Search Results (122)

Background: Reintervention after mitral valve repair represents a relevant clinical challenge, yet the mechanisms and timing of repair failure remain incompletely defined. Understanding how the interval between index repair and reoperation affects failure mechanisms and the feasibility of repeat repair may help refine surgical strategies. Methods: We retrospectively analyzed 194 patients undergoing repeat mitral valve surgery between 2010 and 2025 after prior repair. Median age was 70 years and 61.3% were male. Patients were stratified by time to reoperation: 0–5 years (n = 91), 6–10 years (n = 42), and >10 years (n = 61). Median left ventricular ejection fraction was 58%, atrial fibrillation prevalence 32.5%, minimally invasive approach 21.6%, and EuroSCORE II 4.8%. Results: Baseline characteristics and operative risk were comparable across groups. However, mechanisms of repair failure differed significantly. Early failures were more commonly due to recurrent leaflet prolapse (47.8%), whereas late failures showed a higher incidence of mitral stenosis (63.9%). The rate of repeat mitral repair decreased over time, being higher in early failures compared with intermediate and late failures (17.6% vs. 14.3% vs. 8.2%). Conclusions: Timing of mitral repair failure is associated with distinct mechanisms and influences surgical management. Early failures are more frequently related to prolapse recurrence and are more amenable to re-repair, whereas late failures are characterized by structural degeneration and more often require valve replacement. Full article

Mitral valve prolapse represents the most common cause of primary mitral regurgitation in Western countries and has traditionally been viewed as a disorder driven by valvular incompetence and chronic volume overload. Within this paradigm, left ventricular enlargement was expected to correlate with regurgitant severity. However, patients with myxomatous bileaflet prolapse often exhibit left ventricular dilatation disproportionate to the degree of regurgitation, leading to the hypothesis of an intrinsic myocardial disease process. Cardiovascular magnetic resonance imaging has challenged this concept through the identification of doming volume, a previously unrecognized systolic blood compartment located between the mitral annular plane and the ventricular surface of prolapsing leaflets. This volume is mechanically coupled to ventricular contraction and contributes to total ventricular volume load independently of transvalvular regurgitation. Recognition of doming volume provides a physiological explanation for excessive ventricular remodeling observed in bileaflet prolapse and Barlow disease. Doming volume has important implications for imaging assessment. Its common exclusion from echocardiographic volumetric measurements may result in underestimation of left ventricular end-systolic volume, overestimation of ejection fraction, and underestimation of regurgitant burden, contributing to discordance between echocardiographic and cardiovascular magnetic resonance-derived measurements. Cardiovascular magnetic resonance enables comprehensive assessment, allowing accurate quantification of ventricular volumes, mitral regurgitation severity, doming volume, and myocardial tissue characteristics. Integration of doming volume into the evaluation of mitral valve prolapse improves physiological consistency between imaging findings and ventricular remodeling. However, further evidence is required before doming volume assessment can be incorporated into operative clinical indications or decision-making thresholds. Full article

Background/Objectives: Cardiovascular manifestations in pediatric Marfan syndrome (MFS) exhibit substantial heterogeneity. Early identification of patients at elevated risk of requiring cardiac surgery is essential to optimizing outcomes. This study aimed to determine phenotypic features associated with cardiovascular surgery in genetically confirmed pediatric MFS. Methods: Among the 1006 children evaluated, 214 with genetically verified MFS were included in the analysis. We categorized patients by the presence or absence of cardiac surgery during childhood. Systemic and cardiovascular features were assessed. We applied binary logistic regression to identify independent associated manifestations with surgical intervention. Results: 20/214 patients (9.3%, 11.5 ± 5.5 years) underwent cardiac surgery (50% aortic root replacement, 20% mitral valve surgery, 30% combined interventions). Extracardiac features—Marfan-type facial features, pectus carinatum, pes planus, hindfoot deformity, and myopia of ≥3 diopters—were significantly associated with an increased probability of surgery (OR 3.0–4.6). Tricuspid valve prolapse and pulmonary artery dilatation were more prevalent in surgical patients. Surgical patients exhibited higher systemic manifestation scores (9.2 vs. 5.2; p ≤ 0.05) per revised Ghent criteria (RGC). Conclusions: A higher systemic score (RGC) correlates with increased risk for surgery. Marfan-type facial features, pectus carinatum, pes planus, hindfoot deformity, and myopia ≥ 3 diopters were strongly associated with the need for early cardiac surgery. Comprehensive phenotypic assessment, including systemic manifestation scoring, enables risk stratification and supports timely surgical planning in pediatric MFS. Full article

The presence and impact of tricuspid valve (TV) prolapse in patients with mitral valve (MV) prolapse and severe mitral regurgitation (MR) have not been widely reported. The aim of our study was to describe the prevalence of TV prolapse, and the associated echocardiography features, in a large cohort of patients with MV prolapse undergoing surgery, and to explore its potential clinical impact. A total of 803 patients were included, of which 87 (11%) were diagnosed with TV prolapse, while 716 (89%) patients showed no TV prolapse. Patients with TV prolapse were more often diagnosed with Barlow’s disease compared to patients without TV prolapse, and also had more frequently significant TR, a larger right chamber size and TV annulus; they also underwent concomitant TV annuloplasty more often. During follow-up, there was no difference in terms of TR progression or all-cause mortality after surgery between the patients with or without TV prolapse. In conclusion, TV prolapse was associated with a more severe phenotype in terms of baseline cardiac remodeling and TR severity in our large study cohort of MV prolapse patients undergoing MV repair. However, when successfully treated, TV prolapse was not associated with worse outcomes after surgery, also in terms of TR progression. Full article

Background: Relative apical sparing of longitudinal strain is widely used as a diagnostic marker of cardiac amyloidosis. However, similar deformation patterns have been reported in other cardiac diseases, raising concerns regarding disease specificity. A comprehensive multimodality synthesis of the relative apical sparing pattern (RASP) across disease entities is lacking. Methods: A systematic review and meta-analysis were conducted according to PRISMA guidelines. PubMed, Scopus, and EMBASE were searched through December 2025 for studies reporting RASP or regional longitudinal strain values allowing standardized RASP calculation. Cardiac amyloidosis and major phenocopies—including aortic stenosis, hypertrophic cardiomyopathy, hypertensive heart disease, Fabry disease, mitral valve prolapse, and other cardiomyopathies—were included. Random-effects models were used to compare cardiac amyloidosis with non-amyloid conditions using standardized mean differences (SMDs), with subgroup analyses according to imaging modality (two-dimensional speckle-tracking echocardiography [2D-STE] versus cardiac magnetic resonance feature tracking [CMR-FT]). Results: Fourteen studies (nine 2D-STE and five CMR-FT) were included in the quantitative synthesis. Overall, cardiac amyloidosis was associated with significantly higher RASP compared with non-amyloid conditions (SMD 0.676, 95% CI 0.493–0.860; p < 0.001), with substantial heterogeneity (I² = 96.9%). Modality-stratified analyses showed a very large pooled effect for 2D-STE (SMD 2.152, 95% CI 1.354–2.950; I² = 97.6%) and a moderate, homogeneous effect for CMR-FT (SMD 0.594, 95% CI 0.405–0.782; I² = 0%). Sensitivity analyses confirmed robustness. No significant publication bias was detected by Egger’s test. Conclusions: Relative apical sparing is not specific to cardiac amyloidosis but is most pronounced in this condition. Its diagnostic magnitude varies across modalities and clinical contexts, supporting a multiparametric, modality-specific interpretation. 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

Background/Objectives: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder driven by mutations in the NF1 gene, whose pathogenesis centers on the loss of neurofibromin function and subsequent hyperactivation of the RAS/MAPK pathway. Notably, to the best of our knowledge and following a systematic literature search conducted by our research team, no cases of NF1 complicated by severe cardiac structural abnormalities that ultimately lead to cerebral infarction have been reported to date. Thus, it is of paramount importance to avoid missed diagnosis by performing comprehensive cardiac-related examinations in patients with NF1. Case Presentation: A 20-year-old male patient diagnosed with NF1 presented with right-sided limb weakness and was initially identified with cerebral infarction. To clarify the underlying etiology, a comprehensive clinical evaluation was performed, including cardiac imaging assessments (to characterize cardiac structural changes) and whole-exome sequencing (to identify the presence of procoagulant gene mutations). Comprehensive evaluation revealed a spectrum of cardiac structural abnormalities in the patient: aortic valve prolapse with severe regurgitation, non-infective vegetations on the aortic valve leaflets, mild-to-moderate mitral regurgitation, left ventricular hypertrophy and dilation, and left atrial dilation. Whole-exome sequencing detected exclusively a pathogenic variant in the NF1 gene, with no other pathogenic/likely pathogenic variants or thrombophilia-associated polymorphisms being found. Laboratory investigations ruled out infectious etiologies, supporting the notion that NF1-mediated cardiac structural and developmental anomalies are the primary driver of cardiac vegetation formation, given the absence of other identified contributing factors; embolization of one such vegetation ultimately led to both splenic and cerebral infarction. Conclusions: This case emphasizes the necessity of implementing early and proactive cardiac evaluations in patients with NF1. Additionally, for NF1 individuals—particularly those presenting with suggestive vascular or cardiac symptoms—a comprehensive multifactorial assessment of thrombotic risk is critical. Collectively, maintaining clinical vigilance for cardiac abnormalities in NF1 patients and avoiding diagnostic oversight is essential to reduce life-threatening risks. 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

Pectus excavatum (PE) is the most frequent chest wall deformity, representing 65–95% of all cases, with an estimated prevalence of up to 1 in 300 births. Despite its frequency, it remains underrecognized in sports cardiology. PE results from sternal depression and narrowing of the anterior chest, which may lead to cardiac compression, impaired diastolic filling, and reduced stroke volume during exercise. Consequently, athletes with PE often present with cardiovascular symptoms such as exercise-induced dyspnoea, chest pain, palpitations, presyncope, or reduced physical fitness. Electrocardiographic changes, including right bundle branch block, axis deviation, atrial enlargement, T-wave inversion, QS complexes or Brugada phenocopies, are frequent and may mimic serious cardiovascular conditions, complicating pre-participation screening. Furthermore, PE is associated with potentially high-risk conditions including mitral valve prolapse, ventricular arrhythmias, and connective tissue disorders such as Marfan syndrome, which carry implications for sports eligibility and safety. Assessment of athletes with PE requires multimodal imaging (echocardiography, computed tomography, magnetic resonance), cardiopulmonary exercise testing, and exclusion of concomitant cardiovascular disease. Treatment strategies range from conservative approaches (physiotherapy, vacuum bell therapy) to surgical correction, most commonly with the Nuss procedure, which can improve cardiac function, exercise capacity, and quality of life. Management should involve shared decision making between clinicians, athletes, and families, weighing potential risks against athletic aspirations. Awareness of PE in sports cardiology is crucial, as it not only influences differential diagnosis and screening outcomes but also impacts career decisions and the psychological well-being of athletes. 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: 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 (MVP) is the most common valvular abnormality in the general population and has been linked to mitral regurgitation, arrhythmias, and sudden cardiac death. Its prevalence and prognostic significance in athletes remain uncertain, raising important questions for pre-participation screening, eligibility for competition, and long-term follow-up. Methods: We systematically searched PubMed, Scopus, and EMBASE databases from inception through August 2025 for original studies reporting MVP prevalence in athletes, diagnosed by echocardiography or pathological assessment. Data on study characteristics, diagnostic definitions, prevalence, arrhythmias, and outcomes were independently extracted by three reviewers. Methodological quality was appraised using the National Institutes of Health Quality Assessment Tool for Observational Cohort and Cross-Sectional Studies. Results: Twelve studies published between 1987 and 2024 met inclusion criteria, enrolling 19,463 athletes from diverse sports and competitive levels. A total of 407 MVP cases were identified, corresponding to a crude pooled prevalence of 2.4%. Prevalence estimates varied substantially (0.2–20%), reflecting heterogeneity in study populations and diagnostic definitions. When all studies were pooled using a random-effects model, the overall prevalence was 2.0% (95% CI 1.2–2.8%). A sensitivity analysis restricted to contemporary, unselected athletic cohorts yielded a prevalence of 1.1% (95% CI 0.4–1.9%), closely aligning with population-based estimates. Ventricular arrhythmias were more frequent than supraventricular arrhythmias, particularly in association with bileaflet prolapse, leaflet thickening, or significant mitral regurgitation. Most athletes were asymptomatic, and only one prospective study provided long-term follow-up, confirming a generally benign prognosis, though rare adverse events (atrial fibrillation, valve surgery) were documented. Conclusions: MVP is relatively uncommon in athletes and occurs at rates similar to the general population. In most cases, prognosis is favorable and should not preclude sports participation. Nonetheless, recognition of high-risk phenotypes with arrhythmogenic potential highlights the need for individualized evaluation and tailored surveillance strategies in sports cardiology practice. Full article

Objectives: To optimise surgical treatment of mitral valve disease (MVD), a better understanding of gender-based differences is required. In this study, we analyse the gender-based differences among patients undergoing mitral valve surgery. Methods: Between January 2019 and December 2024, 809 consecutive patients were admitted to our centre for surgery for MVD. We analysed the patient characteristics, surgical details, postoperative and short-term outcomes of these patients. Results: Females (31.8%) undergoing mitral valve (MV) surgery were older (p < 0.001). Females had a higher rate of atrial fibrillation (p < 0.001), Rheumatoid arthritis (RA) (p = 0.002) and malignancy (p = 0.030). Furthermore, females were more often admitted to the intensive care unit (ICU) preoperatively (p = 0.037). Among these patients, 419 patients underwent isolated MV surgery. Furthermore, males underwent minimally invasive MV surgery more often (p = 0.004). Females had higher rates of combined MVD (p < 0.001) and combined MS (p < 0.001). Males had higher rates of severe mitral regurgitation (MR) (p = 0.041) and Left Atrium (LA) dilation (p = 0.004). Females exhibited higher rates of severe Tricuspid Regurgitation (TR) (p = 0.032) and pulmonary hypertension (p < 0.001). males had higher rates of posterior mitral leaflet (PML) prolapse (p < 0.001) and Flail leaflets (p < 0.001). Males underwent mitral valve repair (MVr) more often (p = 0.002). Early MACCE were reported in 5.1% of the patients. Freedom from major adverse cardiac and cerebrovascular events (MACCE) was comparable at 1 year and three years (p = 0.548). Prognosis and freedom from events were comparable between genders. Conclusions: Mitral valve disease presents differently across genders. There exist fundamental differences in the pathophysiological processes and presentation of mitral valve disease. Mitral valve surgery can be carried out with low mortality and morbidity rates irrespective of gender. Full article

Recent evidence demonstrates that mitral valve prolapse (MVP) increases mechanical stress on the subvalvular apparatus and is linked to regional myocardial fibrosis and life-threatening ventricular arrhythmias. However, current surgical guidelines do not account for the extent of myocardial fibrosis or the severity of leaflet involvement, both key features of arrhythmogenic MVP. To address this gap, we conducted histopathological analysis of endomyocardial biopsies from patients with MVP and regionalized myocardial fibrosis (n = 6) who underwent mitral valve repair. Using digital pathology-based quantitative image analysis (QIA), we found that fibrosis in peri-papillary biopsies exhibited a significantly higher Morphometric Composite Score compared with remote biopsies (5.68 ± 0.69 vs. 3.71 ± 0.49, p = 0.042), reflecting larger, more branched, and more assembled collagen fibers, indicative of a mature and persistent fibrotic phenotype. These findings suggest that myocardial scarring in MVP is well-established by the time of surgery and underscore the potential value of earlier surgical intervention to reduce the risk of arrhythmia and preserve post-operative left ventricular function. Full article