Mutations of the SCN5A gene are reported in 2-4% of patients with dilated cardiomyopathy (DCM). In such cases, DCM is associated with different rhythm disturbances such as the multifocal ectopic Purkinje-related premature contractions and atrial fibrillation. Arrhythmia often occurs at a young age and is the first symptom of heart disease. We present the case of 55-year old male with a 30-year history of heart failure (HF) in the course of familial DCM and complex ventricular tachyarrhythmias, which constituted 50-80% of the whole rhythm. The patient was qualified for heart transplantation because of the increasing symptoms of HF. We revealed the heterozygotic R222Q mutation in SCN5A by means of whole exome sequencing. After the quinidine treatment, a rapid and significant reduction of ventricular tachyarrhythmias and an improvement in the myocardial function were observed and this effect remained constant in the 2.5-year follow-up. This effect was observed even in the presence of concomitant coronary artery disease. Patients with familial DCM and Purkinje-related ventricular arrhythmias should be offered genetic screening. The quinidine treatment for the SCN5A R222Q mutation can be life saving for patients.

Background/Objectives: PRKAG2 syndrome (PS) is a rare genocopy of hypertrophic cardiomyopathy (HCM). Our goal was to expand knowledge about PS by analyzing patient clinical, imaging, and follow-up data. Methods: The study included carriers of likely pathogenic or pathogenic PRKAG2 variants identified in the years 2011–2022. Cardiac involvement was assessed by electrocardiography, echocardiography, cardiac magnetic resonance imaging, and endomyocardial biopsy (EMB). We recorded concomitant diseases and cardiac events, including the implantation of electronic cardiac devices, arrhythmia, heart failure (HF), and death. Results: Seven patients from four families (median age 43 years) with PRKAG2 variants: Phe293Leu, Val336Leu, Arg302Gln, and His530Arg were included. At the first evaluation, 3 carriers were in New York Heart Association (NYHA) functional class II–III, while the remaining were in NYHA class I. Left ventricular hypertrophy (LVH) was present in 5 patients; 2 had ventricular pre-excitation, one was in atrial flutter and pacemaker-dependent; 2 had bradycardia. Two female carriers had concomitant chronic renal disease. In the EMB of one of the patients, staining for glycogen deposits was positive. Furthermore, we provide a link between the Val336Leu PRKAG2 variant and autophagy identified on EMB. After a median follow-up of 13.1 years, 6 carriers had LVH, 3 required admission for HF, and 1 had sustained ventricular tachycardia with subsequent cardioverter defibrillator implantation, and despite this, died suddenly; there were two de novo pacemaker implantations due to symptomatic bradycardia. Conclusions: PR is a distinctive disorder with an early onset of arrhythmic events, often leading to HF.

Objective Only limited clinical and electrophysiological data concerning patients (pts) with multiple accessory pathways (MAP) in comparison to large control groups are available. The aim of our study was to analyse these data from the largest cohort of patients with multiple accessory pathways and a large control group. Method and results We analysed data from pts with MAP (group 1) and pts with a single accessory pathway (AP) (group 2) referred for radiofrequency catheter ablation (RFCA) at our tertiary centre. Group 1 consisted of 124 pts (M 62.10%, mean age 33.00 ± 5.26) with MAP and RFCA. Group 2 consisted of 376 pts (M 51.20%, mean age 35.87 ± 16.15) with a single accessory pathway and RF ablation. Group 1 exhibited a higher incidence of overt APs (P < 0.0001), Ebstein anomaly (P = 0.001), ventricular fibrillation (P = 0.012), antidromic atrioventricular re-entrant tachycardia (A AVRT) (P = 0.025) and male gender (P = 0.038). The mean age at the first documented atrioventricular re-entrant tachycardia (AVRT) episode was lower in pts with MAP than in pts with single APs: 16.79 ± 13.41 vs 20.84 ± 14.29, respectively (P = 0.001). Concealed accessory pathways (P < 0.0001) occurred more frequently in the control group. Group 1 had more right-lateral (P = 0.0001), mid-septal (P = 0.0001), left-posterior (P = 0.01), left-anterior (P = 0.013) and left-lateral localizations of AP (P < 0.037). Conclusions The MAP group included statistically significantly more men, Ebstein anomaly and overt APs. The mean age of the first episode of atrioventricular re-entrant tachycardia was lower in pts with MAP. Certain distribution patterns are apparent for single and MAP. Pts with MAP are at higher risk of VF and antidromic atrioventricular re-entrant tachycardia.

Background: Previous reports on patients with radiofrequency catheter ablation (RFCA) of accessory pathway (AP) and atrial fibrillation (AF) include only short follow-up periods. The aim of this study was to analyse predictors of recurrence of AF in patients after successful RFCA of APs over long term follow-up periods. Methods: Of the 1,007 patients who underwent non-pharmacological treatment of Aps ( between the years 1993–2008), data of 100 consecutive patients were retrospectively analyzed (75 men, mean age 43.6 ± 14.7), with the longest period of follow-up (mean 11.3 ± 3.5 years) after successful RFCA of AP. In Group 1, there were 72 patients (54 M, mean age 40.66 ± 13.85 years) without documented episodes of AF after RFCA of AP. Group 2 consisted of 28 patients (21 men, mean age 50.79 ± 14.49 years) with AF episodes despite successful elimination of AP. Results: In univariate analysis, patients from Group 1 were significantly younger at the time of ablation than patients from Group 2 (40.66 ± 13.85 vs. 50.79 ± 14.49 years; p = 0.002), had shorter history of AF episodes (4.11 ± 4.07 vs. 8.25 ± 7.50 years; p = 0.024) and had more frequently documented atrial tachycardia (AT) prior to ablation (3.39 vs. 20.00 years; p = 0.022). In multivariate analysis, the history of AF in years (p = 0.043), was an independent risk factor for AF recurrences. Conclusions: Older patient age, longer history of AF and AT prior to RFCA of APs identified a subgroup of patients who required additional treatment. In the multivariate analysis, the history of AF in years (p = 0.043) was a risk factor for AF recurrence. Background: Previous reports on patients with radiofrequency catheter ablation (RFCA) of accessory pathway (AP) and atrial fibrillation (AF) include only short follow-up periods. The aim of this study was to analyse predictors of recurrence of AF in patients after successful RFCA of APs over long term follow-up periods. Methods: Of the 1,007 patients who underwent non-pharmacological treatment of Aps ( between the years 1993–2008), data of 100 consecutive patients were retrospectively analyzed (75 men, mean age 43.6 ± 14.7), with the longest period of follow-up (mean 11.3 ± 3.5 years) after successful RFCA of AP. In Group 1, there were 72 patients (54 M, mean age 40.66 ± 13.85 years) without documented episodes of AF after RFCA of AP. Group 2 consisted of 28 patients (21 men, mean age 50.79 ± 14.49 years) with AF episodes despite successful elimination of AP. Results: In univariate analysis, patients from Group 1 were significantly younger at the time of ablation than patients from Group 2 (40.66 ± 13.85 vs. 50.79 ± 14.49 years; p = 0.002), had shorter history of AF episodes (4.11 ± 4.07 vs. 8.25 ± 7.50 years; p = 0.024) and had more frequently documented atrial tachycardia (AT) prior to ablation (3.39 vs. 20.00 years; p = 0.022). In multivariate analysis, the history of AF in years (p = 0.043), was an independent risk factor for AF recurrences. Conclusions: Older patient age, longer history of AF and AT prior to RFCA of APs identified a subgroup of patients who required additional treatment. In the multivariate analysis, the history of AF in years (p = 0.043) was a risk factor for AF recurrence.

The implantation of a subcutaneous cardioverter-defibrillator (S-ICD) may be used instead of a traditional transvenous system to prevent sudden cardiac death. Our aim was to compare the characteristics of S-ICD patients from the multi-center registry of S-ICD implantations in Poland with the published results of the European Snapshot Survey on S-ICD Implantation (ESSS-SICDI). We compared data of 137 Polish S-ICD patients with 68 patients from the ESSS-SICDI registry. The groups did not differ significantly in terms of sex, prevalence of ischemic cardiomyopathy, concomitant diseases, and the rate of primary prevention indication. Polish patients had more advanced heart failure (New York Heart Association (NYHA) class III: 11.7% vs. 2.9%, NYHA II: 48.9% vs. 29.4%, NYHA I: 39.4% vs. 67.7%, p < 0.05 each). Young age (75.9% vs. 50%, p < 0.05) and no vascular access (7.3% vs. 0%, p < 0.05) were more often indications for S-ICD. The percentage of patients after transvenous system removal due to infections was significantly higher in the Polish group (11% vs. 1.5%, p < 0.05). In the European population, S-ICD was more frequently chosen because of patients’ active lifestyle and patients’ preference (both 10.3% vs. 0%, p < 0.05). Our analysis shows that in Poland, compared to other European countries, subcutaneous cardioverters-defibrillators are being implanted in patients at a more advanced stage of chronic heart failure. The most frequent reason for choosing a subcutaneous system instead of a transvenous ICD is the young age of a patient.