A Case of Mitral Annular Disjunction in Marfan Syndrome.
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ABSTRACT:
SUBMITTER: Dawdy J
PROVIDER: S-EPMC8370866 | biostudies-literature |
REPOSITORIES: biostudies-literature
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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.
| S-EPMC8178815 | biostudies-literature
Project description:BACKGROUND: Mitral annular disjunction (MAD) consists of an altered spatial relation between the left atrial wall, the attachment of the mitral leaflets, and the top of the left ventricular (LV) free wall, manifested as a wide separation between the atrial wall-mitral valve junction and the top of the LV free wall. Originally described in association with myxomatous mitral valve disease, this abnormality was recently revisited by a surgical group that pointed its relevance for mitral valve reparability. The aims of this study were to investigate the echocardiographic prevalence of mitral annular disjunction in patients with myxomatous mitral valve disease, and to characterize the clinical profile and echocardiographic features of these patients. METHODS: We evaluated 38 patients with myxomatous mitral valve disease (mean age 57 ± 15 years; 18 females) and used standard transthoracic echocardiography for measuring the MAD. Mitral annular function, assessed by end-diastolic and end-systolic annular diameters, was compared between patients with and without MAD. We compared the incidence of arrhythmias in a subset of 21 patients studied with 24-hour Holter monitoring. RESULTS: MAD was present in 21 (55%) patients (mean length: 7.4 ± 8.7 mm), and was more common in women (61% vs 38% in men; p = 0.047). MAD patients more frequently presented chest pain (43% vs 12% in the absence of MAD; p = 0.07). Mitral annular function was significantly impaired in patients with MAD in whom the mitral annular diameter was paradoxically larger in systole than in diastole: the diastolic-to-systolic mitral annular diameter difference was -4,6 ± 4,7 mm in these patients vs 3,4 ± 1,1 mm in those without MAD (p < 0.001). The severity of MAD significantly correlated with the occurrence of non-sustained ventricular tachycardia (NSVT) on Holter monitoring: MAD›8.5 mm was a strong predictor for (NSVT), (area under ROC curve = 0.74 (95% CI, 0.5-0.9); sensitivity 67%, specificity 83%). There were no differences between groups regarding functional class, severity of mitral regurgitation, LV volumes, and LV systolic function. CONCLUSIONS: MAD is a common finding in myxomatous mitral valve disease patients, easily recognizable by transthoracic echocardiography. It is more prevalent in women and often associated with chest pain. MAD significantly disturbs mitral annular function and when severe predicts the occurrence of NSVT.
| S-EPMC3014886 | biostudies-other
Project description:BackgroundMitral annular disjunction (MAD) is an under-recognized cause of arrhythmic sudden cardiac death, especially in young women. The relation between MAD and the occurrence of arrhythmia during pregnancy has not yet been explored. We would like to stress the importance of careful echocardiographic examination and the vulnerable peripartum period.Case summaryA 29-year-old woman survived an out of hospital cardiac arrest 4 months after delivery of her first child. The diagnosis was not clear and an implantable cardioverter-defibrillator (ICD) as secondary prevention was implanted. Her second pregnancy and delivery were uneventful. The 12-lead electrocardiogram demonstrated sinus rhythm with right bundle branch block, ventricular extra systoles (premature ventricular contractions), and a right superior axis, i.e. origin in the inferolateral basal left ventricle. Transthoracic 2D echocardiography showed myxomatous mitral valve disease with moderate mitral valve insufficiency with normal left and right heart dimensions and function. However, 4 weeks after delivery she experienced a sudden syncope at home. Implantable cardioverter-defibrillator reading revealed primary ventricular fibrillation, induced by a ventricular premature beat (VPB), terminated with a successful ICD shock. A frame-by-frame echocardiographic analysis of the mitral valve using biplane echocardiographic analysis allowed diagnosis of MAD with detachment of the root of the annulus from the posterolateral ventricular myocardium during systole.ConclusionMitral annular disjunction is an under-recognized cause of arrhythmic sudden cardiac death. Biplane echocardiographic analysis of the mitral annulus can identify MAD and as such may help for risk stratification and sudden cardiac death prevention. Careful follow-up is necessary especially during pregnancy and the postpartum period.
| S-EPMC7501944 | biostudies-literature
Project description:AimsWe aimed to assess the prevalence of mitral annulus disjunction (MAD) and to explore the association with aortic disease and mitral valve surgery in patients with Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS).Methods and resultsWe included consecutive MFS patients fulfilling Revised Ghent Criteria and LDS patients fulfilling Loeys-Dietz Revised Nosology. MAD was identified by echocardiography and was quantified as the longitudinal distance from the ventricular myocardium to the hinge point of the posterior mitral leaflet. Aortic events were defined as aortic dissection or prophylactic aortic surgery. We recorded the need of mitral valve surgery including mitral valve repair or replacement. We included 168 patients (103 with MFS and 65 with LDS). The prevalence of MAD was 41%. MAD was present in all age groups. Aortic events occurred in 112 (67%) patients (27 with dissections and 85 with prophylactic surgical interventions). Patients with MAD were younger at aortic event than those without MAD (log rank = 0.02) Patients with aortic events had greater MAD distance in posterolateral wall [8 (7-10) mm vs. 7 (6-8) mm, P = 0.04]. Mitral events occurred more frequently in patients with MAD (P < 0.001).ConclusionMAD was highly prevalent in patients with MFS and LDS. MAD was a marker of severe disease including aortic events at younger age and need of mitral valve surgery. Screening patients with MFS an LDS for MAD may provide prognostic information and may be relevant in planning surgical intervention. Detection of MAD in patients with MFS and LDS may infer closer clinical follow-up from younger age.
| S-EPMC8370565 | biostudies-literature
Project description:Graphical abstract Highlights • CAT is a rare non-neoplastic tumor which may be associated with mobile MAC.• Mobile component carries a high risk of embolization demonstrated in our case series.• Calcified thrombus and CAT may be on a spectrum ranging from acute to chronic.
| S-EPMC7581648 | biostudies-literature
Project description: Not available
| S-EPMC8738710 | biostudies-literature
Project description: Not available
| S-EPMC8015991 | biostudies-literature
Project description:BackgroundMitral annular disjunction (MAD) is a structural abnormality characterized by the distinct separation of the mitral valve annulus/left atrium wall and myocardium. Little is known about the significance of MAD in patients requiring mitral valve surgery. This evaluation evaluates the echocardiographic characteristics and patient outcomes for patients with and without MAD who require mitral valve surgery.MethodsAll patients who underwent mitral valve surgery and who had a pre-surgical transthoracic echocardiogram between 2013 and 2020 were included. Patient demographics and clinical outcomes were collected on review of patient electronic records.ResultsA total of 185 patients were included in the analysis of which 32.4% had MAD (average MAD length 8.4 mm). MAD was seen most commonly in patients with mitral valve prolapse and myxomatous mitral valves disease (90% and 60% respectively). In the patients with MAD prior to mitral valve surgery, only 3.9% had MAD post mitral valve surgery. There were no significant difference in the severity of post-operative mitral regurgitation, arrhythmic events or major adverse cardiovascular events in patients with and without MAD.ConclusionsMAD is common in patients who undergo mitral valve surgery. Current surgical techniques are able to correct the MAD abnormality in the vast majority of patients. MAD is not associated with an increased risk of adverse clinical outcomes post mitral valve surgery.
| S-EPMC9277900 | biostudies-literature
Project description:BACKGROUND:Mitral annular calcification (MAC) is associated with cardiovascular events and mitral valve dysfunction. However, the underlying pathophysiology remains incompletely understood. In this prospective longitudinal study, we used a multimodality approach including positron emission tomography, computed tomography, and echocardiography to investigate the pathophysiology of MAC and assess factors associated with disease activity and progression. METHODS:A total of 104 patients (age 72±8 years, 30% women) with calcific aortic valve disease, therefore predisposed to MAC, underwent 18F-sodium fluoride (calcification activity) and 18F-Fluorodeoxyglucose (inflammation activity) positron emission tomography, computed tomography calcium scoring, and echocardiography. Sixty patients underwent repeat computed tomography and echocardiography after 2 years. RESULTS:MAC (mitral annular calcium score >0) was present in 35 (33.7%) patients who had increased 18F-fluoride (tissue-to-background ratio, 2.32 [95% CI, 1.81-3.27] versus 1.30 [1.22-1.49]; P<0.001) and 18F-Fluorodeoxyglucose activity (tissue-to-background ratio, 1.44 [1.37-1.58] versus 1.17 [1.12-1.24]; P<0.001) compared with patients without MAC. MAC activity (18F-fluoride uptake) was closely associated with the local calcium score and 18F-Fluorodeoxyglucose uptake, as well as female sex and renal function. Similarly, MAC progression was closely associated with local factors, in particular, baseline MAC. Traditional cardiovascular risk factors and calcification activity in bone or remote atherosclerotic areas were not associated with disease activity nor progression. CONCLUSIONS:MAC is characterized by increased local calcification activity and inflammation. Baseline MAC burden was associated with disease activity and the rate of subsequent progression. This suggests a self-perpetuating cycle of calcification and inflammation that may be the target of future therapeutic interventions.
| S-EPMC6366554 | biostudies-literature
Project description:BACKGROUND:Mitral valve (MV) prolapse is common in children with Marfan syndrome (MFS) and is associated with varying degrees of mitral regurgitation (MR). However, the three-dimensional (3D) morphology of the MV in children with MFS and its relation to the degree of MR are not known. The goals of this study were to describe the 3D morphology of the MV in children with MFS and to compare it to that in normal children. METHODS:Three-dimensional transthoracic echocardiography was performed in 27 patients (3-21 years of age) meeting the revised Ghent criteria for MFS and 27 normal children matched by age (±1 year). The 3D geometry of the MV apparatus in midsystole was measured, and its association with clinical and two-dimensional echocardiographic parameters was examined. RESULTS:Compared with age-matched control subjects, children with MFS had larger 3D annular areas (P < .02), smaller annular height/commissural width ratios (P < .001), greater billow volumes (P < .001), and smaller tenting heights, areas, and volumes (P < .001 for all). In multivariate modeling, larger leaflet billow volume in MFS was strongly associated with moderate or greater MR (P < .01). Intra- and interuser variability of 3D metrics was acceptable. CONCLUSIONS:Children with MFS have flatter and more dilated MV annuli, greater billow volumes, and smaller tenting heights compared with normal control subjects. Larger billow volume is associated with MR. Three-dimensional MV quantification may contribute to the identification of patients with MFS and other connective tissue disorders. Further study of 3D MV geometry and its relation to the clinical progression of MV disease is warranted in this vulnerable population.
| S-EPMC6218932 | biostudies-literature