Functional Implication of Mitral Annular Disjunction in Mitral Valve Prolapse

Lee, Alex; Jin, Chun Na; Fan, Yiting; Wong, Randolph H.L.; Underwood, Malcolm J.; Wan, Song

doi:10.1016/j.jcmg.2016.11.022

Cited by 134 publications

(132 citation statements)

References 21 publications

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“…9 Differences in heritability are therefore plausible among these phenotypes, considering also recent findings suggesting that mitral valve abnormalities in BD might be secondary to developmental alterations at the annular junction and leaflets. 19 The present study showed a significantly higher prevalence of familial MR in BD patients (26%), but still a prevalence of 8% familial MR in FED and of 9% in FF Barlow. Interestingly, when studying the phenotype of MVP within families, patients with FED and BD were observed within the same family, suggesting that in some cases more limited involvement of the mitral valve might be a form of the mild phenotype of the same disease, although it might be confused with FED when based on an echocardiographic morphological definition (such as the single scallop involvement).…”

Section: Differences In Familial Mr Between Bd and Fedsupporting

confidence: 43%

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

Hiemstra

Wijngaarden

Bos

et al. 2020

European Journal of Preventive Cardiology

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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 AE 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 < 0.001). Conclusions: In 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.

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Section: Differences In Familial Mr Between Bd and Fedsupporting

confidence: 43%

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

Hiemstra

Wijngaarden

Bos

et al. 2020

European Journal of Preventive Cardiology

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“…A total of 19 studies were included in the review ( Figure 3). 1,2,[4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20] These studies included 14 retrospective cohort studies, 2 matched case-control studies, 1 cross-sectional study and 2 case reports ( Table 1). The studies were conducted between 1995 and 2018.…”

Section: Re Sultsmentioning

confidence: 99%

“…At that time, MAD was not attributed to clinically adverse outcomes and as such it received little attention. In more recent years, there has been an increasing number of studies examining the different aspects of MAD, with a general theme that MAD maybe of more clinical significance than previously thought. In particular, MAD leads to hypermobility and myxomatous degeneration of the mitral valve leaflets and there is growing evidence that MAD may be associated with ventricular arrhythmias and sudden cardiac death …”

Section: Introductionmentioning

confidence: 99%

Mitral annular disjunction: A systematic review of the literature

et al. 2019

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Background Mitral annular disjunction (MAD) is a structural abnormality where there is a separation between the mitral valve annulus and the left atrial wall which is not well understood. Methods We conducted a systematic review to evaluate the prevalence of MAD, factors associated with MAD and clinical outcomes among patients with MAD. Results A total of 19 studies were included in this review, and the number of noncase report studies had between 23 and 1439 patients. The pooled rate of MAD in studies of myxomatous mitral valve patients was 66/130 (50.8%, 3 studies), and among patients with mitral valve prolapse was 95/291 (32.6%, 3 studies). One study suggests that 78% of patients with MAD had mitral valve prolapse, and another suggested it was strongly associated with myxomatous mitral valve disease (HR 5.04 95% CI 1.66–15.31). In terms of clinical significance, it has been reported that MAD with disjunction > 8.5 mm was associated with nonsustained ventricular tachycardia (OR 10 95% CI 1.28–78.1). There is also evidence that gadolinium enhancement in papillary muscle (OR 4.09 95% CI 1.28–13.05) and longitudinal MAD distance in posterolateral wall (OR 1.16 95% CI 1.02–1.33) was predictive of ventricular arrhythmia and late gadolinium enhancement in anterolateral papillary muscle was strongly associated with serious arrhythmic event (OR 7.35 95% CI 1.15–47.02). Conclusions Mitral annular disjunction appears to be common in myxomatous mitral valve disease and mitral valve prolapse which can be detected on cardiac imaging and may be important because of its association with ventricular arrhythmias and sudden cardiac death.

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“…MAD was initially described as a separation between the LA wall at the level of MV junction and the LV free wall (Figure 1A). (34) Although prevalence of actual mitral annular disjunction versus an elongated posterior leaflet abutting the posterior LA wall remains controversial, Eriksson et al(35) reported a prevalence of MAD of around 98% on 2D TEE in patients with severe MVP-related MR. Later, Carmo et al described MAD on routine TTE and found that MAD prevalence was around 55% in patients with a myxomatous MV with varying severity of MR.(36) In a recent 3D TEE study, Lee et al demonstrated that the disjunctive annulus in MVP is decoupled functionally from the LV, leading to paradoxical annular dynamics with systolic expansion and flattening and greater MR.(37)…”

Section: Multimodality Imaging Of Mvpmentioning

confidence: 99%

Mitral Valve Prolapse: Multimodality Imaging and Genetic Insights

Parwani

Avierinos

Levine

et al. 2017

Progress in Cardiovascular Diseases

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Mitral valve prolapse (MVP) is a common heritable valvulopathy affecting approximately 2.4% of the population. It is the most important cause of primary mitral regurgitation (MR) requiring surgery. MVP is characterized by fibromyxomatous changes and displacement of one or both mitral leaflets into the left atrium. Echocardiography represents the primary diagnostic modality for assessment of MVP. Accurate quantitation of ventricular volumes and function for surgical planning in asymptomatic severe MR can be provided with both echocardiography and cardiac magnetic resonance. In addition, assessment of myocardial fibrosis using late gadolinium enhancement and T1 mapping allows better understanding of the impact of MVP on the myocardium. Imaging in MVP is important not only for diagnostic and prognostic purposes, but is also essential for detailed phenotyping in genetic studies. Genotype-phenotype studies in MVP pedigrees have allowed the identification of milder, non-diagnostic MVP morphologies by echocardiography. Such morphologies represent early expression of MVP in gene carriers. This review focuses on multimodality imaging and the phenotypic spectrum of MVP. Moreover, the review details the recent genetic discoveries that have increased our understanding of the pathophysiology of MVP, with clues to mechanisms and therapy.

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Functional Implication of Mitral Annular Disjunction in Mitral Valve Prolapse

Abstract: MAD is a common anatomic abnormality in MVP. The disjunctive annulus is decoupled functionally from the ventricle, leading to paradoxical annular dynamics with systolic expansion and flattening, and may thus require specific intervention.

Cited by 134 publications

References 21 publications

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

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

Mitral annular disjunction: A systematic review of the literature

Mitral Valve Prolapse: Multimodality Imaging and Genetic Insights

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