL Wijngaarden Aniek L van ALV Bos Mathilde W MW Schalij Martin J MJ Klautz Robert Jm RJ Bax Jeroen J JJ Delgado Victoria V Barge-Schaapveld Daniela Qcm DQ Marsan Nina Ajmone NA

European journal of preventive cardiology 20190902 3

<h4>Background</h4>Initial studies have suggested the familial clustering of mitral valve prolapse, but most of them were either community based among unselected individuals or applied non-specific diagnostic criteria. Therefore little is known about the familial distribution of mitral regurgitation in a referral-type population with a more severe mitral valve prolapse phenotype. The objective of this study was to evaluate the presence of familial mitral regurgitation in patients undergoing surg ...[more]

PMID: 31475862

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Project description:Mitral annular disjunction (MAD) is routinely diagnosed by cardiac imaging, mostly by echocardiography, and shown to be a risk factor for ventricular arrhythmias. While MAD is associated with mitral valve (MV) prolapse (MVP), it is unknown which patients with MAD are at higher risk and which additional imaging features may help identify them. The value of cardiac computed tomography (CCT) for the diagnosis of MAD is unknown. Accordingly, we aimed to: (1) develop a standardized CCT approach to identify MAD in patients with MVP and severe mitral regurgitation (MR); (2) determine its prevalence and identify features that are associated with MAD in this population. We retrospectively studied 90 patients (age 63 ± 12 years) with MVP and severe MR, who had pre-operative CCT (256-slice scanner) of sufficient quality for analysis. The presence and degree of MAD was assessed by rotating the view plane around the MV center to visualize disjunction along the annulus. Additionally, detailed measurements of MV apparatus and left heart chambers were performed. Univariate logistic regression analysis was performed to determine which parameters were associated with MAD. MAD was identified in 18 patients (20%), and it was typically located adjacent to a prolapsed or flail mitral leaflet scallop. Of these patients, 75% had maximum MAD distance > 4.8 mm and 90% > 3.8 mm. Female gender was most strongly associated with MAD (p = 0.04). Additionally, smaller end-diastolic mitral annulus area (p = 0.045) and longer posterior leaflet (p = 0.03) were associated with greater MAD. No association was seen between MAD and left ventricular size and function, left atrial size, and papillary muscle geometry. CCT can be used to readily detect MAD, by taking advantage of the 3D nature of this modality. A significant portion of MVP patients referred for mitral valve repair have MAD. The presence of MAD is associated with female gender, smaller annulus size and greater posterior leaflet length.

Project description:BackgroundMild physiologic mitral regurgitation (MR) is common in normal individuals. Patients with primary MR due to mitral valve prolapse (MVP) may also exhibit less than moderate MR. We sought to determine whether MVP patients with less than moderate MR displayed early cardiac chamber remodeling or factors related to early remodeling and whether early remodeling predicted MR progression.MethodsConsecutive MVP patients with less than moderate MR by proximal isovelocity surface area-derived effective regurgitant orifice < 20 mm2 and regurgitant volume < 30 mL, were matched for age and sex with non-MVP patients (controls) having less than moderate MR. Patients with moderate or greater dysfunctional left- or right-sided valves and left ventricular ejection fraction < 50% were excluded. We evaluated left ventricle (LV) and left atrium (LA) remodeling parameters (LV end-diastolic and end-systolic indexed diameters, LA volume-index, and LV mass-index) as well as determinants of remodeling. The last available transthoracic echocardiography was reviewed to identify progression to moderate-severe MR or more.ResultsA total of 253 MVP patients with less than moderate MR were matched to 344 controls (P for age and sex, ≥.18) with less than moderate MR. Patients with MVP (mean effective regurgitant orifice and regurgitant volume, 12 ± 4 mm2 and 18 ± 6 mL, respectively) had more premature ventricular contractions (PVCs), larger LV and LA remodeling parameters, and more mild-to-moderate MR (all P < .0001). Multivariate linear regression models showed that larger LV remodeling parameters were independently associated with MVP and female sex but not MR severity (all P < .0001). The LA volume index was independently associated with MVP, age, and E/e' (all P < .0001). The LV mass index was associated with MVP, age, and hypertension (all P ≤ .002). Presence of PVCs was associated with LV end-systolic diameter ≥ 40 mm and indexed ≥ 22 mm2 (P = .005). Among 323 (54%) patients having subsequent transthoracic echocardiography, 17 patients (all MVP) progressed to moderate-severe MR or more at a median of 4.3 (interquartile range, 1.7-6.4) years. Isolated posterior leaflet prolapse was the single factor associated with MR progression (adjusted hazard ratio, 2.70; 95% CI, 0.99-7.34; P = .048) after adjustment for MR severity. At a median of 5.9 (interquartile range, 4.6-7.2) years of follow-up, female sex and MVP (vs controls) were protective factors for mortality.ConclusionsPatients with less than moderate MR due to MVP exhibit early LV and LA remodeling, which does not predict MR progression or mortality. Left ventricle remodeling is associated with MVP, female sex, and presence of PVCs. Early chamber remodeling associated with MVP may be the phenotypical expression of a genetically mediated process and is at least partially related to PVCs.

Dataset Information

Familial occurrence of mitral regurgitation in patients with mitral valve prolapse undergoing mitral valve surgery.

Background

Methods

Results

Publications

Familial occurrence of mitral regurgitation in patients with mitral valve prolapse undergoing mitral valve surgery.

Similar Datasets

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