Search Results (22)

Mitral annular disjunction (MAD) is associated with an increased risk of ventricular arrhythmias and sudden cardiac death, yet its genetic background remains poorly defined. We report the case of a 50-year-old man with MAD who survived cardiac arrest and carries three variants of unknown significance (VUS) in genes involved in cardiomyopathy pathogenesis. To explore the genetic basis of non-syndromic MAD, we performed a systematic review of the literature, identifying five case reports and one retrospective cohort study. The case reports described patients with MAD harboring four pathogenic variants and ten VUS. Two pathogenic variants were linked to cardiomyopathies, involving proteins of the nuclear envelope and cytoskeleton, while two were associated with channelopathies. The retrospective cohort study identified a recurrent variant in a gene involved in intercellular adhesion segregating within a family affected by MAD. Overall, available evidence suggests that genetic factors may hypothetically modulate susceptibility to MAD, not only in connective tissue disorders but also in isolated mitral valve disease. Variants associated with arrhythmogenic cardiomyopathies and channelopathies appear to cluster in families with non-syndromic MAD and arrhythmic phenotypes, suggesting a role in the arrhythmic substrate. However, in absence of definitive functional, segregation, or longitudinal data, the contribution of genetic variants to MAD should be interpreted with caution. Further genomic studies are needed to clarify their genetic contribution and prognostic implications. Full article

Mitral valve prolapse (MVP) is generally associated with excellent long-term outcomes when MR is absent or mild. Nonetheless, a small proportion of patients exhibit a distinct arrhythmogenic susceptibility, characterized by complex ventricular ectopy, sustained ventricular arrhythmias (VAs), and in rare instances, sudden cardiac death (SCD). This subgroup—collectively referred to as arrhythmic MVP (AMVP)—has prompted renewed attention in identifying individuals at elevated risk. Among the structural alterations associated with MVP, mitral annular disjunction (MAD) has gained recognition as a major contributor to arrhythmic vulnerability, arising from the pathological separation of the posterior annulus from the adjacent ventricular muscle. Advances in multimodality imaging, including trans-thoracic echocardiography (TTE), cardiac magnetic resonance (CMR), and cardiac computed tomography (cCT), have significantly improved delineation of MAD and clarified its relationship to the broader MVP spectrum. Current evidence suggests that MVP, MAD, and AMVP should not be regarded as isolated conditions but as intersecting phenotypes within a shared pathological framework. In certain patients, especially those without established myocardial fibrosis, abnormal annular dynamics appear to constitute the primary arrhythmogenic driver and may diminish after surgical intervention. In others, persistent arrhythmias despite optimal repair reflect a fibrosis-based substrate. This review synthesizes contemporary insights into the anatomical, biomechanical, and electrophysiological interplay linking MVP, MAD, and ventricular arrhythmogenesis, emphasizing implications for imaging-based risk assessment and individualized surgical management strategies. Full article

Mitral annular disjunction (MAD) is a structural abnormality of the mitral valve increasingly detected with advanced cardiac imaging, particularly cardiac magnetic resonance (CMR). However, the clinical impact of different degrees of disjunction and the lack of standardized measurement criteria remain controversial. This study aimed to describe a series of patients with MAD assessed by CMR and to discuss, in the context of current literature, potential cut-off values that may distinguish physiological from pathological MAD. We retrospectively identified all CMR examinations performed at our institution over a 6-month period in which MAD was visible in at least two cine steady-state free precession (SSFP) projections. For each patient, we recorded MAD extent, presence of mitral valve prolapse/regurgitation, late gadolinium enhancement (LGE) pattern, and main clinical presentation. Nine patients (mean age 57 years; 5 men) were included. Larger MAD distances (>4 mm) were frequently associated with non-ischemic LGE in the basal lateral wall and with valvular abnormalities, whereas smaller disjunctions (≤3 mm) were often observed in patients without significant structural disease. Non-ischemic LGE was present in 6/9 patients, all with MAD > 5 mm. These observations, together with published data, support the hypothesis that small degrees of MAD may represent a frequent anatomical variant, while more extensive disjunction, especially when associated with fibrosis, may indicate a pathological substrate for arrhythmias. Standardized CMR-based criteria and validated MAD cut-off values are needed to improve risk stratification and to incorporate MAD assessment into routine clinical practice. Full article

Primary mitral regurgitation (PMR) is the most common mitral valve disorder in clinical practice. Although several prognostic indicators derived from resting transthoracic echocardiography (TTE) and exercise stress echocardiography (ESE) are available, patient outcomes remain highly variable, with substantial differences in complication rates and mortality. Identifying individuals at lower cardiovascular risk is therefore clinically relevant, as they represent a large proportion of cases. Current guidelines recommend an integrative approach—combining qualitative, semi-quantitative, and quantitative indices—to determine the timing of intervention, but they do not specifically address risk stratification in low-risk PMR populations. Recent studies have highlighted the potential prognostic value of chest wall configuration, assessed noninvasively using the Modified Haller Index (MHI). Defined as the ratio of latero-lateral thoracic diameter to the antero-posterior (A-P) sternum–spine distance, MHI appears to influence myocardial deformation indices obtained by speckle-tracking echocardiography (STE). Patients with PMR due to mitral valve prolapse (MVP) often show a reduced A-P thoracic diameter caused by sternal depression. Among these, those with an MHI > 2.5 or A-P diameter ≤ 13.5 cm display greater impairment in global and basal strain, particularly in longitudinal and circumferential directions. These abnormalities likely reflect extrinsic geometric constraints and cardiac displacement leading to apparent dyssynchrony rather than intrinsic myocardial dysfunction. A reduced A-P diameter was also independently associated with mitral annular disjunction (MAD) in MVP and emerged as a determinant of impaired strain in this subgroup. In a retrospective cohort of 424 symptomatic MVP patients with moderate MR undergoing ESE, positive tests and exercise-induced severe MR were uncommon. Importantly, an MHI > 2.5 or an A-P diameter ≤ 13.5 cm was associated with a favorable medium-term prognosis, with few adverse cardiovascular events. This narrative, non-systematic review, based on a structured but non-PRISMA literature search, summarizes current evidence on conventional and novel echocardiographic prognostic markers and their implications for risk stratification in PMR. As such, it carries inherent limitations, including potential selection bias, incomplete retrieval of unpublished or negative studies, and reliance on single-center observational data. The findings should therefore be interpreted cautiously and validated through larger, independent, multicenter investigations. Full article

Background/Objectives: Mitral annular disorders constitute a heterogeneous group of structural abnormalities that can significantly influence morbidity and mortality in both adult and pediatric populations. Advances in cardiac magnetic resonance (CMR) imaging have refined the ability to characterize these disorders with high spatial resolution and reproducibility. Among them, mitral annular disjunction (MAD) and mitral valve prolapse (MVP) have emerged as interrelated entities implicated in valvular dysfunction, arrhythmogenesis, and myocardial remodeling. This study aimed to determine the prevalence of MAD in a pediatric cohort, explore its association with MVP, and delineate related CMR findings, including myocardial fibrosis. Methods: A retrospective review was conducted in 295 pediatric patients who underwent clinically indicated CMR between September 2022 and June 2025. Echocardiographic and CMR data were systematically compared for the detection of MAD, MVP, and mitral regurgitation (MR). MAD length and mitral annular measurements were obtained from two-chamber and left ventricular outflow tract (LVOT) cine sequences. Late gadolinium enhancement (LGE) was evaluated to identify myocardial fibrosis. Results: MAD was detected more frequently by means of CMR than echocardiography (23.2% vs. 9.3%), as was MVP (34.2% vs. 22.4%), whereas MR was more often observed on echocardiography (31.2% vs. 15.2%). Inter-modality agreement was moderate for MAD, moderate-to-substantial for MVP, and fair for MR. LGE was identified only in patients with concomitant MAD and MVP, suggesting limited myocardial involvement in isolated MAD. Conclusions: CMR demonstrates superior sensitivity in detecting MAD and MVP compared with echocardiography and allows for early recognition of systolic–diastolic annular dissociation before advanced myocardial remodeling occurs. These findings underscore the clinical utility of CMR as a complementary modality for comprehensive assessment, risk stratification, and follow-up of pediatric patients with suspected mitral annular abnormalities. Full article

Background/Objectives: Despite growing awareness of mitral annular disjunction’s (MAD) clinical significance, robust data regarding the outcomes of surgical interventions on MAD remain sparse. This meta-analysis aims to systematically evaluate the current evidence on the efficacy and safety of mitral valve (MV) surgery in patients with MAD. Methods: A systematic review was conducted from inception until May 2025 for studies comparing patients undergoing MV surgery with and without MAD and was registered in PROSPERO: CRD42025649821. Results: Patients with MAD were generally younger (59.3 ± 5.0 vs. 63.4 ± 2.2 years, standardized mean difference: −0.3073), had fewer comorbidities but more complex valve lesions (41.0% vs. 13.7%, risk difference: 0.2627) compared to those without MAD. MV replacement was performed less frequently in the MAD group than in the No-MAD group (risk ratio, RR: 0.690 [95% confidence interval, CI: 0.508; 0.937], p = 0.017), probably related to the significant difference in age between the two groups. The MAD cohort demonstrated a higher incidence of ventricular arrhythmia both after surgery (RR: 7.255 [95%CI: 1.231; 42.763], p = 0.029) and during follow-up (incidence rate ratio, IRR: 2.750 [95%CI: 1.372; 5.512], p = 0.004). Although the MAD group experienced more arrhythmic events over time, this did not translate into a significant difference in overall mortality compared to patients without MAD (IRR: 0.573 [95%CI: 0.072; 4.555], p = 0.599). Conclusions: This meta-analysis revealed significant baseline differences between the populations. Our findings suggest that patients with MAD remained at significantly higher risk for both postoperative and long-term arrhythmias. These results highlight the need for close arrhythmic surveillance in this population. Full article

Background: Mitral annular disjunction (MAD) is an anatomical abnormality associated with an increased risk of major arrhythmic events, regardless of the presence of mitral valve prolapse. Cardiac magnetic resonance (CMR) plays a key role in diagnosing MAD and identifying myocardial fibrosis, a marker of arrhythmic vulnerability. Aim: This study reports the experience of the De Gasperis Cardiology Centre at Niguarda Hospital (Milan, Italy) in managing high-risk MAD patients who underwent implantable cardioverter–defibrillator (ICD) implantation and describes their main clinical characteristics. Methods: Between January 2020 and April 2025, five patients with MAD who received ICDs were identified and monitored remotely. Although the small sample size limits generalizability, the objective was to characterize factors associated with arrhythmic susceptibility. Results: Four patients exhibited documented ventricular arrhythmias: two with non-sustained and two with sustained ventricular tachycardia. Notably, CMR did not reveal myocardial fibrosis in two symptomatic cases, suggesting that arrhythmic vulnerability may precede detectable structural abnormalities. The observed coexistence of MAD with arrhythmogenic cardiomyopathies and channelopathies underscores the relevance of comprehensive genetic evaluation in these patients. Conclusions: MAD should be considered a potential arrhythmogenic substrate rather than a benign anatomical variant. A multimodal diagnostic approach and individualized risk stratification—potentially integrating genetic findings—are essential for optimal patient management. Full article

Background: Mitral valve prolapse is a common valvular heart disorder, usually associated with a benign prognosis in the absence of significant mitral regurgitation. However, a subset of patients is at increased risk for complex ventricular arrhythmias and sudden cardiac death. Identifying these high-risk individuals remains a major clinical challenge. Case Summary: We present the case of a 71-year-old female patient with recurrent syncopal episodes, a strong family history of sudden cardiac death, and complex ventricular ectopy. Multimodality imaging revealed bileaflet mitral valve prolapse, severe mitral regurgitation, mitral annular disjunction, and the Pickelhaube sign, with no evidence of myocardial fibrosis on cardiac magnetic resonance imaging. The patient underwent minimally invasive mitral valve repair and received an implantable cardioverter-defibrillator for primary prevention of sudden cardiac death. Follow-up revealed significant reverse cardiac remodeling, marked reduction in arrhythmic burden, and restoration of mitral valve function. Family screening identified mitral annular disjunction in both of her daughters, who were asymptomatic and without arrhythmias. Discussion: Mitral annular disjunction has emerged as a potentially arrhythmogenic substrate, especially in patients with familial clustering, raising the possibility of a genetic predisposition. Risk stratification remains difficult, as no individual clinical, electrocardiographic, or imaging marker has demonstrated consistent predictive value. Surgical correction of mitral valve prolapse with associated mitral annular disjunction may lead to a reduction in arrhythmic risk and promote favorable structural remodeling. Conclusions: This case-based review emphasizes the importance of advanced imaging techniques in the identification and management of high-risk mitral valve prolapse phenotypes. Early surgical intervention and close arrhythmic surveillance may improve outcomes, although further research is necessary to define risk assessment tools and explore the genetic background of arrhythmogenic mitral valve disease. Full article

Mitral annular disjunction (MAD) is an increasingly recognized structural abnormality of the mitral valve apparatus, often associated with mitral valve prolapse and a heightened risk of ventricular arrhythmias and sudden cardiac death. It is defined by a separation between the mitral annulus and the left ventricular myocardium, best visualized during systole. In this review, we present an updated and comprehensive overview of MAD, drawing from recent large-scale imaging studies, expert consensus documents, and newly proposed classifications such as true versus pseudo-MAD. We discuss its prevalence, anatomical features, and diagnostic challenges across multiple imaging modalities, including transthoracic and transesophageal echocardiography, cardiovascular magnetic resonance, and computed tomography. We also explore its pathophysiological role in arrhythmogenesis, its prognostic implications, and current management strategies. Special attention is given to risk stratification based on imaging and cardiac rhythm findings, and we propose a practical clinical framework to guide decision-making. This review aims to support clinicians in recognizing MAD as a potentially arrhythmogenic condition that requires systematic evaluation and follow-up. Full article

Background and Clinical Significance: Mitral valve prolapse (MVP) is commonly benign, but may result in life-threatening arrhythmias and sudden cardiac death (SCD). Mitral annular disjunction (MAD) often coexists with mitral valve prolapse (MVP) and has been implicated in the development of ventricular arrhythmias through myocardial stretch and fibrosis. Case Presentation: Here, we present a case that highlights the diagnostic value of multimodal imaging in evaluating ventricular ectopy in the context of MVP and MAD. A 72-year-old male presented to the cardiology clinic with palpitations and fatigue, compounded by an arrhythmia identified by his Apple Watch. Holter monitoring revealed premature ventricular contractions (PVCs), with cardiac magnetic resonance imaging (CMR) demonstrating MAD and basal inferolateral scarring. Despite minimal symptoms and normal echocardiographic imaging, CMR findings highlight the utility of advanced cardiovascular imaging in patients with newly detected ventricular arrhythmias. Conclusion: This case highlights the importance of integrating consumer wearables and advanced imaging in evaluating ventricular ectopy and its evolving role in risk stratification for patients with MVP, even in the absence of overt symptoms. Full article

Background: Mitral annular disjunction (MAD), a mitral annular abnormality involving the whole mitral valve annulus circumference, commonly detected in individuals with mitral valve prolapse (MVP), has been recently recognized as a potential risk factor for malignant ventricular arrhythmias (VAs) and sudden cardiac death. Recent evidence indicates that a multimodality imaging assessment comprehensive of echocardiography, cardiac magnetic resonance (CMR), and cardiac computed tomography angiography (CCTA) may improve MAD detection. To date, no previous author has considered the potential influence of chest wall conformation on MAD presence. Considering the strong association between MVP and anterior chest wall deformities and the increased prevalence of MAD among MVP individuals, we have hypothesized that MAD presence might be more frequently detected among MVP individuals with a narrow anteroposterior (A-P) thoracic diameter and/or concave-shaped chest wall conformation, as noninvasively assessed by the modified Haller index (MHI). Methods: Herein, we present a case of MVP female with relevant MAD distance and moderate mitral regurgitation (MR) who underwent a diagnostic study comprehensive of transthoracic echocardiography, transesophageal echocardiography, CMR, CCTA, and exercise stress echocardiography. Results: The patient was found with a concave-shaped chest wall conformation (MHI > 2.5) and narrow A-P thoracic diameter (<13.5 cm), with a moderate and non-hemodynamically significant MR, without areas of LGE on CMR and with low arrhythmic profile. Conclusions: A preliminary chest shape assessment by the MHI might improve the prognostic risk stratification of MVP patients with MAD, potentially identifying a benign phenotype of MVP individuals, i.e., those with a narrow A-P thoracic diameter. Full article

Background: Over the last two decades, a number of imaging studies have evaluated the characteristics and clinical implications of mitral annular disjunction (MAD) among patients with mitral valve prolapse (MVP). The present systematic review has been primarily designed to summarize the main findings of these studies and to examine the overall impact of MAD in MVP patients. Methods: All imaging studies assessing the prevalence, pathophysiological role and determinants of MAD in MVP individuals, selected from the PubMed and EMBASE databases, were included. There was no limitation in terms of time period. The risk of bias was assessed by using the National Institutes of Health (NIH) Quality Assessment Tool for Observational Cohort and Cross-Sectional Studies. Results: The full texts of 23 studies on 7718 MVP individuals were analyzed. The overall pooled prevalence of MAD in MVP individuals was 40% (range 5.4–90%). When considering the different imaging modalities for assessing MAD, the average MAD prevalence was 20% for cardiac computed tomography studies, 31.3% for transthoracic echocardiography (TTE) studies, 44.7% for transesophageal echocardiography studies and 47% for cardiac magnetic resonance studies. MAD presence was more commonly associated with female sex, young age, narrow antero-posterior thoracic diameter, symptoms of palpitations and syncope, T-wave inversion in inferolateral leads and frequent and/or complex ventricular arrhythmias (VAs) on electrocardiogram, myxomatous leaflets, bileaflet prolapse, larger mitral valve annulus and non-severe mitral regurgitation on TTE. A total of 12 studies (52.2%) provided follow-up data. Over a median follow-up time of 3.9 yrs (range 1–10.3 yrs), MVP individuals with MAD showed increased risk of clinical arrhythmic events, no difference in survival rate and good surgical outcomes. Conclusions: MAD was present in more than one-third of MVP patients, with a wide range of variability depending on the specific imaging method used for assessing MAD presence and on a nonunivocal MAD definition, with a possible overestimation due to Pseudo-MAD rather than True-MAD measurement. A multimodality imaging approach comprehensive of noninvasive chest shape assessment might improve MAD detection among MVP individuals. It appears that careful serial monitoring for VAs should be mandatory for MAD patients. Full article

Mitral valve prolapse (MVP) affects 2–3% of the general population, and despite its benign prognosis overall, it is associated with sudden death in a small subset of patients. The term “arrhythmic MVP syndrome” (AMVPS) refers to the presence of frequent or complex ventricular arrhythmias, commonly reported in female patients with a stereotypical phenotype including bileaflet myxomatous disease, ECG repolarisation abnormalities in inferior leads, mitral annular disjunction, and significant fibrosis in the inferolateral LV and papillary muscles. Modern imaging technologies have led to the identification of new risk factors that have been implemented in recent risk stratification guidelines; however, screening for patients with MVP who are at risk of sudden cardiac death (SCD) remains challenging. In addition, there is a limited amount of data on the outcomes of different treatment approaches in AMVP and no specific indication for targeted or disease-modifying therapies within current guidelines. Potential arrhythmic substrates in patients with AMVP syndrome have been the subject of interest in previous studies, with areas consisting of fibrosis at the papillary muscle level and the Purkinje system. Premature ventricular contractions (PVCs) originating from these areas have been shown to play an important role as triggers for ventricular fibrillation and SCD in patients with AMVP. Catheter ablation has emerged as a potential treatment modality in patients with MVP and ventricular arrhythmias (VAs), targeting arrhythmic substrates and triggering PVC foci. The aim of this review is to explore the role of catheter ablation in treating patients with AMVP. Full article

Background: Mitral valve prolapse (MVP) and mitral annular disjunction (MAD) are common valvular abnormalities that have been associated with ventricular arrhythmias (VA). Cardiac magnetic resonance imaging (CMR) has a key role in risk stratification of VA, including assessment of late gadolinium enhancement (LGE). Methods: Single-center retrospective analysis of patients with MVP or MAD who had >1 CMR and >1 24 h Holter registration available. Data are presented in detail, including evolution of VA and presence of LGE over time. Results: A total of twelve patients had repeated CMR and Holter registrations available, of which in four (33%) patients, it was conducted before and after minimal invasive mitral valve repair (MVR). After a median of 4.7 years, four out of eight (50%) patients without surgical intervention had new areas of LGE. New LGE was observed in the papillary muscles and the mid to basal inferolateral wall. In four patients, presenting with syncope or high-risk non-sustained ventricular tachycardia (VT), programmed ventricular stimulation was performed and in two (50%), sustained monomorphic VT was easily inducible. In two patients who underwent MVR, new LGE was observed in the basal inferolateral wall of which one presented with an increased burden of VA. Conclusions: In patients with MVP and MAD, repeat CMR may show new LGE in a small subset of patients, even shortly after MVR. A subgroup of patients who presented with an increase in VA burden showed new LGE upon repeat CMR. VA in patients with MVP and MAD are part of a heterogeneous spectrum that requires further investigation to establish risk stratification strategies. Full article

Mitral valve prolapse (MVP) is a prevalent cardiac disorder that impacts approximately 2% to 3% of the overall population. While most patients experience a benign clinical course, there is evidence suggesting that a subgroup of MVP patients face an increased risk of sudden cardiac death (SCD). Although a conclusive causal link between MVP and SCD remains to be firmly established, various factors have been associated with arrhythmic mitral valve prolapse (AMVP). This study aims to provide a comprehensive review encompassing the historical background, epidemiology, pathology, clinical manifestations, electrocardiogram (ECG) findings, and treatment of AMVP patients. A key focus is on utilizing multimodal imaging techniques to accurately diagnose AMVP and to highlight the role of mitral annular disjunction (MAD) in AMVP. Full article