Frequent Premature Ventricular Contractions Research Articles

The genetic architecture of exercise-induced ventricular ectopy

Abstract Background Previously, we have shown that the frequency of exercise-induced premature ventricular contractions (PVCs) during and after exercise are associated with increased risk of major adverse cardiovascular events in asymptomatic individuals from the UK Biobank study1. The underlying mechanisms are, however, unclear. Several electrocardiographic markers associated with arrhythmogenesis have a known hereditary component, but the genetic underpinnings of exercise-induced ventricular ectopy have not been investigated. Purpose Our aim was to explore the genetic basis of premature ventricular ectopy during and after exercise and unveil plausible candidate genes and biological mechanisms. Methods We conducted a genome-wide association study (GWAS) for PVC frequency during exercise and recovery in >44,000 asymptomatic individuals of European ancestry without known cardiovascular disease from the UK Biobank study. As the distribution of PVC frequency is highly skewed (e.g. absence of negative values and excess of zero values), we first applied Gaussian transformation. Simulation studies were performed to justify that this approach would lead to valid inference. In the GWAS model, we included sex, age, UK Biobank genotyping array, and the first 10 genetic principal components as covariates. Statistical power was boosted by joint analysis of exercise and recovery PVC traits using multi-trait analysis of GWAS (MTAG)2. Genetic risk scores were constructed in independent samples from UK Biobank (N=341,948) and were tested for association with heart failure and life-threatening ventricular arrhythmias. Results We identified 4 loci for PVC frequency during exercise, and 1 locus for PVC frequency during recovery (Picture 1). Candidate genes included CRIM1, FLNC, and BAG3 for which mutations have been linked in the pathogenesis of (arrhythmogenic) cardiomyopathy. Subjects in the top 10% of the genetic risk scores had a significantly higher risk of heart failure and life-threatening ventricular arrhythmias compared to the bottom 90%, (odds ratio (OR) (95% confidence interval): 1.14 (1.08 – 1.20), p < 0.001; and 1.13 (1.02 – 1.24), p < 0.001, respectively). Conclusions Ventricular ectopic burdens during exercise and recovery have a significant heritable component. Candidate genes highlight a possible shared genetic background with inherited cardiomyopathy and a genetic risk score was associated with heart failure and ventricular arrhythmias. These findings substantial advance our understanding of the genetic basis of exercise-induced ventricular ectopy in a population-based cohort without cardiovascular disease.Miami plot of ventricular ectopic burden

Efficacy and safety of catheter ablation for idiopathic premature ventricular contraction in Japan: from the nationwide Japan Catheter Ablation Registry

Abstract Introduction Catheter ablation (CA) is a viable approach for managing frequent idiopathic premature ventricular contractions (PVCs) associated with PVC-related cardiomyopathy. However, the real-world outcomes and appropriate indications for CA need further clarification. Methods This is the first nationwide analysis focusing on the efficacy and safety of CA of idiopathic PVCs. We analyzed 6,751 patients (age 58 [45-70], 3,265 males [48.4%]) who underwent their first CA for idiopathic PVCs with a single origin (3,849 right ventricular [RV] outflow tract [OT], 614 other RV, 1,517 in left ventricular [LV]-OT, and 771 in other LV), based on the Japanese Catheter Ablation Registry between August 2017 and December 2020. Results Success at discharge (SAD) was achieved in 5,276 (78.1%) patients, while 238 patients experienced recurrence before discharge (4.3% of those with acute success). SAD was achieved in 3,236/3,849 (84.1%) RVOT, 379/614 (61.7%) other RV, 1,145/1,517 (75.5%) LVOT, and 516/771 (66.9%) other LV patients (P <0.001). Age <50 and females were independent predictors for SAD. Conversely, obesity, origins other than RVOT, and low-volume facilities were independently inversely related to SAD. 171 (2.5%) acute complications, including 125 cardiac tamponades (CTs) (1.9%), were reported. Age ≥60 and females were independent predictors for both total complications and CTs. Remarkably, females aged ≥80 with RVOT origins exhibited a 10.3% rate of CTs. Conclusion Female patients aged <50 with OT-PVC without obesity, demonstrated favorable efficacy. However, non-OT PVCs were independently inversely related to SAD. Special attention should be given to females aged ≥60 with RVOT origins.

Prevalence of frequent premature ventricular contractions and left-ventricular systolic dysfunction in patients receiving Holter monitoring.

Premature ventricular contractions (PVCs) are frequently observed with left ventricular (LV) systolic dysfunction, although the prevalence of these associated conditions in the general population remains unknown. We sought to understand the prevalence of frequent PVCs (defined PVCs > 5%) and high burden PVCs (defined PVCs > 10%) and LV systolic dysfunction in patients receiving ambulatory Holter monitors (HM). A prospective multicenter (eight US medical centers) cross-sectional study collected demographic and PVC burden data from consecutive patients undergoing 24-h, 48-h, and 14-day HM (July 2018-June 2020). Left ventricle ejection fraction (LVEF) data was collected if obtained within 6 months of HM. Four PVC burden groups were analyzed (<1%, 1%-5%, 5.1%-10%, and >10% burden) and stratified by normal LVEF (≥50%) or presence LVEF < 50%. The prevalence of PVC burden of 5.1%-10% and >10% was 4% and 5%, respectively in the population undergoing HM (n = 6529). Age was significantly different between PVC groups (p < .001). In those with LVEF assessment (n = 3713), the prevalence of LVEF < 50% and both LVEF < 50% and PVC > 5% was 16.4% and 4.2%, respectively. The prevalence of PVC > 5% and PVC > 10% in patients with LVEF < 50% was 26% and 16%, respectively. PVC > 5% were more prevalent in older, male, and Caucasians (p < .001). Females had a lower prevalence of PVC > 5% than males (6% vs. 11%; p < .001), but not among those with LVEF < 50% (24% vs. 26%, p = .10). PVC > 5% and PVC > 10% and LVEF < 50% are prevalent in patients undergoing HM. PVC > 5% are associated with older age. Females have a lower prevalence of PVC > 5% than males but similar combined PVC > 5% and LVEF < 50%. gov identifier: NCT03228823.

Assessment of palpitations in patients with frequent premature ventricular contractions.

In patients with frequent premature ventricular contractions (PVCs), palpitations may not always be directly caused by PVCs, and therefore, it is essential to establish symptom-rhythm correlations to determine the appropriate treatment. This study aims to analyze the palpitations and related factors in patients with frequent PVCs. The study enrolled patients with frequent PVCs who were not combined with other arrhythmias or structural heart disease. Through face-to-face consultation, patients were divided into symptomatic and asymptomatic groups. For symptomatic patients, the correlation between palpitations and PVC was further evaluated based on the temporal consistency of symptom onset and PVC occurrence. The demographic, clinical, and electrocardiogram features of the patients in each group were compared. Of the 214 patients enrolled, 124(57.9%) experienced palpitations. Compared to the asymptomatic group, the symptomatic group had a higher proportion of females (63.7% vs. 47.8%; p = .020) and a higher proportion of subjects with anxiety (44.4% vs.14.4%; p = .000). Within the symptomatic patients, 72 (33.60%) who had palpitations that were clearly correlated with PVCs were classified as the PVC-relevant group. In this group, the PVC CI ratios were significantly lower (55% [52% -60%] vs. 62% [55% -67%]; p = .001) and the Post-PVC CI were longer (1170 [1027-1270] vs. 1083 [960-1180] ms; p = .018) than in the PVC-irrelevant group. A direct relationship between palpitations and PVCs could be established only in a minority of patients with frequent PVCs. PVCs with a relatively short PVC CI and a long post-PVC CI were more likely to cause palpitations, whereas palpitations lasting only a few seconds were more likely to be directly relevant to PVCs.

Arrhythmias May Hide a Genetic Cardiomyopathy in Left Ventricular Hypertrabeculation in Children: A Single-Center Experience.

Left ventricular hypertrabeculation (LVHT) is a myocardial disorder with different clinical manifestations, from total absence of symptoms to heart failure, arrhythmias, sudden cardiac death (SCD), and thromboembolic events. It is challenging to distinguish between the benign and pathological forms of LVHT. The aim of this study was to describe the arrhythmic manifestations of LVHT in a large group of pediatric patients and to correlate them with genetic results or other clinical markers. We retrospectively enrolled 140 pediatric patients with diagnosis of LVHT followed at our Institution from 2013 to 2023. Data regarding family history, instrumental exams, cardiac magnetic resonance, genetic testing and outcomes were collected. Most of them had isolated LVHT (80.7%); in other patients, mixed phenotypes (hypertrophic or dilated cardiomyopathy or congenital heart disease) were present. Arrhythmias were found in 33 children (23.6%): 13 (9.3%) supraventricular tachyarrhythmias; 14 (10%) ventricular arrhythmias (five frequent PVCs (premature ventricular contractions), eight patients with ventricular tachycardia (VT), one ventricular fibrillation (VF)); two (1.4%) sinus node disfunctions; two (1.4%) complete atrio-ventricular blocks (AVB), three (2.1%) paroxysmal complete AVB, one (0.7%) severe I degree AVB. Three patients received an ICD (implantable cardioverter defibrillator). Comparison between LVHT patients with (33 pts) and without (107 pts) arrhythmias as regards genetic testing showed a statistical significance for the presence of class 4 or 5 genetic variants and arrhythmic manifestation (p = 0.037). In our pediatric cohort with LVHT, good outcomes were observed, but arrhythmias were not so rare (23.6%); no SCD occurred.

Abstract Tu060: Unveiling Arrhythmogenic Right Ventricular Dysplasia In Pregnancy

Introduction: Arrhythmogenic right ventricular dysplasia (ARVD) is a rare autosomal dominant disease, caused by desmosomal gene mutations, and characterized by fibrofatty replacement of right ventricular (RV) myocardium with left ventricular (LV) involvement in advanced stages. It is mostly diagnosed between the second and forth decades of life and can present with ventricular tachycardia and arrhythmic sudden death. Here we present a case of ARVD diagnosis in a female in her forth pregnancy. Case description: A 28-year-old female, on her 27 th week of gestation (G4P3) was admitted to the hospital with preterm premature rupture of membranes. She also endorsed intermittent chest pressure, palpitations and shortness of breath. Her vital signs were stable, and electrocardiogram (ECG) revealed normal sinus rhythm with frequent premature ventricular contractions (PVCs) and T wave inversions in leads V1- V3. Laboratory studies showed normal troponin and D-dimer levels, and slightly elevated brain natriuretic peptide 240 pg/mL. Patient notably had frequent runs of monomorphic non-sustained ventricular tachycardia (NSVT) arising from RV apical territory, with left bundle branch morphology on telemetry. An echocardiogram revealed a dilated right atrium and RV with hypokinesis of RV; LV size and function were normal. Overall, patient met the revised task force diagnostic criteria for ARVD based on PVC morphology, abnormal ECG and dilated and hypokinetic RV. She had no sustained or hemodynamically unstable VT, no history of syncope or family history of sudden cardiac death and did not meet class I indication for implantable cardioverter defibrillator. She was started on oral metoprolol succinate 25 mg daily with which her arrhythmias significantly improved. She was recommended a cardiac magnetic resonance imaging and genetic testing for confirmation and to assess familial implications. Conclusion: Recognition of ARVD during pregnancy is challenging given the overlapping symptoms of normal pregnancy-related changes. Hormonal surge and sympathetic drive may have driven the increased frequency of NSVT in our patient and beta blocker was effective in managing these. Early recognition and tailored management are crucial to ensure the well-being of both the mother and the fetus. A close follow-up is necessary to understand the long-term implications for the patient and potential genetic predisposition in the family.

The application value of 24 h Holter monitoring indices in predicting MACEs outside the hospital within three years after PCI in patients with STEMI.

Evaluating cardiovascular risk in patients experiencing acute ST-elevation myocardial infarction (STEMI) and undergoing percutaneous coronary intervention (PCI) is crucial for early intervention and improving long-term outcomes. 24 h Holter monitoring provides continuous cardiac electrophysiological data, enabling the detection of arrhythmias and autonomic dysfunction that are not captured during routine examinations. This study aimed to examine the relationship between Holter monitoring metrics and the occurrence of out-of-hospital major adverse cardiovascular events (MACEs) following PCI in patients with STEMI, offering insights into cardiovascular risk evaluation. This prospective cohort study included STEMI patients undergoing PCI. 24 h Holter monitoring data were recorded, including heart rate, heart rate variability (HRV) metrics such as SDNN and SDANN index, heart rate deceleration capacity (DC) at different time scales (DC2, DC4, DC8), and the frequency of premature ventricular contractions (PVCs). Independent correlations between these indices and MACEs, as well as cardiovascular deaths, were investigated using multifactorial logistic regression. Predictive capacities were assessed through receiver operating characteristic (ROC) curves. A total of 172 participants were enrolled in this study. Over the 3-year follow-up period, MACEs were observed in 57 patients, including 20 cases of cardiac death. In logistic regression models adjusted for confounding variables, SDNN [OR: 0.980; 95% CI: (0.967, 0.994); p = 0.005] and SDANN index [OR: 0.982; 95% CI: (0.969, 0.996); p = 0.009] were negatively associated with the incidence of MACEs. Conversely, the slowest heart rate [OR: 1.075; 95% CI: (1.022, 1.131); p = 0.005] and frequent PVCs [OR: 2.685; 95% CI: (1.204, 5.987); p = 0.016] demonstrated a positive association with MACEs. Furthermore, SDNN [OR: 0.957; 95% CI: (0.933, 0.981); p = 0.001], DC [OR: 0. 702; 95% CI: (0.526, 0.938); p = 0.017]) and DC4 [OR: 0.020; 95% CI: (0.001, 0.664); p = 0.029] were negatively associated with cardiac death. The ROC analysis results indicated that SDNN was an effective predictor of both MACEs [AUC: 0.688 (95% CI: 0.601-0.776)] and cardiac death [AUC: 0.752 (95% CI: 0.625-0.879)]. HRV, DC metrics, and frequent PVCs obtained by 24 h Holter monitoring were associated with the risk of MACEs in STEMI patients. These metrics can help clinicians identify at-risk patients early so that timely interventions.

Evaluation of the effect of empagliflozin on prevention of atrial fibrillation after coronary artery bypass grafting: a double-blind, randomized, placebo-controlled trial.

This study is aimed at evaluating the effect of empagliflozin in preventing atrial fibrillation after coronary artery bypass grafting (CABG). Eighty-two patients who fulfilled the inclusion criteria were allocated to the empagliflozin group (n = 43) or placebo group (n = 39). In two groups, patients received empagliflozin or placebo tablets 3days before surgery and on the first three postoperative days (for 6days) in addition to the standard regimen during hospitalization. During the first 3days after surgery, types of arrhythmias after cardiac surgery, including supraventricular arrhythmias, especially postoperative atrial fibrillation (POAF), ventricular arrhythmias, and heart blocks, were assessed by electrocardiogram monitoring. C-reactive protein (CRP) levels were evaluated pre-operatively and postoperative on the third day. The incidence of POAF in the treatment group was lower compared to the control group; however, this reduction was statistically non-significant (p = 0.09). The frequency of ventricular tachycardia was reduced significantly in the treatment group versus patients in the control (p = 0.02). Also, a significant reduction in the frequency of premature ventricular contractions (PVCs) was seen in the treatment group in comparison with the control group (p = 0.001). After the intervention, CRP levels were significantly less in the empagliflozin group compared to the control group in the third postoperative day (p = 0.04). The prophylactic use of empagliflozin effectively reduced the incidence of ventricular arrhythmia in patients undergoing CABG surgery.

ECTOPIC trial: The efficacy of flEcainide Compared To metOprolol in reducing Premature ventrIcular Contractions: A randomized open-label crossover study in pediatric patients

BackgroundFrequent premature ventricular contractions (PVCs) in children are usually considered benign. Symptoms and/or left ventricular dysfunction are indications for treatment with anti-arrhythmic drugs (AAD). ObjectiveTo evaluate the efficacy of flecainide versus metoprolol in reducing PVCs in children. MethodsA randomized open label cross-over trial children with a PVC-burden of >15% on Holter; successively treated with metoprolol and flecainide or vice versa, with a drug free interval of at least two weeks. Holter measurements were repeated before and after the start of the AAD. ResultsSixty patients were screened, 19 patients could be included. Median age was 13.9 years (IQR 5.5 years). Mean baseline PVC-burden was 21.7% (N=18, SD±14.0) before the start of flecainide and 21.2% (N=17, SD±11.5) before the start of metoprolol. In a mixed model analysis the estimated mean reduction in PVC-burden was 10.6 percentage-points (95%-CI 5.8–15.3) for flecainide and 2.4 percentage-points (95%-CI -2.7–7.5) for metoprolol, with a significant difference of 8.2 percentage-points (95%-CI of 0.86–15.46, P=0.031). Exploratory analysis revealed that 9/18 patients treated with flecainide and 1/17 patients treated with metoprolol, had a reduction to a PVC-burden below 5%. No discriminating factors between flecainide-responders and non-responders were found; the mean plasma level was not significantly different (0.34 mg/L versus 0.52 mg/L, P=0.277). ConclusionsIn children with frequent PVCs flecainide led to a significant greater reduction of PVC-burden, compared to metoprolol. Flecainide was effective in only a subgroup of patients, which appears to be unrelated to the plasma level. (Dutch Trial Register number 26689).

Cardiac magnetic resonance reveals concealed structural heart disease in patients with frequent premature ventricular contractions and normal echocardiography: A systematic review

Premature ventricular contractions (PVCs) are a common form of arrhythmic events, often representing an idiopathic and benign condition without further therapeutic interventions. However, in certain circumstances PVCs may represent the epiphenomenon of a concealed structural heart disease (SHD). Surface 12‑leads EKG and 24-h dynamic EKG are necessary to assess their main characteristics such as site of origin, frequency and complexity. Echocardiography represents the first-line imaging tool recommended to evaluate cardiac structures and function. Cardiac Magnetic Resonance (CMR) is recognized as a superior modality for detecting structural cardiac alterations, that might evade detection by conventional echocardiography. Moreover, in specific populations such as athletes, CMR may have a crucial role to exclude a concealed SHD and the risk of serious arrhythmic events during sport activity. Some clinical characteristics such as male sex, older age or family history of sudden cardiac death (SCD) or cardiomyopathy, and some electrocardiographic features of PVCs, in particular a right branch bundle block (RBBB) with superior/intermediate axis morphology, the reproducibility of VAs during exercise test (ET) or the evidence of complex ventricular arrhythmias, may warrant a CMR evaluation, due to the high probability of SHD. In this systematic review our objective was to provide an exhaustive overview on the role of CMR in detecting a concealed SHD in patients with high daily burden of PVCs and a normal echocardiographic evaluation, paving the way for a more extensive utilization of CMR in presence of certain high-risk clinical and/or EKG features identified during the diagnostic workup.

Explainable localization of premature ventricular contraction using deep learning-based semantic segmentation of 12-lead electrocardiogram.

Predicting the origin of premature ventricular contraction (PVC) from the preoperative electrocardiogram (ECG) is important for catheter ablation therapies. We propose an explainable method that localizes PVC origin based on the semantic segmentation result of a 12-lead ECG using a deep neural network, considering suitable diagnosis support for clinical application. The deep learning-based semantic segmentation model was trained using 265 12-lead ECG recordings from 84 patients with frequent PVCs. The model classified each ECG sampling time into four categories: background (BG), sinus rhythm (SR), PVC originating from the left ventricular outflow tract (PVC-L), and PVC originating from the right ventricular outflow tract (PVC-R). Based on the ECG segmentation results, a rule-based algorithm classified ECG recordings into three categories: PVC-L, PVC-R, as well as Neutral, which is a group for the recordings requiring the physician's careful assessment before separating them into PVC-L and PVC-R. The proposed method was evaluated with a public dataset which was used in previous research. The evaluation of the proposed method achieved neutral rate, accuracy, sensitivity, specificity, F1-score, and area under the curve of 0.098, 0.932, 0.963, 0.882, 0.945, and 0.852 on a private dataset, and 0.284, 0.916, 0.912, 0.930, 0.943, and 0.848 on a public dataset, respectively. These quantitative results indicated that the proposed method outperformed almost all previous studies, although a significant number of recordings resulted in requiring the physician's assessment. The feasibility of explainable localization of premature ventricular contraction was demonstrated using deep learning-based semantic segmentation of 12-lead ECG.Clinical trial registration: M26-148-8.

Successful ablation of premature ventricular contractions originating from the posterior-superior process of the left ventricle approaching from the right atrium in a 13-year-old male.

This is a case of a 13-year-old male with frequent premature ventricular contractions with QRS configurations of the left superior axis and left bundle branch block, which originated from the posterior-superior process of the left ventricle. Premature ventricular contractions were successfully eliminated by delivering radiofrequency energy to the inferior wall of the right atrium without causing either junctional rhythm or atrioventricular block. Ventricular arrhythmias originating from this site have been sporadically reported in adults; however, this is the first report in a child.

Impact of left ventricular hypertrophy on frequency and complexity of ventricular arrhythmia among hypertensive Egyptian patients

BackgroundLeft ventricular hypertrophy (LVH) is associated with an increased risk of ventricular arrhythmias and cardiovascular mortality. The study objective was to investigate the effect of LVH severity on the complexity and severity of ventricular arrhythmias among a subset of Egyptian hypertensive patients.ResultsThe study cohort consisted of 60 hypertensive patients with LVH as diagnosed by echocardiography. Their mean age was (53.7 ± 12.3) years. 36 males (40%) and 24 females (60%). Diabetes mellitus was found in 26 patients (43%), 41% of these cases were smokers. 48-h Holter monitoring was performed in all cases to assess the frequency of ventricular premature contractions (VPC) and their complexity using the Lown grading. Increasing posterior wall thickness end diastole (PWTd) was an independent predictor of increasing VPC frequency, each 1 mm increase in the PWTd is associated with a 1.26% increase in the VPC% among total heart beats (b = 12.6, p < 0.001). Higher-grade VPCs—defined as grade 4a, 4b, and 5—were seen in 29 patients (48.3%). Interventricular septum thickness end diastole, PWTd, left ventricular mass, and left ventricular mass index (LVMI), were significantly higher among patients with higher Lown grading (p < 0.001). Using logistic regression analysis, female sex and LVMI were independent predictors of more complex VPC (OR = 8.766, p = .014), (OR = 1.096, p < 0.001), respectively. Among females, LVMI of more than 120 g/m2 can differentiate between high- and low-grade VPCs with 71% sensitivity and 80% specificity, while among males, LVMI of more than 129.5 g/m2 can differentiate between high and low-grade VPCs with 86% sensitivity and 66% specificity.ConclusionsThe frequency and complexity of ventricular arrhythmias among hypertensive heart disease are correlated with the severity of ventricular hypertrophy. Female sex and increasing left ventricular mass index are independent predictors of more complex forms of ventricular arrhythmias.

Diagnosis and treatment of arrhythmogenic cardiomyopathy in children

Objective: To summarize the clinical manifestations, experiences in diagnosis and treatment of arrhythmogenic cardiomyopathy (ACM) in children. Methods: A retrospective analysis of the clinical manifestations, laboratory tests, radiological features, treatment and follow-up results was conducted in 11 children diagnosed with ACM at the center of congenital heart disease, Beijing anzhen hospital from May 2010 to March 2022. Results: A total of 11 patients aged 2 to 16 years, including 5 males and 6 females were diagnosed with ACM. The clinical manifestations included decreased activity tolerance (7 patients), heart failure (4 patients), syncope or sudden death (3 patients), palpitation (3 patients), and chest tightness and pain (3 patients). Electrocardiogram showed right bundle branch block in 9 cases, paroxysmal ventricular tachycardia in 4 cases, frequent premature ventricular contraction in 4 cases, ventricular pre-excitation in 1 case, left bundle branch block in 1 case, and first degree atrioventricular block in 2 cases. Echocardiography showed enlargement of the right heart, widening of the right ventricular outflow tract, and thinning and bulging of the local wall of the right ventricle with reduced pulsation. Ventricular thrombosis was found in 2 cases. Six children underwent cardiac magnetic resonance imaging, which mainly showed severe enlargement of the right heart, thin free wall of the right ventricle, decreased right heart function, enhanced right ventricular myocardium, and formation of right ventricular aneurysm. Two children underwent myocardial biopsy examination and presented with typical pathological changes of ACM. Genetic tests in five patients revealed DSG2 gene mutation in 2 cases, PKP2 gene mutation in 2 cases, and MYH6 gene mutation in 1 case. All patients received anti heart failure treatment and antiarrhythmic drugs. Two children received anticoagulant treatment due to ventricular thrombosis. Radiofrequency ablation was performed in 2 patients. Glenn procedure was performed in 4 patients, and heart transplantation was performed in 1 patient due to progressive heart failure. The follow-up period ranged from 6 months to 12 years. Two cases died of right heart failure, 6 cases had different degrees of heart failure, 1 case had intermittent chest tightness and pain, and 2 cases were stable. Conclusions: ACM is a progressive genetic cardiomyopathy characterized by decreased activity tolerance, cardiac failure and arrhythmia in pediatric patients. The diagnosis is mainly based on clinical manifestations, electrocardiogram, cardiac imaging changes, and genetic testing. Early detection, diagnosis, and personalized treatment can improve the prognosis.

Variable clinical expression of a novel FLNC truncating variant in a large family

BackgroundVariants in Filamin-C (FLNC) have been associated with various hereditary cardiomyopathies. Recent literature reports a prevalence of sudden cardiac death (SCD) of 13–25% among carriers of truncating-variants, with mean age of 42±15 years for first SCD event. This study reports two familial cases of SCD and the results of cascade screening of their large family. MethodsMolecular-autopsy of the SCD victims revealed a novel truncating-variant in the FLNC gene (chr 7:128496880 [hg19]; NM_001458.5; c.7467_7474del; p.(Ser2490fs)). We screened thirty-two family members following genetic counseling, and variant carriers underwent a comprehensive workup followed by consultation with a cardiologist with expertise in the genetics of cardiac diseases. ResultsSeventeen variant carriers were identified: ages between 9 and 85 (mean 47±26). Fifteen underwent clinical evaluation. To date, none of the identified carriers has had major adverse events. In evaluated patients, ECG showed right-axis deviation in 60% (n = 9). Holter recorded frequent premature ventricular contractions (PVCs) (991±2030 per 24 h) in 33% (n = 5) with 4 patients having polymorphic PVC morphology. Three carriers had echocardiographic evidence of mild left-ventricular (LV) systolic dysfunction and another with mild LV dilatation. Cardiac magnetic-resonance (CMR) exhibited late‑gadolinium-enhancement in 10 out of 11 exams, mainly in the mid-myocardium and sub-epicardium, frequently involving the septum and the inferior-lateral wall. ConclusionThis large FLNC truncating variant carrier family exhibits high cardiomyopathy penetrance, best diagnosed by CMR, with variable clinical expressions. These findings present a challenge in SCD prevention management and underscoring the imperative for better risk stratification measures.

Prevalence of frequent premature ventricular contractions and nonsustained ventricular tachycardia in older women screened for atrial fibrillation in the Women’s Health Initiative

BackgroundFrequent premature ventricular contractions (PVCs) and nonsustained ventricular tachycardia (NSVT) have been associated with cardiovascular disease and mortality. Their prevalence, especially in ambulatory populations, is understudied and limited by few female participants and the use of short-duration (24- to 48-hour) monitoring. ObjectiveThe objective of this study was to report the prevalence of frequent PVCs and NSVT in a community-based population of women likely to undergo electrocardiogram (ECG) screening by sequential patch monitoring. MethodsParticipants from the Women’s Health Initiative Strong and Healthy (WHISH) trial with no history of atrial fibrillation (AF) but 5-year predicted risk of incident AF ≥5% by CHARGE-AF score were randomly selected to undergo screening with 7-day ECG patch monitors at baseline, 6 months, and 12 months. Recordings were reviewed for PVCs and NSVT (>5 beats); data were analyzed with multivariate regression models. ResultsThere were 1067 participants who underwent ECG screening at baseline, 866 at 6 months, and 777 at 12 months. Frequent PVCs were found on at least 1 patch from 4.3% of participants, and 1 or more episodes of NSVT were found in 12 (1.1%) women. PVC frequency directly correlated with CHARGE-AF score and NSVT on any patch. Detection of frequent PVCs increased with sequential monitoring. ConclusionIn postmenopausal women at high risk for AF, frequent PVCs were relatively common (4.3%) and correlated with higher CHARGE-AF score. As strategies for AF screening continue to evolve, particularly in those individuals at high risk of AF, the prevalence of incidental ventricular arrhythmias is an important benchmark to guide clinical decision-making.

Difficulties in selecting antiarrhythmic therapy in a patient with left ventricular noncompaction and atrial septal defect: a case report

Introduction. Left ventricular noncompaction (LVNC) is a rare heterogeneous pathology characterized by a two-layered structure with a predominance of non-compact layer in the form of multiple trabeculations and pockets between them, communicating with the left ventricular cavity. One of the rare LVNC phenotypes is a combination with congenital heart defects, including atrial septal defect (ASD).Brief description. The article presents a case report describing the difficulties of selecting antiarrhythmic therapy in a patient with LVNC and ASD, complicated by arrhythmias due to heart failure. The diagnosis of LVNC was confirmed by the Petersen criterion using magnetic resonance imaging.Discussion. Cardiac arrhythmias in patients with LVNC and congenital heart defects, as a result of both anatomical and hemodynamic causes of electrical heart instability, constitute a danger of thromboembolism and sudden cardiac death, and also contribute to heart failure progression. The case is of interest due to the rare combination of LVNC and ASD, complicated by frequent episodes atrial fibrillation and premature ventricular contractions in the form of parasystoles, as well as difficulties in selecting antiarrhythmic therapy. Pulmonary vein cryoballoon ablation eliminated the source of atrial fibrillation. Ventricular ectopic activity was stopped using the anticonvulsant drug carbamazepine.

Propensity-score matched comparison of renal and neurohormonal effects of catheter ablation for frequent premature ventricular contractions in patients with and without systolic dysfunction.

Catheter ablation (CA) for premature ventricular contractions (PVCs) restores cardiac and renal functions in patients with reduced left ventricular ejection fraction (LVEF); however, its effects on preserved EF remain unelucidated. The study cohort comprised 246 patients with a PVC burden of >10% on Holter electrocardiography. Using propensity matching, we compared the changes in B-type natriuretic peptide (BNP) levels and estimated glomerular filtration rate (eGFR) in patients who underwent CA or did not. Postoperative BNP levels were decreased significantly in the CA group, regardless of the degree of LVEF, whereas there was no change in those of the non-CA group. Among patients who underwent CA, BNP levels decreased from 44.1 to 33.0 pg/mL in those with LVEF ≥50% (p = .002) and from 141.0 to 87.9 pg/mL in those with LVEF <50% (p < .001). Regarding eGFR, postoperative eGFR was significantly improved in the CA group of patients with LVEF ≥50% (from 71.4 to 74.7 mL/min/1.73 m2, p = .006), whereas it decreased in the non-CA group. A similar trend was observed in the group with a reduced LVEF. Adjusted for propensity score matching, there was a significant decrease in the BNP level and recovery of eGFR after CA in patients with LVEF >50%. This study showed that CA for frequent PVCs decreases BNP levels and increases eGFR even in patients with preserved LVEF.

Mechanisms and Risk Factors for Premature Ventricular Contraction Induced Cardiomyopathy.

Frequent premature ventricular contractions (PVCs) can cause a reversible form of cardiomyopathy in patients without structural heart disease. Because of the challenging nature of PVC-induced cardiomyopathy (PVICM), the mechanisms and risk factors for PVICM are still unclear. Based on the evidence from retrospective and observational studies, the risk factors for the development of PVICM, in addition to PVC exposure, include QRS duration, coupling interval and male sex. Based on animal models, abnormal calcium handling and cardiac remodeling may be the crucial mechanism underlying the development of cardiomyopathy. We have summarized the current knowledge on PVICM in this review. Understanding these mechanisms and risk factors is important for the diagnosis and management of this condition, which can lead to heart failure if left untreated.

Association between excess catecholamine synthesis and polymorphic premature ventricular contraction

BackgroundThe reasons for the etiology of premature ventricular contractions (PVCs) are not specifically known. Many patients are resistant to medical treatment, and a factor that would predict response to medical treatment cannot be identified. This study aims to investigate if a high catecholamine level results in polymorphic PVC. MethodsThis study was obtained by prospective data registry analysis. A total of 100 patients, 50 from the PVC group, and 50 from the control group have been evaluated. The participants who were included in the patient group had a polymorphic PVC of 5% or more in their 24-h Holter evaluations. Metanephrine showing the level of adrenaline and normetanephrine, showing the level of noradrenaline levels have been measured from these urine samples. ResultThere was no difference between the two groups in terms of biochemical and essential characteristics. Normetanephrine level has been significantly higher in the PVC group compared to the control group (323.9 ± 208.9 μg to 129.25 ± 67.88 μg; p < 0.001). Similarly, metanephrine level has also been higher in the PVC group (124.75 ± 82.43 μg to 52.615 ± 36,54 μg; p < 0.001). A positive and moderate correlation has been identified between the number and ratio of PVC and the metanephrine and normetanephrine levels. ConclusionIn this study, we found that the catecholamine levels were higher in the polymorphic PVC group than in the healthy volunteers. Also, an increase in the number and rate of PVC has been observed as the catecholamine levels increased. Clinical Trial RegistrationUrine Levels of Metanephrine and Normetanephrine in Patients With Frequent PVC; ClinicalTrials.gov number NCT03447002