Objective: Posterior mitral valve leaflet prolapse repair can be performed by leaflet resection or chordal replacement techniques. The impact of these techniques on left ventricular function... Show moreObjective: Posterior mitral valve leaflet prolapse repair can be performed by leaflet resection or chordal replacement techniques. The impact of these techniques on left ventricular function remains a topic of debate, considering the presumed better preservation of mitral-ventricular continuity when leaflet resection is avoided. We explored the effect of different posterior mitral valve leaflet repair techniques on postoperative left ventricular function. Methods: In total, 125 patients were included and divided into 2 groups: leaflet resection (n=82) and isolated chordal replacement (n=43). Standard and advanced echocardiographic assessments were performed preoperatively, directly postoperatively, and at late follow-up. In addition, left ventricular global longitudinal strain was measured and corrected for left ventricular end-diastolic volume to adjust for the significant changes in left ventricular volumes. Results: At baseline, no significant intergroup difference in left ventricular function was observed measured with the corrected left ventricular global longitudinal strain (resect: 1.76% +/- 0.58%/10 mL vs respect: 1.70% +/- 0.57%/10 mL, P=.560). Postoperatively, corrected left ventricular global longitudinal strain worsened in both groups but improved significantly during late follow-up, returning to preoperative values (resect: 1.39% +/- 0.49% to 1.71% +/- 0.56%/10 mL, P<.001 and respect: 1.30% +/- 0.45% to 1.70% +/- 0.54%/10 mL, P<.001). Mixed model analysis showed no significant effect on the corrected left ventricular global longitudinal strain when comparing the 2 different surgical repair techniques over time (P=.943). Conclusions: Our study showed that both leaflet resection and chordal replacement repair techniques are effective at preserving postoperative left ventricular function in patients with posterior mitral valve leaflet prolapse and significant regurgitation. Show less
ObjectivePosterior mitral valve leaflet prolapse repair can be performed by leaflet resection or chordal replacement techniques. The impact of these techniques on left ventricular function remains... Show moreObjectivePosterior mitral valve leaflet prolapse repair can be performed by leaflet resection or chordal replacement techniques. The impact of these techniques on left ventricular function remains a topic of debate, considering the presumed better preservation of mitral-ventricular continuity when leaflet resection is avoided. We explored the effect of different posterior mitral valve leaflet repair techniques on postoperative left ventricular function.MethodsIn total, 125 patients were included and divided into 2 groups: leaflet resection (n = 82) and isolated chordal replacement (n = 43). Standard and advanced echocardiographic assessments were performed preoperatively, directly postoperatively, and at late follow-up. In addition, left ventricular global longitudinal strain was measured and corrected for left ventricular end-diastolic volume to adjust for the significant changes in left ventricular volumes.ResultsAt baseline, no significant intergroup difference in left ventricular function was observed measured with the corrected left ventricular global longitudinal strain (resect: 1.76% ± 0.58%/10 mL vs respect: 1.70% ± 0.57%/10 mL, P = .560). Postoperatively, corrected left ventricular global longitudinal strain worsened in both groups but improved significantly during late follow-up, returning to preoperative values (resect: 1.39% ± 0.49% to 1.71% ± 0.56%/10 mL, P < .001 and respect: 1.30% ± 0.45% to 1.70% ± 0.54%/10 mL, P < .001). Mixed model analysis showed no significant effect on the corrected left ventricular global longitudinal strain when comparing the 2 different surgical repair techniques over time (P = .943).ConclusionsOur study showed that both leaflet resection and chordal replacement repair techniques are effective at preserving postoperative left ventricular function in patients with posterior mitral valve leaflet prolapse and significant regurgitation. Show less
Wijngaarden, A.L. van; Mantegazza, V.; Hiemstra, Y.L.; Volpato, V.; Bijl, P. van der; Pepi, M.; ... ; Bax, J.J. 2022
BACKGROUND In patients with severe primary mitral regurgitation (MR), the indication for surgery is currently based on the presence of symptoms, left ventricular dilatation and dysfunction, atrial... Show moreBACKGROUND In patients with severe primary mitral regurgitation (MR), the indication for surgery is currently based on the presence of symptoms, left ventricular dilatation and dysfunction, atrial fibrillation, and pulmonary hypertension.OBJECTIVES The aim of this study was to evaluate the prognostic impact of the presence of extra-mitral valve cardiac involvement (including known risk factors but also severe left atrial [LA] dilatation and right ventricular [RV] dysfunction) in a large multicenter study of patients with primary MR.METHODS Patients with severe primary MR undergoing surgery were included and categorized according to the extent (highest) of cardiac involvement: group 0, no cardiac involvement; group 1, left ventricular involvement; group 2, LA involvement; group 3, pulmonary vasculature or tricuspid valve involvement; or group 4, RV involvement. The outcome was all-cause mortality.RESULTS A total of 1,106 patients were included (mean age 63 +/- 12 years, 68% male). In total, 377 patients (34%) were classified in group 0, 239 (22%) in group 1, 213 (19%) in group 2, 180 (16%) in group 3, and 97 (9%) in group 4. Kaplan-Meier curve analysis revealed significantly worse survival (log-rank chi-square 1/4 43.4; P < 0.001) with higher group. On multivariable analysis, age, male sex, chronic obstructive pulmonary disease, kidney function, and group of cardiac involvement were independently associated with all-cause mortality. For each increase in group, a 17% higher risk for all-cause mortality was observed (95% CI: 1.051-1.313; P <1/4> 0.005) during a median follow-up time of 88 months.CONCLUSIONS In patients with severe primary MR, a novel classification system based on extra-mitral valve cardiac involvement may help refine risk stratification and timing of surgery, particularly including severe LA dilatation and RV dysfunction in the assessment. (C) 2022 by the American College of Cardiology Foundation. Show less
In patients with primary mitral regurgitation (MR), concomitant tricuspid valve (TV) annuloplasty at the time of left-sided valve surgery is indicated in case of a dilated TV annulus >= 40 mm... Show moreIn patients with primary mitral regurgitation (MR), concomitant tricuspid valve (TV) annuloplasty at the time of left-sided valve surgery is indicated in case of a dilated TV annulus >= 40 mm independent of the presence or severity of tricuspid regurgitation (TR). However, the long-term impact on right ventricular (RV) adverse remodeling is less well established and the benefit of preventive TV annuloplasty remains controversial. The aim of the study was to assess differences in long-term RV adverse remodeling and the development of significant TR in those patients. In total, 98 patients (mean age 65 +/- 11 years, 85% men) with significant primary MR and TV annulus dilatation >= 40 mm without significant TR who underwent mitral valve (MV) repair with or without concomitant TV annuloplasty were included. Of the 98 patients, 28 patients underwent isolated MV repair without TV annuloplasty and 70 patients received concomitant TV annuloplasty at the time of MV surgery. The RV basal diameter (p = 0.03), RV long-axis diameter (p = 0.04), RV end-diastolic area (p < 0.01), and RV end-systolic area (p = 0.03) showed less adverse remodeling at follow-up in patients with concomitant TV annuloplasty compared with patients without TV annuloplasty. Additionally, 4 patients (14%) in the subgroup without TV annuloplasty developed significant TR during follow-up in contrast to zero patients in the subgroup with TV annuloplasty (p = 0.001). In conclusion, concomitant preventive TV annuloplasty during MV surgery in patients with primary MR, no significant TR and a tricuspid annulus (>= 40 mm) prevented RV adverse remodeling and the development of significant TR at long-term follow-up. Show less
Aims Mitral regurgitation (MR) has a significant haemodynamic impact on the left atrium. Assessment of left atrial reservoir strain (LARS) may have important prognostic implications, incremental to... Show moreAims Mitral regurgitation (MR) has a significant haemodynamic impact on the left atrium. Assessment of left atrial reservoir strain (LARS) may have important prognostic implications, incremental to left atrial (LA) volume, and conventional parameters of left ventricular (LV) structure and function. This study investigated whether preoperative assessment of LARS by speckle tracking echocardiography is associated with long-term outcomes in patients undergoing mitral valve repair for severe primary MR. Methods and results Echocardiography was performed prior to mitral valve surgery in 566 patients (age 64 +/- 12years, 66% men) with severe primary MR. The study population was subdivided based on a LARS value of 22%, using a spline curve analysis. The primary endpoint was all-cause mortality. During a median follow-up of 7 (4-12) years, 129 (22.8%) patients died. Patients with LARS <= 22% showed significantly higher mortality rates at 1-, 3-, and 5-year follow-up (6%, 12%, and 15%, respectively) when compared with patients with LARS >22% (2%, 3% and 5%, respectively, P < 0.001). Age [hazard ratio (HR): 1.06; 95% confidence interval (CI): 1.03-1.09; P < 0.001], LV global longitudinal strain (HR: 0.92; 95% CI: 0.87-0.98; P = 0.014), and LARS (HR: 0.96; 95% CI: 0.93-0.99; P = 0.014) were independently associated with all-cause mortality. Conclusion Preoperative LARS is independently associated with all-cause mortality in patients undergoing mitral valve repair for primary MR and provides incremental prognostic value over LA volume. LARS might be helpful to guide timing of mitral valve surgery in patients with severe primary MR. Show less
The formation of superimposed tissue (SIT), a layer on top of the original valve leaflet, has been described in patients with mitral regurgitation as a major contributor to valve thickening and... Show moreThe formation of superimposed tissue (SIT), a layer on top of the original valve leaflet, has been described in patients with mitral regurgitation as a major contributor to valve thickening and possibly as a result of increased mechanical stresses. However, little is known whether SIT formation also occurs in aortic valve disease. We therefore performed histological analyses to assess SIT formation in aortic valve leaflets (n = 31) from patients with aortic stenosis (n = 17) or aortic regurgitation due to aortic dilatation (n = 14). SIT was observed in both stenotic and regurgitant aortic valves, both on the ventricular and aortic sides, but with significant differences in distribution and composition. Regurgitant aortic valves showed more SIT formation in the free edge, leading to a thicker leaflet at that level, while stenotic aortic valves showed relatively more SIT formation on the aortic side of the body part of the leaflet. SIT appeared to be a highly active area, as determined by large populations of myofibroblasts, with varied extracellular matrix composition (higher collagen content in stenotic valves). Further, the identification of the SIT revealed the presence of foldings of the free edge in the diseased aortic valves. Insights into SIT regulation may further help in understanding the pathophysiology of aortic valve disease and potentially lead to the development of new therapeutic treatments. Show less
OBJECTIVES: Barlow's disease (BD) is characterized by thick, redundant mitral valve (MV) leaflets, which can lead to prolapse and significant mitral regurgitation (MR). MV annular abnormalities are... Show moreOBJECTIVES: Barlow's disease (BD) is characterized by thick, redundant mitral valve (MV) leaflets, which can lead to prolapse and significant mitral regurgitation (MR). MV annular abnormalities are also commonly observed and increasingly recognized as possible primary pathology, with leaflet thickening being secondary to increased stress on the MV apparatus. To provide more insights into this hypothesis, the evolution of MV abnormalities over time in patients with BD was assessed.METHODS: A total of 64 patients (54 +/- 12 years, 72% male) with BD who underwent MV surgery and had multiple transthoracic echocardiograms (HE) before surgery were included. In total, 186 TTE were analysed (median time interval 4.2, interquartile range 2.2-6.5 years) including specific MV characteristics.RESULTS: At baseline, MV leaflet length, thickness, billowing height and annular diameter were larger in patients with BD compared to 59 healthy subjects. Systolic outward motion (curling) of the annulus was observed in 77% and severe mitral annular disjunction (>= 5 mm) in 38% of patients with BD. Forty (63%) patients had MR grade I-Il and 24 (37%) MR grade III-IV; at baseline, the 2 groups only differed in left atrial volume and in thickness and billowing height of the posterior leaflet, showing comparable MV annular abnormalities and dilatation despite different grades of MR. Over time, MV annulus diameter, leaflet length and billowing height increased significantly along with MR grade.CONCLUSIONS: In patients with BD, MV annulus abnormalities are present at an early stage and precede the development of significant MR, suggesting their substantial role in the pathophysiology of this disease and as an important target for surgical treatment. Show less
Degenerative mitral valve disease causing mitral valve prolapse is the most common cause of primary mitral regurgitation, with two distinct phenotypes generally recognized with some major... Show moreDegenerative mitral valve disease causing mitral valve prolapse is the most common cause of primary mitral regurgitation, with two distinct phenotypes generally recognized with some major differences, i.e., fibroelastic deficiency (FED) and Barlow's disease. The aim of this review was to describe the main histological, clinical and echocardiographic features of patients with FED and Barlow's disease, highlighting the differences in diagnosis, risk stratification and patient management, but also the still significant gaps in understanding the exact pathophysiology of these two phenotypes. Show less
Wijngaarden, A.L. van; Riva, M. de; Hiemstra, Y.L.; Bijl, P. van der; Fortuni, F.; Bax, J.J.; ... ; Marsan, N.A. 2021
Mitral valve prolapse (MVP) is a common valvular disease, which may remain a benign condition for a long period of time. However, some patients experience malignant ventricular arrhythmias and... Show moreMitral valve prolapse (MVP) is a common valvular disease, which may remain a benign condition for a long period of time. However, some patients experience malignant ventricular arrhythmias and sudden cardiac death (SCD). It is still largely unknown how to risk-stratify these patients, and no specific recommendations have been proposed to help the clinical decision-making. We present the case of a young man whose first clinical presentation was an out-of-hospital cardiac arrest and was subsequently diagnosed with MVP. We highlighted the possible risk factors for SCD and the challenges in the clinical management of these patients. Show less
PurposeAlthough a familial distribution has been documented, the genetic aetiology of mitral valve prolapse (MVP) is largely unknown, with only four genes identified so far: FLNA, DCHS1, DZIP1 and... Show morePurposeAlthough a familial distribution has been documented, the genetic aetiology of mitral valve prolapse (MVP) is largely unknown, with only four genes identified so far: FLNA, DCHS1, DZIP1 and PLD1. The aim of this study was to evaluate the genetic yield in known causative genes and to identify possible novel genes associated with MVP using a heart gene panel based on exome sequencing.MethodsPatients with MVP were referred for genetic counselling when a positive family history for MVP was reported and/or Barlow's disease was diagnosed. In total, 101 probands were included to identify potentially pathogenic variants in a set of 522 genes associated with cardiac development and/or diseases.Results97 (96%) probands were classified as Barlow's disease and 4 (4%) as fibroelastic deficiency. Only one patient (1%) had a likely pathogenic variant in the known causative genes (DCHS1). However, an interesting finding was that 10 probands (11%) had a variant that was classified as likely pathogenic in six different, mostly cardiomyopathy genes: DSP (1x), HCN4 (1x), MYH6 (1x), TMEM67 (1x), TRPS1 (1x) and TTN (5x).ConclusionExome slice sequencing analysis performed in MVP probands reveals a low genetic yield in known causative genes but may expand the cardiac phenotype of other genes. This study suggests for the first time that also genes related to cardiomyopathy may be associated with MVP. This highlights the importance to screen these patients and their family for the presence of arrhythmias and of 'disproportionate' LV remodelling as compared with the severity of mitral regurgitation, unravelling a possible coexistent cardiomyopathy. Show less
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... Show moreBackground: 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 < 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. Show less
