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Resumen Introduccion y objetivos La amiloidosis hereditaria por transtirretina (ATTRv) es una enfermedad causada por mutaciones en el gen de la transtirretina que frecuentemente presenta afeccion cardiaca debido al deposito de amiloide en el miocardio. Nuestro objetivo es describir esta afeccion en una cohorte espanola. Metodos Estudio retrospectivo multicentrico de pacientes con ATTRv y afeccion cardiaca provenientes de centros espanoles. Se recogieron datos demograficos, clinicos y geneticos. Resultados En 26 centros se incluyo a 181 pacientes, el 65,2% varones, con una mediana de edad al diagnostico de 62 anos. Las mutaciones mas frecuentes fueron Val50Met (67,7%) y Val142Ile (12,4%). El principal motivo de consulta fue extracardiaco (69%), principalmente neurologico. La media de la fraccion aminoterminal del propeptido natriuretico cerebral (NT-proBNP) fue 2.145 ± 3.586 pg/ml. Lo mas caracteristico del electrocardiograma fueron el patron de seudoinfarto (25,9%) y el bloqueo auriculoventricular (25,3%). El grosor ventricular medio fue 15,4 ± 4,1 mm. El strain longitudinal estaba reducido en segmentos basales en el 29,4%. Se observo realce tardio subendocardico difuso en el 58,8%. En la gammagrafia habia captacion de grados 2-3 en un 75%. En el seguimiento, el 24,9% ingreso por insuficiencia cardiaca, el 34,3% preciso marcapasos y el 31,6%, trasplante hepatico. El 32,5% fallecio, principalmente por insuficiencia cardiaca (28,8%). Las mutaciones diferentes de Val50Met se asociaron en general con un peor pronostico. Conclusiones La ATTRv cardiaca en Espana tiene un espectro genetico y de afeccion heterogeneo. El pronostico es malo principalmente por las complicaciones cardiacas, por lo que son esenciales un diagnostico y un tratamiento precoces.

Introduction and objectives Hereditary transthyretin amyloidosis (hATTR) is a disease caused by mutations in the transthyretin gene that frequently shows cardiac involvement due to amyloid deposition in the myocardium. Our objective was to identify cardiac involvement in a Spanish cohort. Methods Retrospective multicenter study of patients diagnosed with hATTR with cardiac involvement from Spanish centers. We collected demographic, clinical, and genetic data. Results A total of 181 patients from 26 centers were included (65.2% men, with a median age at diagnosis of 62 years). The most frequent mutations were Val50Met (67.7%) and Val142Ile (12.4%). The main reason for consultation was extracardiac symptoms (69%), mainly neurological. The mean N-terminal pro-B-type natriuretic peptide level was 2145±3586 pg/mL. The most characteristic electrocardiogram findings were a pseudoinfarct pattern (25.9%) and atrioventricular block (25.3%). Mean ventricular thickness was 15.4±4.1mm. Longitudinal strain was reduced in basal segments by 29.4%. Late diffuse subendocardial enhancement was observed in 58.8%. Perugini grade 2 or 3 uptake was observed in 75% of scintigraphy scans. During follow-up, 24.9% of the patients were admitted for heart failure, 34.3% required a pacemaker, and 31.6% required a liver transplant. One third (32.5%) died during follow-up, mainly due to heart failure (28.8%). The presence of non-Val50Met mutations was associated with a worse prognosis. Conclusions HATTR cardiac amyloidosis in Spain shows heterogeneous genetic and clinical involvement. The prognosis is poor, mainly due to cardiac complications. Consequently early diagnosis and treatment are vital.

Resumen Introduccion y objetivos La exposicion a radiacion ionizante en los procedimientos de ablacion conlleva riesgos para la salud, sobre todo en pacientes pediatricos. Nuestro objetivo es comparar la seguridad y la eficacia de la ablacion guiada por un sistema de navegacion intracardiaca no fluoroscopica (SNINF) con las de la ablacion guiada exclusivamente por fluoroscopia en pacientes pediatricos. Metodos Se analizaron los resultados de la ablacion con cateter en pacientes pediatricos con vias accesorias de riesgo o taquicardias supraventriculares remitidos a nuestro centro en un periodo de 6 anos. Se compararon los procedimientos guiados solo por fluoroscopia (grupo A) y los guiados por SNINF (grupo B). Resultados Se analizaron 120 procedimientos de ablacion en 110 pacientes (edad, 11 ± 3,2 anos; el 70% varones), 62 procedimientos en el grupo A y 58 en el grupo B. No se encontraron diferencias significativas entre ambos grupos en exito del procedimiento (el 95% del grupo A y el 93,5% del grupo B; p = 0,53), complicaciones (el 1,7 frente al 1,6%; p = 0,23) y recurrencia (el 7,3 frente al 6,9%; p = 0,61). Sin embargo, el tiempo de fluoroscopia (mediana, 1,1 frente a 12 min; p Conclusiones El SNINF para guiar los procedimientos de ablacion en pacientes pediatricos reduce el tiempo de exposicion a la radiacion ionizante. Su empleo generalizado en las ablaciones pediatricas podria reducir el riesgo atribuido a la radiacion.

INTRODUCTION AND OBJECTIVES Ionizing radiation exposure in catheter ablation procedures carries health risks, especially in pediatric patients. Our aim was to compare the safety and efficacy of catheter ablation guided by a nonfluoroscopic intracardiac navigation system (NFINS) with those of an exclusively fluoroscopy-guided approach in pediatric patients. METHODS We analyzed catheter ablation results in pediatric patients with high-risk accessory pathways or supraventricular tachycardia referred to our center during a 6-year period. We compared fluoroscopy-guided procedures (group A) with NFINS guided procedures (group B). RESULTS We analyzed 120 catheter ablation procedures in 110 pediatric patients (11±3.2 years, 70% male); there were 62 procedures in group A and 58 in group B. We found no significant differences between the 2 groups in procedure success (95% group A vs 93.5% group B; P=.53), complications (1.7% vs 1.6%; P=.23), or recurrences (7.3% vs 6.9%; P = .61). However, fluoroscopy time (median 1.1minutes vs 12minutes; P

Instituto de Salud Carlos III (ISCIII), European Regional Development Fund/European Social Fund "A way to make Europe"/" Investing in your future" [PI18/0004, PI20/0320, PT17/0015/0043]; ISCIII; MCIN; Pro-CNIC Foundation; Severo Ochoa Centers of Excellence program [CEX2020-001041-S]; ISCIII [CM20/00101], Frutos F. de, Ochoa JP, Navarro-Peñalver M, Baas A, Bjerre JV, Zorio E, Méndez I, Lorca R, Verdonschot JAJ, García-Granja PE, Bilinska Z, Fatkin D, Fuentes-Cañamero ME, García-Pinilla JM, García-Álvarez MI, Girolami F, Barriales-Villa R, Díez-López C, Lopes LR, Wahbi K, García-Álvarez A, Rodríguez-Sánchez I, Rekondo-Olaetxea J, Rodríguez-Palomares JF, Gallego-Delgado M, Meder B, Kubanek M, Hansen FG, Restrepo-Córdoba MA, Palomino-Doza J, Ruiz-Guerrero L, Sarquella-Brugada G, Perez-Perez AJ, Bermúdez-Jiménez FJ, Ripoll-Vera T, Rasmussen TB, Jansen M, Sabater-Molina M, Elliot PM, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators

BackgroundIn a family with inappropriate sinus tachycardia (IST) we identified a novel mutation (p.V240M) of the hyperpolarization-activated cyclic nucleotide-gated type 4 (HCN4) channel, which contributes to the pacemaker current (If) in human sinoatrial node cells. Here we clinically study the family and functionally analyze the p.V240M variant.MethodsMacroscopic (IHCN4) and single-channel currents were recorded using patch-clamp in cells expressing human native (WT) and/or p.V240M HCN4 channels.ResultsAll p.V240M mutation carriers exhibited IST (mean heart rate 113[7] bpm, n=9), that in adults, was accompanied by cardiomyopathy. IHCN4generated by p.V240M channels either alone or in combination with WT was significantly greater than that generated by WT channels. The variant, which lies in the N-terminal HCN domain, increased single-channel conductance and opening frequency and probability of HCN4 channels. Conversely, it did not modify channel sensitivity for cAMP and ivabradine or the level of expression at the membrane. Treatment with ivabradine based on functional data reversed the IST and the cardiomyopathy of the carriers.ConclusionsThe p.V240M gain-of-function variant increases Ifduring diastole, which explains the IST of the carriers. The results demonstrate the importance of the unique HCN domain in HCN4 which stabilizes the channels in the closed state.FundingMinisterio de Ciencia e Innovación (PID2020-118694RB-I00); Comunidad Autónoma de Madrid (P2022/BMD-7229), European Structural and Investment Funds); and Instituto de Salud Carlos III (CIBERCV; CB16/11/00303).

Background Catheter ablation of premature ventricular complexes from aortic sinus cusps (ASC‐PVC) is a complex procedure that conventionally requires coronary catheterization (CC) to localize coronary artery ostium (CAO). Little published information is available on the mapping and ablation with zero‐fluoroscopy (ZF) of ASC‐PVC. The aim of the study was to determine the efficacy and safety of ASC‐PVC ablation with a ZF approach guided by 3D intracardiac echocardiography integration in the electroanatomical mapping system (ICE 3D‐EAM). Methods This observational study included one patient cohort treated conventionally and another treated with ICE 3D‐EAM‐guided ZF ablation. Clinical, efficacy, and safety outcomes were evaluated acutely and at 3 months follow‐up. Results The study included 21 patients with ASC‐PVC: 10 in the ZF group (age 49 ± 16 years, 60% males) and 11 in the control group (age 47 ± 15 years, 27% males). Fluoroscopy was not required for any patient in the ZF group. Acute success was obtained in 80% of the ZF group vs 55% of the control group (P = .36). The recurrence rate was 30% in the ZF group vs 27% in the control group (P = 1). One nonsevere complication was observed in the ZF group (P = .48). Conclusions ZF catheter ablation of ASC‐PVC guided by ICE 3D‐EAM is feasible, effective, and safe., The graphical abstract shows the workflow for ZF ablation approach of ASC‐PVC using ICE 3D‐EAM. The key point is the ICE 3D‐EAM reconstruction which allows to assess the distance of the ablation catheter tip to CAO. Note that if the distance is at least >5 mm from earliest LVAT to CAO, the ablation is started. On the other hand, with a distance

Left ventricular noncompaction (LVNC) is a heterogeneous entity with uncertain prognosis. This study sought to develop and validate a prediction model of major adverse cardiovascular events (MACE) and to identify LVNC cases without events during long-term follow-up. This is a retrospective longitudinal multicenter cohort study of consecutive patients fulfilling LVNC criteria by echocardiography or cardiovascular magnetic resonance. MACE were defined as heart failure (HF), ventricular arrhythmias (VAs), systemic embolisms, or all-cause mortality. A total of 585 patients were included (45 ± 20 years of age, 57% male). LV ejection fraction (LVEF) was 48% ± 17%, and 18% presented late gadolinium enhancement (LGE). After a median follow-up of 5.1 years, MACE occurred in 223 (38%) patients: HF in 110 (19%), VAs in 87 (15%), systemic embolisms in 18 (3%), and 34 (6%) died. LVEF was the main variable independently associated with MACE (P < 0.05). LGE was associated with HF and VAs in patients with LVEF >35% (P < 0.05). A prediction model of MACE was developed using Cox regression, composed by age, sex, electrocardiography, cardiovascular risk factors, LVEF, and family aggregation. C-index was 0.72 (95% confidence interval: 0.67-0.75) in the derivation cohort and 0.72 (95% confidence interval: 0.71-0.73) in an external validation cohort. Patients with no electrocardiogram abnormalities, LVEF ≥50%, no LGE, and negative family screening presented no MACE at follow-up. LVNC is associated with an increased risk of heart failure and ventricular arrhythmias. LVEF is the variable most strongly associated with MACE; however, LGE confers additional risk in patients without severe systolic dysfunction. A risk prediction model is developed and validated to guide management. The project was partially funded by a grant from the Catalan Society of Cardiology (Barcelona, Spain). Hospital Universitario Virgen de la Arrixaca (Murcia, Spain) was supported by a grant from the Foundation Marató TV3 (218/C/2015) (Barcelona, Spain). Hospital Universitario y Politécnico La Fe (Valencia, Spain) was partially supported by Fondo Europeo de Desarrollo Regional (“Unión Europea, Una forma de hacer Europa”) (Madrid, Spain) and the Instituto de Salud Carlos III (La Fe Biobank PT17/0015/ 0043) (Madrid, Spain). Dr Guala was supported by funding from the Spanish Ministry of Science, Innovation and Universities (IJC2018-037349-I) (Madrid, Spain). Dr La Mura was supported by a research grant from the Cardiopath PhD program (Naples, Italy). Prof de la Pompa was supported by grants PID2019-104776RB-I00 and CB16/11/00399 (CIBER CV) from the Spanish Ministry of Science, Innovation and Universities. Dr Bayes-Genis was supported by grants from CIBER Cardiovascular (CB16/11/00403 and 16/11/00420) (Madrid, Spain) and AdvanceCat 2014-2020 (Barcelona, Spain); and has received advisory board and lecture fees from Novartis, Boehringer Ingelheim, Vifor, Roche Diagnostics, and Critical Diagnostics. Dr Pontone has received speaker honorarium and/or institutional research grants from GE Healthcare, Bracco, Boehringer Ingelheim, and HeartFlow. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose. Sí

Aims: Dilated cardiomyopathy (DCM) associated with dystrophin gene (DMD) mutations in individuals with mild or absent skeletal myopathy is often indistinguishable from other DCM forms. We sought to describe the phenotype and prognosis of DMD associated DCM in DMD mutation carriers without severe skeletal myopathy. Methods and results: At 26 European centres, we retrospectively collected clinical characteristics and outcomes of 223 DMD mutation carriers (83% male, 33 ± 15 years). A total of 112 individuals (52%) had DCM at first evaluation [n = 85; left ventricular ejection fraction (LVEF) 34 ± 11.2%] or developed DCM (n = 27; LVEF 41.3 ± 7.5%) after a median follow-up of 96 months (interquartile range 5–311 months). DCM penetrance was 45% in carriers older than 40 years. DCM appeared earlier in males and was independent of the type of mutation, presence of skeletal myopathy, or elevated serum creatine kinase levels. Major adverse cardiac events (MACE) occurred in 22% individuals with DCM, 18% developed end-stage heart failure and 9% sudden cardiac death or equivalent. Skeletal myopathy was not associated with survival free of MACE in patients with DCM. Decreased LVEF and increased left ventricular end-diastolic diameter at baseline were associated with MACE. Individuals without DCM had favourable prognosis without MACE or death during follow-up. Conclusions: DMD-associated DCM without severe skeletal myopathy is characterized by incomplete penetrance but high risk of MACE, including progression to end-stage heart failure and ventricular arrhythmias. DCM onset is the major determinant of prognosis with similar survival regardless of the presence of skeletal myopathy.

ObjectivesThis study aimed to investigate the association of accelerometer-measured lifestyle physical activity with the incidence of rapid-rate non-sustained ventricular tachycardias (RR-NSVT) during a 30-day recording period in AC patients.MethodsThis multicenter, observational study enrolled 72 AC patients, including right, left-, and biventricular forms of the disease, with underlying desmosomal and non desmosomal mutations. Lifestyle physical activity was objectively monitored with accelerometers (i.e., movement sensors), and RR-NSVT were identified from a textile Holter electrocardiogram (ECG) for 30 days as those faster than 188 bpm and longer than 18 beats.ResultsSixty-three AC patients (38±17.6 years, 57% men) provided data on physical activity and ventricular tachycardias. A total of 17 patients experienced 1 ≥ RR-NSVTs, and a total of 35 events were recorded. Participants presenting RR-NSVTs during the 30-day measurement (n=17) did not perform more lifestyle physical activity (P=0.734), neither more activities of moderate-to-vigorous intensity (P=0.245) than their peers without RR-NSVTs in this period. Likewise, participants with RR-NSVTs did not increase their activity level, neither the activities of any intensity (−5 min/day on average) nor those of moderate-to-vigorous intensity (+2 min/day on average) in the days of RR-NSVTs occurrence. Finally, we observed that around half of the RR-NSVTs recorded in the 30 days occurred at rest (i.e., 19 RR-NSVTs), and the other half occurred after or during physical activity (i.e.,16 RR-NSVTs).ConclusionThese findings suggest that lifestyle physical activity, mainly of light and moderate intensity, does not increase the risk for RR-NSVTs in AC patients.Summary boxWhat is already knownArrhythmogenic cardiomyopathy (AC) is associated to sport-triggered sudden cardiac deathCompetitive sports and high-intensity exercise are contraindicated in AC patientsRapid-rate non-sustained ventricular arrhythmias (RR-NSVT) are a surrogate of sudden cardiac death in this populationWhat this study addsConscious investigation on the relationship between lifestyle physical activity of different intensities with ventricular arrhythmias in AC patientsAccelerometer-measured lifestyle physical activity, mainly of light and moderate intensity, seem not to be associated with the occurrence of RR-NSVTsHow this study might affect clinical practice in the futureThis study provides strong evidence for the promotion of lifestyle physical activity among AC patients to ensure they obtain the multiple benefits and risk reductions associated with physical activity

Resumen Introduccion y objetivos Segun las guias de muerte subita, se debe considerar un desfibrilador automatico implantable (DAI) para los pacientes con miocardiopatia dilatada debida a variantes en el gen de la lamina (LMNA) con al menos 2 factores: varones, fraccion de eyeccion del ventriculo izquierdo (FEVI) Metodos Se evaluo la relacion entre factores de riesgo y eventos cardiovasculares en una cohorte de 140 portadores de variantes en LMNA (54 probandos, 86 familiares, edad ≥ 16 anos). Se considero: a) evento arritmico mayor (EAM) si hubo descarga apropiada del DAI o muerte subita, y b) muerte por insuficiencia cardiaca, incluidos los trasplantes. Resultados Se identificaron 11 variantes nuevas y 21 previamente publicadas. La FEVI Conclusiones En el registro REDLAMINA, los unicos 2 predictores asociados con EAM fueron la TVNS y la FEVI

Resumen En el ultimo ano se han producido importantes avances en el conocimiento de las cardiopatias familiares. En el campo de las miocardiopatias se han presentado diferentes predictores de riesgo, y se han descrito nuevos criterios diagnosticos en la miocardiopatia arritmogenica. Por otra parte, la amiloidosis cardiaca ha cobrado gran importancia, debido a los avances en las pruebas de imagen no invasivas y la reciente aprobacion de nuevos tratamientos, por lo que ha dejado de considerarse una enfermedad intratable. Respecto a las canalopatias, existen avances en el conocimiento de la correlacion del genotipo con el pronostico arritmico en el sindrome de QT largo, sindrome de Brugada y taquicardia ventricular catecolaminergica polimorfica. Se ha avanzado mucho en el campo de la muerte subita (MS), especialmente en la MS «inexplicada», ahondando en la utilidad de los estudios geneticos en su diagnostico, tanto de la MS del adulto como del lactante. Por ultimo, cabe destacar que la terapia genica ha demostrado resultados positivos en varios ensayos, en concreto los nuevos tratamientos de silenciamiento genico basados en ARN, y la nueva herramienta de edicion genica CRISPR-Cas9, capaz de escindir e incorporar fragmentos de ADN de forma precisa dentro del genoma.

Supplementary data associated with this article can befound, in the online version, at https://doi.org/10.1016/j.medcli.2021.06.015, Introduction and purpose: Atrial fibrillation (AF) is common in patients admitted with severe COVID- 19. However, there is limited data about the management of chronic anticoagulation therapy in these patients. We assessed the anticoagulation and incidence of major cardiovascular events in hospitalized patients with AF and COVID-19. Methods: We retrospectively investigated all consecutive patients with AF admitted with COVID-19 between March and May 2020 in 9 Spanish hospitals. We selected a control group of non-AF patients consecutively admitted with COVID-19. We compared baseline characteristics, incidence of major bleed- ing, thrombotic events and mortality. We used propensity score matching (PSM) to minimize potential confounding variables, as well as a multivariate analysis to predict major bleeding and death. Results: 305 patients admitted with AF and COVID-19 were included. After PSM, 151 AF patients were matched with 151 control group patients. During admission, low-molecular-weight heparin was the principal anticoagulant and the incidence of major bleeding and mortality were higher in the AF group [16 (10.6%) vs 3 (2%), p = 0.003; 52 (34.4%) vs 35 (23.2%), p = 0.03, respectively]. The multivariate analysis showed the presence of AF as independent predictor of in-hospital major bleeding and mortality in COVID-19 patients. In AF group, a secondary multivariate analysis identified high levels of D-dimer as independent predictor of in-hospital major bleeding. Conclusions: AF patients admitted with COVID-19 represent a population at high risk for bleeding and mortality during admission. It seems advisable to individualize anticoagulation therapy during admission, considering patient specific bleeding and thrombotic risk., Antecedentes y objetivos: La fibrilación auricular (FA) es frecuente en pacientes ingresados por COVID-19 grave. Sin embargo, los datos sobre el manejo de la anticoagulación crónica en estos pacientes son escasos. Analizamos la anticoagulación y la incidencia de episodios cardiovasculares mayores en pacientes con FA ingresados por la COVID-19. Métodos: Retrospectivamente, se identificaron todos los pacientes con FA ingresados por la COVID-19 entre marzo y mayo de 2020, en 9 hospitales espa ̃noles. Se seleccionó un grupo control de pacientes ingresados consecutivamente por la COVID-19 sin FA. Se compararon las características basales, inci- dencia de hemorragias mayores, episodios trombóticos y mortalidad. Para reducir potenciales factores de confusión se realizó un emparejamiento por puntuación de propensión, así como un análisis multivariante para predecir hemorragia mayor y mortalidad. Resultados: Se incluyeron 305 pacientes con FA ingresados por la COVID-19. Tras el emparejamiento por puntuación de propensión, 151 pacientes con FA fueron emparejados con 151 controles. Durante el ingreso, la heparina de bajo peso molecular fue el principal anticoagulante y la incidencia de hemorragia mayor y mortalidad fue mayor en el grupo de FA (16[10,6%] vs. 3[2%], p = 0,003; 52[34,4%] vs. 35[23,2%], p = 0,03, respectivamente). El análisis multivariante demostró la presencia de FA como predictor indepen- diente de sangrados y mortalidad intrahospitalaria en los pacientes con la COVID-19. En el grupo de FA, un segundo análisis multivariante identificó valores elevados de dímero-D como predictor independiente de hemorragia mayor intrahospitalaria. Conclusiones: Los pacientes con FA ingresados por la COVID-19 representan una población de alto riesgo de sangrado y mortalidad durante el ingreso. Parece recomendable individualizar la anticoagulación durante el ingreso, considerando el riesgo específico de sangrado y trombosis.

IntroductionRegular exercise and sports are contraindicated in arrhythmogenic cardiomyopathy (AC) patients, which might lead them to an unhealthy sedentary lifestyle. This study aimed to objectively describe the patterns of physical activity (PA), sedentary time (SED), and sleep in patients with AC, and to examine the reproducibility of accelerometer-derived measures over four consecutive weeks.MethodsA total of 71 (49.6 [SD=17.5] years) patients with AC wore a wrist-worn Axivity AX3 accelerometer for 30 consecutive days to monitor their physical activity, sedentary time, and sleep habits. The reproducibility of each metric across the 4 assessment weeks was assessed with the intraclass correlation coefficients (ICCs) derived from linear-mixed models adjusted for age, body mass index (BMI), and season.ResultsThe participants spent a median of 12.2 [IQR 2.1] h/d in SED, 6.4 [IQR 1.0] h/d sleeping, and 17.9 [IQR 24.5] min/d in moderate-to-vigorous physical activity (MVPA), and 59% of the participants did not reach the 150 min/d of MVPA recommended by the WHO for people living with chronic disease. No significant differences in PA were found by sex and age groups. Otherwise, patients aged ≥50 years (n= 33) spent 38.9 min/d (95% CI 5.8 to 72.2, p≤0.05) more in periods of ≥30 minutes of SED than those ConclusionPatients with AC engage in large periods of SED, insufficient PA and sleep. Importantly, nearly 60% of the participants did not meet the minimum amount of PA recommended by the WHO for people living with chronic diseases and only 20% met the sleep recommendations. Device-measured PA and SED are stable across weeks, indicating that a 7-day assessment period might provide a reproducible measure of PA and SED and, to a lower extent, sleep.

Introduction and objectives Atrioventricular block (AVB) in the presence of bradycardic drugs (BD) can be reversible, and pacemaker implantation is controversial. Our objective was to analyze the pacemaker implantation rate in the mid-term, after BD suspension, and to identify predictive factors. Methods We performed a cohort study that included patients attending the emergency department with high-grade AVB in the context of BD. We studied the persistence of AVB after BD discontinuation, recurrence in patients with AVB resolution, and the predictive variables associated with pacemaker requirement at 3 years. Results Of 127 patients included (age, 79 [71-83] years), BAV resolved in 60 (47.2%); among these patients, recurrence occurred during the 24-month median follow-up in 40 (66.6%). Pacemaker implantation was required in 107 patients (84.3%), despite BD discontinuation. On multivariable analysis, the variables associated with pacemaker need at 3 years were heart rate C I, 1.82-36.17), symptoms other than syncope (OR, 4.09; 95%CI, 1.18-14.13), and wide QRS (OR, 5.65; 95%CI, 1.77-18.04). Concomitant antiarrhythmic treatment was associated with AVB resolution (OR, 0.12; 95%CI, 0.02-0.66). Conclusions More than 80% of patients with AVB secondary to BD require pacemaker implantation despite drug discontinuation. Predictive variables were wide QRS, heart rate

Resumen Introduccion y objetivos El bloqueo auriculoventricular (BAV) en presencia de farmacos bradicardizantes (FBZ) puede ser reversible, y esta en controversia el implante de marcapasos. El objetivo es analizar la necesidad de tratamiento con marcapasos a medio plazo, tras la suspension de los FBZ, e identificar factores predictores. Metodos Se estudio a una cohorte de pacientes que acudieron a urgencias con BAV de alto grado mientras tomaban FBZ. Se estudio la persistencia de BAV tras la interrupcion del farmaco, la recurrencia en los pacientes con resolucion del BAV y las variables predictoras asociadas con la necesidad de marcapasos a los 3 anos de seguimiento. Resultados De 127 pacientes (edad, 79 [71-83] anos), en 60 (47,2%) se resolvio el BAV; de estos, en 40 (66,6%) el BAV recurrio en los 24 meses de seguimiento medio; 107 pacientes (84,3%) tuvieron indicacion de implante de marcapasos pese a suspenderse los FBZ. Las variables asociadas con la necesidad de marcapasos a los 3 anos en el multivariable fueron: frecuencia cardiaca Conclusiones Mas del 80% de los pacientes con BAV secundario a FBZ precisan implante de marcapasos a pesar de suspenderlos; los predictores son el QRS ancho, la frecuencia cardiaca

Introduction and objectives Several studies have linked the presence of atrial fibrillation (AF) with reduced estimated glomerular filtration rate (eGFR). Our objective was to compare changes in eGFR in patients with AF after pulmonary vein (PV) ablation depending on the success of the technique, as well as to examine the relationship between eGFR and several biomarkers. Methods Prospective cohort of patients with AF referred to our center for PV ablation with a 1-year follow-up. We estimated eGFR using the Chronic Kidney Disease Epidemiology Collaboration formula at baseline and at 3 and 12 months. Biomarkers (B-type natriuretic peptide, corin, and galectin-3) were measured before ablation and at 12 months. Results We studied 124 patients (age 55 ± 10 years, 69.4% men). Seventy-five had paroxysmal AF (60.5%). The mean baseline eGFR was 90.8 [77.8-100.0] mL/min/1.73 m2. The eGFR increased at the end of follow-up, with a statistically significant difference between patients with recurrence at 12 months and those without (−1.1 [-6.0 to 8.8] mL/min/1.73 m2 vs 7.1 [−0.6 to 14.2] mL/min/1.73 m2, P = .017). The improvement in eGFR at 12 months was inversely proportional to baseline eGFR. B-type natriuretic peptide and corin levels improved at 12 months, while galectin-3 levels worsened, which was unrelated to eGFR. Conclusions In patients with AF treated with PV ablation, an overall improvement in eGFR was observed, which was more marked in the subgroup without recurrences, although without significant differences on multivariate analysis.

Resumen Introduccion y objetivos Varios estudios han relacionado la presencia de fibrilacion auricular (FA) con una tasa de filtrado glomerular estimada (TFGe) reducida. Nuestro objetivo es comparar la evolucion de la TFGe en pacientes con FA tras ablacion de venas pulmonares (VP) en funcion del exito de la tecnica, asi como estudiar la relacion entre TFGe y varios biomarcadores. Metodos Cohorte prospectiva de pacientes con FA remitidos a nuestro centro para ablacion de VP con seguimiento de 1 ano. La TFGe se obtuvo mediante la formula de la Chronic Kidney Disease Epidemiology Collaboration en el momento basal y a los 3 y 12 meses. Se midieron biomarcadores (peptido natriuretico cerebral, corina y galectina-3) antes de la ablacion y a los 12 meses. Resultados Se estudio a 124 pacientes (edad, 55 ± 10 anos; el 69,4% varones); 75 presentaban FA paroxistica (60,5%). La media de la TFGe basal fue de 90,8 [77,8-100,0] ml/min/1,73 m2. La TFGe se incremento al final del seguimiento, con diferencia estadisticamente significativa entre los pacientes que habian sufrido recurrencia a los 12 meses y los que no (–1,1 [–6,0 a 8,8] frente a 7,1 [–0,6 a 14,2] ml/min/1,73 m2; p = 0,017). La mejora de la TFGe a los 12 meses fue inversamente proporcional a la TFGe basal. Las cifras de peptido natriuretico cerebral y corina mejoraron a los 12 meses, mientras que los de galectina-3 empeoraron, sin relacion con la TFGe. Conclusiones En los pacientes con FA tratados con ablacion de VP, se observo una mejora general de la TFGe, mas marcada en el subgrupo que no tuvo recurrencias, aunque sin diferencias significativas en el analisis multivariante.

Introduction Pathological studies have demonstrated that the cavotricuspid isthmus (CTI) is often composed of discrete muscle bundles that correlate with high-voltage local electrograms. The main objective was to demonstrate that ablation of high-voltage muscle bundles in the cavotricuspid isthmus (CTI), identified using an intracardiac mapping system, reduces radiofrequency (RF) time compared to the conventional technique. Methods A retrospective analysis of patients who had undergone CTI ablation guided by a mapping system. The patients were divided into two groups according to operator experience and selected by propensity score-matched analysis: group A, RF delivery in high-voltage bundles and group B, RF delivery producing a contiguous line of ablation lesions along the entire CTI length. Results Thirty-eight patients [92.1% male, 64 yrs (57-70)] were selected, 19 in each group. There were no differences in baseline characteristics or clinical results: success (A: 94.7% vs B: 94.7%), complications (A: 5.3% vs B: 0%) and recurrence (A: 10.5% vs B: 5.3%). In the procedures in group A, fewer RF applications were delivered [14 (9–19) vs 20 (2–25); P

Missense mutations in the filamin C (FLNC) gene have been reported as cause of inherited cardiomyopathy. Knowledge of the pathogenicity and genotype-phenotype correlation remains scarce. Our aim was to describe a distinctive cardiac phenotype related to rare missense FLNC variants in the ROD2 domain.We recruited 21 unrelated families genetically evaluated because of hypertrophic cardiomyopathy (HCM)/restrictive cardiomyopathy (RCM) phenotype carrying rare missense variants in the ROD2 domain of FLNC (FLNC-mRod2). Carriers underwent advanced cardiac imaging and genetic cascade screening. Myocardial tissue from 3 explanted hearts of a missense FLNC carrier was histologically analyzed and compared with an FLNC-truncating variant heart sample and a healthy control. Plasmids independently containing 3 FLNC missense variants were transfected and analyzed using confocal microscopy.Eleven families (52%) with 20 assessed individuals (37 [23.7-52.7]) years showed 15 cases with a cardiac phenotype consisting of an overlap of HCM-RCM and left ventricular hypertrabeculation (saw-tooth appearance). During a median follow-up of 6.49 years, they presented with advanced heart failure: 16 (80%) diastolic dysfunction, 3 heart transplants, 3 heart failure deaths) and absence of cardiac conduction disturbances or skeletal myopathy. A total of 6 families had moderate genotype-phenotype segregation, and the remaining were de novo variants. Differential extracellular matrix remodeling and FLNC distribution among cardiomyocytes were confirmed on histology. HT1080 and H9c2 cells did not reveal cytoplasmic aggregation of mutant FLNC.FLNC-mRod2 variants show a high prevalence of an overlapped phenotype comprising RCM, HCM and deep hypertrabeculation with saw-tooth appearance and distinctive cardiac histopathological remodeling.

Introduction Arrhythmogenic Cardiomyopathy (ACM) is a life-threatening entity which predispose to malignant arrhythmias and sudden cardiac death even in early stages of the disease. Deformation techniques obtained by echocardiography are promising tools which can identify subtle pathologic changes in the myocardial wall. Our aim is to investigate how myocardial deformation parameters may be affected throughout ACM spectrum. Methods A cohort of ACM 45 subjects, was characterized using advanced transthoracic echocardiography and divided into groups according to left ventricle ejection fraction (LVEF). Twenty-three healthy volunteers were also included as control group (CG). We analyzed regional wall motion abnormalities and left ventricular myocardial deformation parameters by 2D Speckle Tracking, such as global longitudinal strain (GLS), mechanical dispersion (MD) [standard deviation (SD) and range (delta)]. Results 23 (51,1%) of the ACM cohort were men, with a mean age of 43,13±16,55 years. Next-generation sequencing identified a potential pathogenic mutation in 37 (82,2%) of the patients. Those ACM subjects with low LVEF (ACM-L) presented lower GLS values when compared to those with normal LVEF (ACM-N) (−16,17±2,68% vs. ACM-N −19,39±2,97%; p Conclusions MD may be an additive tool for identifying ACM patients in early stages of the disease when LVEF is still preserved. Funding Acknowledgement Type of funding sources: None.

Genetic variants that result in truncation in desmoplakin (DSP) are a known cause of arrhythmogenic cardiomyopathy (AC). In homozygous carriers, the combined involvement of skin and heart muscle is well defined, however, this is not the case in heterozygous carriers. The aim of this work is to describe cutaneous findings and analyze the molecular and ultrastructural cutaneous changes in this group of patients. Four women and eight men with a mean age of 48 ± 14 years were included. Eight met definitive criteria for AC, one was borderline and three were silent carriers. No relevant macroscopic changes in skin and hair were detected. However, significantly lower skin temperature (29.56 vs. 30.97 °C, p = 0.036) and higher transepidermal water loss (TEWL) (37.62 vs. 23.95 g m 2 h 1, p = 0.028) were observed compared to sex- and age-matched controls. Histopathology of the skin biopsy showed widening of intercellular spaces and acantholysis of keratinocytes in the spinous layer. Immunohistochemistry showed a strongly reduced expression of DSP in all samples. Trichogram showed regular nodules (thickening) compatible with pseudomonilethrix. Therefore, regardless of cardiac involvement, heterozygous patients with truncation-type variants in DSP have lower skin temperature and higher TEWL, constant microscopic skin involvement with specific patterns and pseudomonilethrix in the trichogram.

In Brugada syndrome, even within the same family where all affected individuals share the same mutation, phenotypic variation is prominent, with variable penetrance and expressivity, presenting different degrees of involvement. It is difficult to establish a direct correlation between genotype and phenotype to predict prognosis in complications and risk of sudden death. The factors that modulate this inter- and intra-familial phenotypic variability remain to be determined. With the intention of testing whether other genetic factors, in addition to the causal mutation in SCN5A, may have a modulating effect on the Brugada phenotype and the risk of sudden death, we have studied 8 families with a causal variant in SCN5A with at least two affected individuals, one of whom has suffered cardiac arrest or sudden death. Whole exome sequencing was performed looking for additional variants that modify the phenotype and allow us to predict a better or worse prognosis for the evolution of the disease. The results did not show any clear genetic modifier; nevertheless, highlight the possible implication of the cholesterol and fibrosis pathways, as well as the circadian rhythm, as possible modulators of Brugada syndrome phenotype.

Ablation of macroreentrant atrial tachycardia in patients with mechanical prosthetic valves represents a challenge for electrophysiologists, because of the complexity of the procedure and the potential complications. Moreover, the need for fluoroscopy in this type of procedure is greater, due to the risk of interference between the prosthetic valve and the ablation or mapping catheter. We present two cases of patients with mechanical prosthetic valves and atrial flutter who underwent successful ablation with no complications using the CartoUnivu™ tool, which integrates the electroanatomical map and the fluoroscopy image.

We present a case of sarcomeric hypertrophy cardiomyopathy diagnosed in a child who had hypertrophy degree regression during adolescence, with no left ventricular dysfunction and no increase of the ventricular diameters. (Level of Difficulty: Intermediate.), Graphical abstract, We present a case of sarcomeric hypertrophy cardiomyopathy diagnosed in a child who had hypertrophy degree regression during adolescence, with no left ventricular…