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2.
Artigo em Inglês | MEDLINE | ID: mdl-31967367

RESUMO

BACKGROUND: Micra transcatheter pacemaker (TPS) usually achieves low implant pacing threshold (IPT). However, IPT may increase in some patients during follow-up. AIM: To apply implant parameters in predicting long-term occurrence of very high pacing threshold (VHPT) in patients with Micra-TPS. METHODS: A cohort of 110 consecutive patients implanted with a Micra-TPS from 2014 to 2018 was evaluated at discharge and at 1-12-24-36-48-month follow-up. VHPT was defined as >2V/0.24msec. VHPT predictors were identified. RESULTS: Micra-TPS was implanted successfully in 108 patients (98.2%). During a mean follow-up of 24±16 months, 18 patients (16.7%) died of causes non-pacemaker-related, and 4 (3.8%) developed VHPT. Patients with VHPT had higher IPT and lower implant impedance than non-VHPT patients: 1±0.31 vs. 0.55±0.29 V/0.24 msec (p=0.003) and 580±59 vs. 837± 232 ohms (p=0.03), respectively. IPT and impedance had excellent discriminative power to predict VHPT (area under the curve: 0.85±0.07 and 0.91±0.05, respectively).Negative predictive value (NPV) of IPT ≤0.5V/0.24 msec was 100%; positive predictive value (PPV) was 8% throughout follow-up. Implant impedance ≤600 ohm had NPV of 99% throughout follow-up, whereas PPV varied: 16%, 21%, 16%, and 28% at 1, 12, 24, and 36 months, respectively. Sequential combination of IPT >0.5V/0.24 msec and impedance ≤600Ω improved PPV to 25%, 35%, 27% and 44%, respectively, whereas NPV remained 99% throughout follow-up. CONCLUSION: Despite favorable long-term electrical performance of Micra-TPS, a small percent of patients developed VHPT during follow-up. Sequential combination of IPT and impedance could allow the implanter to identify patients who will develop VHPT during long-term follow-up. This article is protected by copyright. All rights reserved.

4.
Europace ; 2019 Dec 10.
Artigo em Inglês | MEDLINE | ID: mdl-31821484

RESUMO

AIMS: Cryoballoon (CB) ablation has emerged as a reliable modality to isolate pulmonary veins (PVs) in atrial fibrillation. Ablation lesions and the long-term effects of energy delivery can be assessed by delayed-enhancement cardiac magnetic resonance (DE-CMR). The aim of the study was to compare the number, extension, and localization of gaps in CB and radiofrequency (RF) techniques in pulmonary vein isolation (PVI). METHODS AND RESULTS: Consecutive patients submitted to PVI with CB in whom DE-CMR images were available (n = 30) were matched (1:1) to patients who underwent PVI with RF (n = 30), considering age, sex, hypertension, and diabetes. Delayed-enhancement cardiac magnetic resonance was obtained at 3 months post-procedure, and images were processed to assess the mean number of gaps around PV ostia, their localization, and the normalized gap length (NGL), calculated as the difference between total gap length and total PV perimeter. Patients were followed up for 12 months. The CB and RF procedures did not differ in the mean number of gaps per patient (4.40 vs. 5.13 gaps, respectively; P = 0.21) nor NGL (0.35 vs. 0.32, P = 0.59). For both techniques, a higher mean number of gaps were detected in right vs. left PVs (3.18 vs. 1.58, respectively; P = 0.01). The incidence of recurrences did not differ between techniques (odds ratio 1.87, 95% confidence interval 0.66-4.97; P = 0.29). CONCLUSION: Location and extension of ablation gaps in PVI did not differ between CB and RF groups in DE-CMR image analysis.

5.
Europace ; 2019 Dec 10.
Artigo em Inglês | MEDLINE | ID: mdl-31821488

RESUMO

AIMS: The ESC EORP EHRA Atrial Fibrillation (AF) Ablation Long-Term registry was designed to assess management and outcomes of AF catheter ablation procedures in Europe. To investigate the current ablation approaches and their outcomes for patients with paroxymal AF (PAF) and non-PAF in Europe. METHODS AND RESULTS: Data from index ablations were collected in 27 European countries at 104 centres in a prospective fashion. Pre-procedural, procedural, and 1-year follow-up data were captured on a web-based electronic case record form. Data on the ablation procedure were available for 3446 patients. Of these, 2513 patients and 933 patients underwent pulmonary vein isolation (PVI) or PVI plus (PVIplus) additional ablation, respectively. The ablation strategy was limited to PVI in 81% and 56% of patients in the PAF and non-PAF group, respectively (P < 0.001). In the non-PAF group, left atrial linear ablation and ablation of complex fragmented atrial electrograms were more commonly performed. Arrhythmias recurrence after PVI was 29% and 39% in the PAF and non-PAF group, respectively (P < 0.001) and 42% after PVIplus in both groups. Atrial fibrillation related hospital admissions were more common in the PVIplus group (20% vs. 14%). A very low procedural complication rate was observed. No relevant differences were observed with regard to repeat ablation (PVI 9% and PVIplus 11%). CONCLUSION: In patients with PAF and non-PAF, the ablation strategies of PVI and PVIplus led to similar arrhythmia-free survival rates after 1 year. A considerable hospital readmission rate was noted.

7.
Am Heart J ; 220: 213-223, 2019 Nov 08.
Artigo em Inglês | MEDLINE | ID: mdl-31864099

RESUMO

BACKGROUND: Cardiogenic syncope in Brugada syndrome (BrS) increases the risk of major events. Nevertheless, clinical differentiation between cardiogenic and vasovagal syncope can be challenging. We characterized the long-term incidence of major events in a large cohort of BrS patients who presented with syncope. METHODS: From a total of 474 patients, syncope was the initial manifestation in 135 (28.5%) individuals (43.9 ±â€¯13.9 years, 71.1% male). The syncope was classified prospectively as cardiogenic, vasovagal, or undefined if unclear characteristics were present. Clinical, electrocardiographic, genetic, and electrophysiologic features were analyzed. Cardiogenic syncope, sustained ventricular arrhythmias, and sudden death were considered major events in follow-up. RESULTS: In 66 patients (48.9%), the syncope was cardiogenic; in 51 (37.8%), vasovagal and in 18 (13.3%); undefined. The electrophysiology study (EPS) inducibility was more frequent in patients with cardiogenic syncope and absent in all patients with undefined syncope (28 [53.8%] vs 5 [12.2%] vs 0 [0%]; P < .01). During follow-up (7.7 ±â€¯5.6 years), only patients with cardiogenic syncope presented major events (16 [11.9%]). Among patients with inducible EPS, 7 (21.2%) presented major events (P = .04). The negative predictive value of the EPS for major events was 92.4%. The incidence rate of major events was 2.6% person-year. Parameters associated with major events included cardiogenic syncope (hazard ratio [HR] 6.3; 95% CI 1.1-10.4; P = .05), spontaneous type 1 electrocardiogram (HR 3.7; 95% CI 1.3-10.5; P = .01), and inducible EPS (HR 2.8; 95% CI 1.1-8.8; P = .05). CONCLUSIONS: An accurate syncope classification is crucial in BrS patients for risk stratification. In patients with syncope of unclear characteristics, the EPS may be helpful to prevent unnecessary implantable cardioverter defibrillators.

8.
Europace ; 2019 Aug 13.
Artigo em Inglês | MEDLINE | ID: mdl-31693093

RESUMO

AIMS: Monitoring of patients after ablation had wide variations in the ESC-EHRA atrial fibrillation ablation long-term (AFA-LT) registry. We aimed to compare four different monitoring strategies after catheter AF ablation. METHODS AND RESULTS: The ESC-EHRA AFA-LT registry included 3593 patients who underwent ablation. Arrhythmia monitoring during follow-up was performed by 12-lead electrocardiogram (ECG), Holter ECG, trans-telephonic ECG monitoring (TTMON), or an implanted cardiac monitoring (ICM) system. Patients were selected to a given monitoring group according to the most extensive ECG tool used in each of them. Comparison of the probability of freedom from recurrences was performed by censored log-rank test and presented by Kaplan-Meier curves. The rhythm monitoring methods were used among 2658 patients: ECG (N = 578), Holter ECG (N = 1874), TTMON (N = 101), and ICM (N = 105). A total of 767 of 2658 patients (28.9%) had AF recurrences during follow-up. Censored log-rank test discovered a lower probability of freedom from relapses, which was detected with ICM compared to TTMON, ECG, and Holter ECG (P < 0.001). The rate of freedom from AF recurrences was 50.5% among patients using the ICM while it was 65.4%, 70.6%, and 72.8% using the TTMON, ECG, and Holter ECG, respectively. CONCLUSION: Comparing all main electrocardiographic monitoring methods in a large patient sample, our results suggest that post-ablation recurrences of AF are significantly underreported by TTMON, ECG, and Holter ECG. The ICM estimates AF ablation recurrences most reliably and should be a preferred mode of monitoring for trials evaluating novel AF ablation techniques.

9.
Circ Arrhythm Electrophysiol ; 12(6): e007247, 2019 May 22.
Artigo em Inglês | MEDLINE | ID: mdl-31693319

RESUMO

Background: The FIRE AND ICE trial assessed efficacy and safety of pulmonary vein (PV) isolation using cryoballoon versus radiofrequency current (RFC) ablation in patients with drug refractory, symptomatic, paroxysmal atrial fibrillation (AF). The purpose of the current study was to assess index lesion durability as well as reablation strategy and outcomes in trial patients undergoing a reablation procedure. Methods: Patients with reablation procedures during FIRE AND ICEwere retrospectively consented and enrolled at 13 trial centers. The first reablation for each patient was included in the analysis. Documented arrhythmias before reablation, number and location of reconnected PVs, lesions created during reablations, procedural characteristics, and acute as well as long-term outcomes were assessed. Results: Eighty-nine (36 cryoballoon and 53 RFC) patients were included in this study. Paroxysmal atrial fibrillation was the predominant recurrent arrhythmia (69%) before reablation. Reablations occurred at a median of 173 and 182 days (P=0.54) in the cryoballoon and RFC cohorts, respectively. The number of reconnected PVs was significantly higher in the RFC than the cryoballoon group (2.1±1.4 versus 1.4±1.1; P=0.010), which was driven by significantly more reconnected left superior PVs and markedly more reconnected right superior PVs. The number of (predominantly RFC) lesions applied during reablation was significantly greater in patients originally treated with RFC (3.3±1.3 versus 2.5±1.5; P=0.015) with no difference in overall acute success (P=0.70). After reablation, no differences in procedure-related rehospitalization or antiarrhythmic drug utilization were observed between cohorts. Conclusions: At reablation, patients originally treated with the cryoballoon had significantly fewer reconnected PVs, which may reflect RFC catheter instability in certain left atrial regions, and thus required fewer lesions for reablation success. Repeat ablations were predominantly performed with RFC and resulted in similar acute success, duration of hospitalization, and antiarrhythmic drug prescription between the study cohorts.

10.
Europace ; 2019 Nov 26.
Artigo em Inglês | MEDLINE | ID: mdl-31768523

RESUMO

AIMS: Rhythm control management in patients with atrial fibrillation (AF) may be unequal across Europe. The aim of this study was to investigate how selective the patient cohort referred for AF ablation is, as compared to the general AF population in Europe, and to describe the governing mechanisms for such selection. METHODS AND RESULTS: Descriptive comparative statistical analyses of the baseline characteristics were performed between the cohorts of Atrial Fibrillation Ablation Long-Term (ESC EORP AFA-LT) registry, designed to provide a picture of contemporary real-world AF ablation, and the AF population from the AF-General (ESC EORP AF-Gen) pilot registry. Data collection was performed using a web-based system. In the AFA and in the Atrial Fibrillation General (AFG) pilot registries, 3593 and 3049 patients were enrolled, respectively. Patients who underwent AF ablation were younger, more commonly male, and had significantly less comorbidities. Atrial Fibrillation Ablation patients often presented without comorbidities, resulting in a lower risk of stroke (CHA2DS2-VASc ≥5: 2.9% vs. 24.5%, all P < 0.001) and bleeding (HAS-BLED ≥2: 8.5% vs. 40.5%, P < 0.001) but with European Heart Rhythm Association (EHRA) scores >1 and more prevalent AF-related symptoms such as palpitations, fatigue, and weakness (all P < 0.001) as compared to the general AF patients. Atrial Fibrillation Ablation patients were significantly more often male, had higher left ventricular ejection fraction (59.5% vs. 52.4%) and smaller left atrial size on echocardiogram (P < 0.001 each). CONCLUSION: The comparison of the patient cohorts in the AFA and AFG registries showed that AF ablation in European clinical practice is mostly performed in relatively young, symptomatic and relatively healthy patients.

11.
Cardiol Res Pract ; 2019: 6420364, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31583131

RESUMO

The persistence of inflammatory processes in the myocardium in varying degrees of chronic Chagas heart disease has been poorly investigated. We hypothesized that edema could occur in patients with chronic chagasic cardiomyopathy and corresponds to the persistence of inflammatory processes in the myocardium. Eighty-two Chagas disease (CD) seropositive patients (64.6% females; age = 58.9 ± 9.9) without ischemic heart disease or conditions that cause myocardial fibrosis and dilation were considered. Late gadolinium enhancement (LGE) and T2-weighted magnetic resonance imaging of edema were obtained and represented using a 17-segment model. Patients were divided into three clinical groups according to the left ventricular (LV) ejection fraction (EF) as G1 (EF > 60%; n=37), G2 (35% > EF < 60%; n=33), and G3 (EF < 35%; n=12). Comparisons were performed by the Fisher or ANOVA tests. Bonferroni post hoc, Spearman correlation, and multiple correspondence analyses were also performed. Edema was observed in 8 (9.8%) patients; 2 (5.4%) of G1, 4 (12.1%) of G2, and 2 (16.7%) of G3. It was observed at the basal inferolateral segment in 7 (87.5%) cases. LGE was observed in 48 (58.5%) patients; 16 (43.2%) of G1, 21 (63.6%) of G2, and 11 (91.7%) of G3 (p < 0.05). It was observed in the basal inferior/inferolateral/anterolateral segments in 35 (72.9%) patients and in the apical anterior/inferior/lateral and apex segments in 21 (43.7%), with midwall (85.4%; n=41), subendocardial (56.3%; n=27), subepicardial (54.2%; n=26), transmural (31.2%; n=15), and RV (1.2%; n=1) distribution. Subendocardial lesions were observed only in patients with LVEF < 35%. There was no involvement of the mid-inferolateral/anterolateral segments with an LVEF > 35% (p < 0.05). Deteriorations of the LV and RV systolic functions were positively correlated (r s =0.69; p < 0.05) without evidence of LGE in the RV. Edema can be found in patients with chagasic cardiomyopathy in the chronic stage. In later stages of cardiac dilation with low LVEF, the LGE pattern involves subendocardium and mid locations. Deteriorations of RV and LV are positively correlated without evidence of fibrosis in the RV.

13.
Europace ; 2019 Aug 22.
Artigo em Inglês | MEDLINE | ID: mdl-31504431

RESUMO

AIM: The purpose of this study was to compare sex differences of atrial fibrillation (AF) catheter ablation (CA) and to analyse the opportunities for improved outcomes. METHODS AND RESULTS: All data were collected from the Atrial Fibrillation Ablation Long-Term registry, a prospective, multinational study conducted by the ESC-EORP European Heart Rhythm Association (EHRA) under the EURObservational Research Programme (ESC-EORP). A total of 104 centres in 27 European countries participated. Of 3593 included patients, 1146 (31.9%) were female. Female patients were older (61.0 vs. 56.4 years; P < 0.001), had more comorbidities (hypertension, diabetes, and obesity), more episodes of arrhythmias per month (6.9 vs. 6.2; P < 0.001), and a higher average EHRA score (2.6 vs. 2.4; P < 0.001). The duration of the procedure was shorter in females (160.1 min vs. 167.9 min; P < 0.001), irrespective of additional ablation lesions added to pulmonary vein isolation. Overall cardiovascular complications were more frequent in women than in men (5.7% vs. 3.4%; P < 0.001). Furthermore, cardiac perforations (3.8% vs. 1.3%; P = 0.011) and neurological complications (2.2% vs. 0.3%; P = 0.004) were found in females in less experienced centres than in experienced ones. On a final note, at 12 months, AF recurrence rate was similar in females and males (34.4% vs. 34.2%; P = 0.897), but more females were still on antiarrhythmic drugs (50.6% vs. 44.1%; P < 0.001) when compared with men. CONCLUSION: Females underwent CA procedures for AF less frequently than males throughout Europe, despite more recurrent symptoms. With the same success rate, severe acute complications remained considerable in females, especially in less experienced centres.

14.
Europace ; 21(11): 1670-1677, 2019 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-31504477

RESUMO

AIMS : To define the clinical characteristics and long-term clinical outcomes of a large cohort of patients with idiopathic ventricular fibrillation (IVF) and normal 12-lead electrocardiograms (ECGs). METHODS AND RESULTS: Patients with ventricular fibrillation as the presenting rhythm, normal baseline, and follow-up ECGs with no signs of cardiac channelopathy including early repolarization or atrioventricular conduction abnormalities, and without structural heart disease were included in a registry. A total of 245 patients (median age: 38 years; males 59%) were recruited from 25 centres. An implantable cardioverter-defibrillator (ICD) was implanted in 226 patients (92%), while 18 patients (8%) were treated with drug therapy only. Over a median follow-up of 63 months (interquartile range: 25-110 months), 12 patients died (5%); in four of them (1.6%) the lethal event was of cardiac origin. Patients treated with antiarrhythmic drugs only had a higher rate of cardiovascular death compared to patients who received an ICD (16% vs. 0.4%, P = 0.001). Fifty-two patients (21%) experienced an arrhythmic recurrence. Age ≤16 years at the time of the first ventricular arrhythmia was the only predictor of arrhythmic recurrence on multivariable analysis [hazard ratio (HR) 0.41, 95% confidence interval (CI) 0.18-0.92; P = 0.03]. CONCLUSION : Patients with IVF and persistently normal ECGs frequently have arrhythmic recurrences, but a good prognosis when treated with an ICD. Children are a category of IVF patients at higher risk of arrhythmic recurrences.

15.
J Electrocardiol ; 56: 85-89, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31326859

RESUMO

Supraventricular tachycardias (SVT) are the most common arrhythmias in the perinatal period. Permanent junctional reciprocating tachycardia (PJRT) is a rare form of SVT, often incessant and refractory to pharmacological treatments. Our goal was to analyze the clinical features and treatment of PJRT in patients younger than 2 months and to describe their long-term outcomes. METHODS: Retrospective descriptive observational study of patients diagnosed between 2000 and 2015 in the NICU of a referral center for the treatment of pediatric arrhythmias. History of pregnancy, neonatal period, pharmacological treatment, electrophysiological study and long-term follow-up were reviewed. RESULTS: 129 of the 10.198 (1.26%) patients admitted to the NICU had SVT, sixteen of them (12.3%) being diagnosed as PJRT. Ten cases had a prenatal diagnosis. For those six patients postnatally diagnosed, the tachycardia was detected either during a routine check-up or because of acute hemodynamic instability. The majority of patients required combinations of drugs, despite that the tachycardia was poorly controlled. Fifteen patients underwent cardiac ablation, nine patients (60%) in the neonatal period and six during childhood. The procedure was completely effective in all cases. One patient had a transient complete AV block that resolved spontaneously 24 hours after the procedure. No other complications were seen. After a mean follow-up of 10.9 years, no patient has presented recurrence, cardiac dysfunction, signs of ischemia or EKG abnormalities, they all have a normal life. CONCLUSIONS: When PJRT is refractory to multiple drugs, cardiac ablation should be taken into account at early stages even in very young patients.

16.
Heart Rhythm ; 16(10): 1468-1474, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31284050

RESUMO

BACKGROUND: There is limited information on ethnic differences between patients with Brugada syndrome (BrS) and arrhythmic events (AEs). OBJECTIVE: The purpose of this study was to compare clinical, electrocardiographic (ECG), electrophysiological, and genetic characteristics between white and Asian patients with BrS and AEs. METHODS: The Survey on Arrhythmic Events in Brugada Syndrome is a multicenter survey from Western and Asian countries, gathering 678 patients with BrS and first documented AE. After excluding patients with other (n = 14 [2.1%]) or unknown (n = 30 [4.4%]) ethnicity, 364 (53.7%) whites and 270 (39.8%) Asians comprised the study group. RESULTS: There was no difference in AE age onset (41.3 ± 16.1 years in whites vs 43.3 ± 12.3 years in Asians; P = .285). Higher proportions of whites were observed in pediatric and elderly populations. Asians were predominantly men (98.1% vs 85.7% in whites; P < .001) and frequently presented with aborted cardiac arrest (71.1% vs 56%; P < .001). Asians tended to display more spontaneous type 1 BrS-ECG pattern (71.5% vs 64.3%; P = .068). A family history of sudden cardiac death was noted more in whites (29.1% vs 11.5%; P < .001), with a higher rate of SCN5A mutation carriers (40.1% vs 13.2% in Asians; P < .001), as well as more fever-related AEs (8.5% vs 2.9%; P = .011). No difference was observed between the 2 groups regarding history of syncope and ventricular arrhythmia inducibility. CONCLUSION: There are important differences between Asian and white patients with BrS. Asian patients present almost exclusively as male adults, more often with aborted cardiac arrest and spontaneous type 1 BrS-ECG. However, they have less family history of sudden cardiac death and markedly lower SCN5A mutation rates. The striking difference in SCN5A mutation rates should be tested in future studies.

17.
J Clin Med ; 8(7)2019 Jul 16.
Artigo em Inglês | MEDLINE | ID: mdl-31315195

RESUMO

Short QT syndrome, one of the most lethal entities associated with sudden cardiac death, is a rare genetic disease characterized by short QT intervals detected by electrocardiogram. Several genetic variants are causally linked to the disease, but there has yet to be a comprehensive analysis of variants among patients with short QT syndrome. To fill this gap, we performed an exhaustive study of variants currently catalogued as deleterious in short QT syndrome according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Analysis of the 32 variants described in the literature determined that only nine (28.12%) have a conclusive pathogenic role. All definitively pathogenic variants are located in KCNQ1, KCNH2, or KCNJ2; three genes encoding potassium channels. Other variants located in genes encoding calcium or sodium channels are associated with electrical alterations concomitant with shortened QT intervals but do not guarantee a diagnosis of short QT syndrome. We recommend caution regarding previously reported variants classified as pathogenic. An exhaustive re-analysis is necessary to clarify the role of each variant before routinely translating genetic findings to the clinical setting.

18.
Pacing Clin Electrophysiol ; 42(10): 1365-1373, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31355938

RESUMO

BACKGROUND: The influence of risk factors on atrial fibrillation (AF) ablation recurrence is increasingly recognized. We present a sub-analysis of the European Society of Cardiology-European Heart Rhythm Association-European Society of Cardiology AF ablation long-term registry on the effect of traditional risk factors for AF on postablation recurrence, reablation, and complications using real-world data. METHODS: Risk factors for AF were defined as body mass index ≥27 kg/m², hypertension, chronic obstructive pulmonary disease, diabetes, alcohol ≥2 units/day, sleep apnea, smoking, no/occasional sports activity, moderate/severe mitral or aortic valve disease, any cardiomyopathy, peripheral vascular disease, chronic kidney disease, heart failure, coronary artery disease/infarction, and previous pacemaker/defibrillator implant. Patients were divided in two groups with ≥1 or without risk factors. Primary outcomes were arrhythmia recurrence after blanking period, reablation, and adverse events or death. Differences between the groups and the influence of individual risk factors were analyzed using multivariate Cox regression. RESULTS: Three thousand sixty nine patients were included; 217 patients were without risk factors. Risk factor patients were older (58.4 vs 54.1 years), more often female (32% vs 19.8%) and had more often persistent AF (27.2% vs 23.5%). In a multivariate analysis, patients without risk factors had a hazard ratio of 0.70 (95% CI 0.49-0.99) for recurrence compared to risk factor patients. The multivariate hazard ratios for reablation or adverse events/death were not different between the two groups. Hypertension and body mass index were univariate predictors of recurrence. CONCLUSIONS: Patients with ≥1 risk factor had a 30% higher risk for arrhythmia recurrence after ablation, but no differences in risk for repeat ablations and adverse events or death.

20.
Front Genet ; 10: 450, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31156706

RESUMO

Cardiomyopathies are a heterogeneous group of inherited cardiac diseases characterized by progressive myocardium abnormalities associated with mechanical and/or electrical dysfunction. Massive genetic sequencing technologies allow a comprehensive genetic analysis to unravel the cause of disease. However, most identified genetic variants remain of unknown clinical significance due to incomplete penetrance and variable expressivity. Therefore, genetic interpretation of variants and translation into clinical practice remain a current challenge. We performed retrospective comprehensive clinical assessment and genetic analysis in six families, four diagnosed with arrhythmogenic cardiomyopathy, and two diagnosed with hypertrophic cardiomyopathy (HCM). Genetic testing identified three rare variants (two non-sense and one small indel inducing a frameshift), each present in two families. Although each variant is currently classified as pathogenic and the cause of the diagnosed cardiomyopathy, the onset and/or clinical course differed in each patient. New genetic technology allows comprehensive yet cost-effective genetic analysis, although genetic interpretation, and clinical translation of identified variants should be carefully done in each family in a personalized manner.

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