Search Results (99)

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

Intercellular interactions among cardiac cell populations are essential for cardiac morphogenesis, yet the molecular mechanisms orchestrating these events remain incompletely understood. Dachsous1 (Dchs1), an atypical cadherin linked to mitral valve prolapse, is a core planar cell polarity protein whose function in the developing heart has not been fully elucidated. To address this, we generated a Dchs1-HA knock-in mouse model to define its spatial, temporal, and cellular expression patterns. Using immunohistochemistry, western blotting, and single-cell transcriptomics across developmental stages, we demonstrate that cardiac Dchs1 expression is restricted to non-cardiomyocyte lineages. DCHS1 displays dynamic subcellular localization and tissue organization depending on the developmental timepoint, with staining being found in epicardial and endocardial surfaces at earlier embryonic stages and in the compact myocardium in later fetal and neonatal stages. During fetal and neonatal stages, DCHS1-positive non-myocyte, non-endothelial cells form polarized extensions that bridge endothelial and non-myocyte, non-endothelial cells, suggesting direct heterotypic and homotypic interactions. Western blotting revealed evidence of DCHS1 proteolytic cleavage, with intracellular C-terminal fragments. RNA co-expression with its binding partner FAT4 supports a conserved, non-myocyte-specific DCHS1-FAT4 signaling axis. These findings identify DCHS1 as a potential molecular tether that is utilized in intercellular communications during cardiac development, with implications for congenital and acquired heart disease. 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

Keratoconus is a progressive eye disease that results in thinning of the cornea, leading to visual impairment. Mitral valve prolapse (MVP) is a common disorder affecting around 2–4% of the general population. Previous studies have found an overrepresentation of MVP in individuals with keratoconus, with a prevalence of 38–65%, suggesting a shared underlying mechanism. In this case-control study, patients with keratoconus were enrolled from a quality and research registry. They were examined by a 2D echocardiography to identify if they had MVP, billowing or normal mitral leaflets. Controls were matched from the population-based Trøndelag Health Study. Patients and controls underwent a detailed echocardiographic examination to detect abnormal mitral valves. We included 101 patients (age 33 [IQR 29–40], 75% male) with keratoconus and 101 matched individuals. MVP was found in 2 (2%), while billowing was found in 5 (5%) of keratoconus patients. No significant association was found between keratoconus and the prevalence of MVP or billowing compared to the control group. Moreover, no associations were found between severity of keratoconus with presence of MVP nor with billowing of the mitral valves. We could not confirm the previously reported association between keratoconus and MVP, suggesting that routine screening for MVP in keratoconus patients may not be warranted. However, we cannot rule out the possibility of an association in other gender, age and ethnic groups different than ours. Full article

Marfan syndrome (MFS) is a genetic disorder affecting connective tissue, often leading to cardiovascular complications such as aortic aneurysms and mitral valve prolapse. Cardiovascular multimodality imaging plays a crucial role in the diagnosis, monitoring, and management of MFS patients. This review explores the advancements in echocardiography, cardiovascular magnetic resonance (CMR), cardiac computed tomography (CCT), and nuclear medicine techniques in MFS. Echocardiography remains the first-line tool, essential for assessing aortic root, mitral valve abnormalities, and cardiac function. CMR provides detailed anatomical and functional assessments without radiation exposure, making it ideal for long-term follow-up. CT offers high-resolution imaging of the aorta, crucial for surgical planning, despite its ionizing radiation. Emerging nuclear medicine techniques, though less common, show promise in evaluating myocardial involvement and inflammatory conditions. This review underscores the importance of a comprehensive imaging approach to improve outcomes and guide interventions in MFS patients. It also introduces novel aspects of multimodality approaches, emphasizing their impact on early detection and management of cardiovascular complications in MFS. Full article

Pectus excavatum (PE) can be associated with either congenital or acquired heart disease. This study highlights the importance of PE surgical repair in cases of severe chest depression on the heart in underlying cardiac diseases exacerbating cardiopulmonary impairment. From January 2023 to March 2024, four male patients underwent PE repair, having heart disease including pericarditis, mitral valve prolapse, ventricular fibrillation arrest and type 1 second-degree atrioventricular block. PE severity was determined by the Haller index (HI). Preoperative assessment included a pulmonary function test, chest computed tomography and cardiac evaluation. The Nuss procedure was performed in three patients, whereas, in one patient, it was performed in combination with a modified Ravitch procedure. The median HI was five. The median time of chest tube removal was 6.5 days. Postoperative complications were prolonged air leak, atrial fibrillation and atelectasis. The median length of hospital stay was 19.5 days, and no 30-day postoperative mortality was recorded. In all patients, surgical repair helped to resolve the underlying cardiological issues, and surgical follow-ups were deemed regular. PE is generally an isolated congenital chest wall abnormality, and, when associated with a heart disease, it can have severe life-threatening hemodynamic consequences due to mechanical compression on the heart for which surgical corrections should be considered. Full article

Cardiovascular diseases are some of the underlying reasons contributing to the relentless rise in mortality rates across the globe. In this regard, there is a genuine need to integrate advanced technologies into the medical realm to detect such diseases accurately. Moreover, numerous academic studies have been published using AI-based methodologies because of their enhanced accuracy in detecting heart conditions. This research extensively delineates the different heart conditions, e.g., coronary artery disease, arrhythmia, atherosclerosis, mitral valve prolapse/mitral regurgitation, and myocardial infarction, and their underlying reasons and symptoms and subsequently introduces AI-based detection methodologies for precisely classifying such diseases. The review shows that the incorporation of artificial intelligence in detecting heart diseases exhibits enhanced accuracies along with a plethora of other benefits, like improved diagnostic accuracy, early detection and prevention, reduction in diagnostic errors, faster diagnosis, personalized treatment schedules, optimized monitoring and predictive analysis, improved efficiency, and scalability. Furthermore, the review also indicates the conspicuous disparities between the results generated by previous algorithms and the latest ones, paving the way for medical researchers to ascertain the accuracy of these results through comparative analysis with the practical conditions of patients. In conclusion, AI in heart disease detection holds paramount significance and transformative potential to greatly enhance patient outcomes, mitigate healthcare expenditure, and amplify the speed of diagnosis. Full article

Background: The ”respect” approach to surgical mitral valve repair, which involves implanting artificial neochordae, is gaining increased adoption. Surgeons are possibly prone to error in the manual construction of neochordae, which can lead to prolonged cross-clamp times. Novel systems such as Chord-X Pre-Measured Loops (On-X Life Technologies, Inc., Austin, TX, USA) eliminate the need for manual neochordae construction, potentially simplifying the mitral repair procedure. However, clinical data on its use are currently limited to a small publication. Methods: We conducted a retrospective cohort study to evaluate the use of Chord-X loops in 40 consecutive patients who underwent surgery in Geelong, Victoria, Australia, between May 2020 and February 2024. Three surgeons participated in this study. Results: All patients were referred for severe mitral valve regurgitation secondary to myxomatous degeneration, with P2 prolapse being the most common pathology. Chord-X Pre-Measured Loops effectively corrected a variety of leaflet pathologies, including bi-leaflet disease, with a single set of loops sufficing in most patients. Intraoperative and follow-up echocardiographic assessments revealed no greater than mild mitral regurgitation in any patient, with 75% exhibiting no or trace mitral regurgitation. Conclusions: The Chord-X Pre-Measured Loops system demonstrated safety, efficacy, and reproducibility across all patients. Surgeons were able to easily adopt this technology without requiring additional training. We believe this technology offers a safe option for surgeons performing low-volume mitral repair surgeries. Full article

Objective: As percutaneous mitral valve techniques become more prevalent, it is important to evaluate the contemporary outcomes of surgical mitral valve interventions. This study assessed the current results and procedural trends of mitral valve surgery for degenerative mitral regurgitation (DMR) at a regional tertiary care center. Methods: Data were analyzed from 693 consecutive DMR patients who underwent isolated mitral valve operations, with or without tricuspid valve repair and atrial fibrillation ablation between 2017 and 2024. The outcomes were defined according to MVARC criteria. The study endpoints included successful mitral valve repair, in-hospital results, and operative and long-term mortality. Logistic regression was applied to assess the impact of valve lesions and patient risk factors on the probability of valve repair. Survival was analyzed using Kaplan–Meier methodology. The follow up was 100% complete. Results: Mitral valve repair was performed in 90.9% of cases, with only 0.9% requiring the conversion to replacement due to unsuccessful repair. Posterior leaflet lesions had the highest success rate (93.4%), while anterior leaflet lesions had a lower rate (86.2%), with anterior pathology being a negative predictor of repair (OR 2.57, p = 0.02). The type of lesion (prolapse vs. flail), the commissural involvement, and the increased risk for SAM had no statistically significant impact on valve repair outcome. Less invasive transaxillary access was used in 63.2% of patients, and its adoption increased significantly (from 50.9% to 67.4% p = 0.03) over time, resulting in more frequent fast-track extubation and home discharges. The rate of in-hospital mortality was 0.6%, while the rate of 5-year survival was 95.5%. Conclusions: Contemporary surgical techniques for DMR lead to high repair rates and excellent recovery outcomes. Despite the rise in transcatheter options, our findings confirm that surgery remains the gold standard for most DMR patients. Full article

Objectives: Exercise-induced premature ventricular contractions (EIPVC) have been associated with higher mortality, but the association with coronary artery disease (CAD) has not been precisely established. Our objective was to assess in a group of subjects with EIPVC and cardiovascular risk factors the association with underlying significant coronary artery disease (CAD), in comparison with a control group of patients with cardiovascular risk factors and exercise test (ET) showing ischaemia. Methods: All the patients (above 35 years old) referred for ET at our institution were prospectively included. Patients with at least one cardiovascular risk factor and without known CAD were divided into 2 groups: group A if EIPVC were present (either during exercise or during recovery), at least more than 10% over 30 s of recording; group B if ET was showing ischaemia. The presence of CAD was then confirmed in both groups by coronary arteriography, and/or thallium scintigraphy, and/or cardiac MRI and/or coronary CT angiography performed within 2 months after ET realization. Results: From November 2020 to December 2022, 4098 ETs were performed. After exclusion (normal ETs = 2194; known CAD = 1109; age < 35 years old = 487; congenital heart disease = 59; mitral valve prolapse = 4), 46 patients with EIPVC were finally identified (male 65%, mean age 61.5 ± 11 years), and 71 in group B. CAD was confirmed using additional tests in 5/46 (11%) patients in group A versus 38/71 (54%) in group B (p < 0.0001). Conclusions: Amongst patients without known CAD, the presence of EIPVC was less frequently associated with an underlying CAD, compared to the presence of exercise-induced “electrical” ischaemia. Full article

GATA6 syndrome is a rare monogenic disorder caused by heterozygous variants in the gene GATA6, which controls the early embryonic differentiation of germ layers and the development of different organs. We present the results of the 7-year follow-up of a child with this syndrome as well as the following conditions: diabetes mellitus, exocrine pancreatic insufficiency, gallbladder atresia, and congenital heart disease (CHD). At birth, the patient was diagnosed with neonatal diabetes mellitus (NDM) associated with heart (mitral valve prolapse) and gastrointestinal abnormalities (gallbladder atresia). Diabetes remitted within weeks and relapsed at the age of 2. We identified a de novo variant of a 4-nucleotide deletion (c.1302+4_1302+7del), previously unreported in the literature, in the donor splicing site of exon 3 of the GATA6 gene in a heterozygous state. Screening for other possible components of GATA6 syndrome revealed exocrine pancreatic insufficiency, and pancreatic enzyme replacement therapy resulted in improved dyspeptic symptoms, and growth rates increased. In addition, the patient was diagnosed with autoimmune thyroiditis and progressive myopia. Full article

Background: During the last decades, a small number of studies reported a wide range of variability in the estimated prevalence of mitral valve prolapse (MVP) among individuals with pectus excavatum (PE). The present systematic review and meta-analysis has been primarily designed to summarize the main findings of these studies and to estimate the overall prevalence of MVP among PE individuals. Methods: All imaging studies assessing the prevalence of MVP in PE individuals vs. healthy controls, selected from PubMed and EMBASE databases, were included. The risk of bias was assessed by using the National Institutes of Health (NIH) Quality Assessment of Case–Control Studies. Events (presence of MVP) and nonevents (absence of MVP) in PE individuals and control groups were recorded. The main outcome was the measure of odds ratio (OR) for MVP presence pooled with 95% confidence intervals, using a fixed-effects model. Results: The full texts of eight studies with 303 PE patients (mean age 25.7 yrs) and 498 healthy controls (mean age 31 yrs) were analyzed. Three studies assessed MVP prevalence in children and early adolescents, whereas the remaining five studies examined PE adults. The prevalence of MVP in PE individuals and healthy controls was 40.6% and 12.8%, respectively. In the pooled sample, the OR for MVP presence was significantly higher in PE individuals compared to controls (OR = 5.80, 95%CI = 3.83–8.78, Z = 8.30, p < 0.001). Subgroup analysis revealed that MVP prevalence was approximately three-fold higher among PE children and early adolescents compared with PE adults. Overall, high consistency was observed in the pooled effect sizes, due to the low statistical heterogeneity among the included studies (I² = 22.7%, p = 0.25). Egger’s test for a regression intercept gave a p-value of 0.07, indicating no publication bias. The sensitivity analysis supported the robustness of the results. Conclusions: PE individuals are nearly six times more likely to have MVP than controls. MVP prevalence is three-fold higher in PE individuals during childhood and early adolescence, compared to PE adults. Given the strong association between MVP and PE, MVP should be suspected in all individuals with anterior chest wall deformity. Full article

Background/Objectives: Minimally invasive techniques for mitral valve repair have evolved over the past thirty years and include mini-thoracotomies and the robotic platform. This study provides a historical perspective on minimally invasive mitral valve approaches and evaluates long-term outcomes of a large series of robotic mitral valve repairs. Methods: A single-institution, prospectively maintained registry was used to evaluate robotic mitral valve repairs performed by four surgeons from 2005 to 2023. There were 1412 robotic mitral valve repairs performed during this time and stratified by the first 120 and subsequent patients. We evaluated operative outcomes and freedom from more than 2+ mitral regurgitation at five years as well as ten-year survival. Results: Of the 1412 robotic mitral valve repairs performed, 93.6% (n = 1322) were for degenerative disease. Compared to the first 120 patients, the subsequent patients had a significant reduction in cross-clamp time (112 (IQR = 103–130) versus 75 (IQR = 65–88) min) and cardiopulmonary bypass time (153.5 (IQR = 134.5–177.5) versus 116 (IQR = 103–136) min), and all with p < 0.01. The majority of patients had posterior leaflet prolapse (65.6%, n = 926). The repair rate was 98.1%, n = 1385. Survival at ten-year follow-up for the patients included in the first 120 procedures was 91.5% (95% confidence interval (CI) = 86.4–96.6%) versus 92.8% (95% CI = 91.7–93.9%) for the patients who were in the latter group, p = 0.58. Freedom from >2+ mitral regurgitation at 5 years was 97.0% (95% CI = 95.3–98.7%) for the patients in the first 120 procedures and 92.7% (95% CI = 91.5–93.9%), p = 0.22, for those in the latter group. Conclusions: The robotic platform offers an excellent durable repair for mitral regurgitation in our experience of over 1400 patients. The robotic platform for mitral valve repair offers a teachable and safe approach to mitral valve disease for patients. Full article

Background: Over the last five decades, a fair number of echocardiographic studies have evaluated the prevalence of mitral valve prolapse (MVP) in various cohorts of individuals, including heterogeneous study populations. The present systematic review has been primarily designed to summarize the main findings of these studies and to estimate the overall MVP prevalence in the general community. Methods: All echocardiographic studies assessing the MVP prevalence in various cohorts of individuals, selected from PubMed and EMBASE databases, were included. There was no limitation 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 21 studies with 1354 MVP individuals out of 63,723 participants were analyzed. The overall pooled prevalence of MVP was 4.9% (range of 0.6–21%). When dividing the studies in two groups according to the echocardiographic criteria used for MVP diagnosis (less specific old criteria or more specific new criteria, respectively), the estimated pooled prevalence of MVP was 7.8% (range of 2–21%) for the older studies (performed between 1976 and 1998) and 2.2% (range of 0.6–4.2%) for the more recent ones (conducted between 1999 and 2021). Potential selection bias, hospital- or referral-based series, and the use of less specific echocardiographic criteria for MVP diagnosis have been indicated as the main reasons for the higher MVP prevalence detected by the older studies. MVP was commonly associated with a narrow antero-posterior thoracic diameter, isolated ventricular premature beats and nonspecific ST-T-wave abnormalities on a resting electrocardiogram, mild-to-moderate mitral regurgitation (MR), the reduced probability of obstructive coronary artery disease, and a low frequency of serious complications, such as severe MR, infective endocarditis, heart failure, stroke, and atrial fibrillation. Conclusions: MVP has a low prevalence in the general population, regardless of age, gender, and ethnicity, and is associated with a good outcome. Full article