Análisis del ECG para la detección automática del patrón característico del síndrome de Brugada

El síndrome de Brugada es una enfermedad hereditaria caracterizada por un patrón electrocardiográfico característico, así como por un aumento del riesgo de sufrir arritmias cardíacas y muerte súbita. No existen actualmente indicadores objetivos que permitan determinar el riesgo individual, por lo que la elegibilidad para la implantación de desfibriladores automáticos implantables con el fin de prevenir eventos de muerte súbita genera todavía gran controversia. Dado que el electrocardiograma (ECG) proporciona información cardíaca de forma no invasiva, se presenta un algoritmo automático capaz de detectar parámetros electrocardiográficos relevantes en la enfermedad. De este modo, futuros estudios que incluyan grandes series de pacientes permitirán determinar el valor pronóstico de las diferentes variables detectadas. El algoritmo integra funciones disponibles previamente desarrolladas para la lectura y delineación de señales ECG y propone una expansión centrada en la detección de parámetros como la carga de latidos con patrón de Brugada, elevación del segmento ST, duración del segmento ST y de los intervalos PR, QRS y QTc, la variabilidad del ritmo cardíaco (VRC), la alternancia de la onda T o la carga de extrasístoles ventriculares, entre otros. El código se testeó en registros ECG continuos de 12 derivaciones y 24 horas de duración de dos pacientes con diferentes grados de severidad y un caso control, obteniendo tendencias relacionadas con la VRC y la carga de latidos con patrón de Brugada. Asimismo, se analizaron diferentes colocaciones de los electrodos con el objetivo de concluir la configuración más sensible para la detección del patrón característico.Postprint (published version

Recent Advances in Short QT Syndrome

Short QT syndrome is a highly malignant inherited cardiac disease characterized by ventricular tachyarrhythmias leading to syncope and sudden cardiac death. It is responsible of lethal episodes in young people, mainly infants. International guidelines establish diagnostic criteria with the presence of a QTc ≤ 340 ms in the electrocardiogram despite clinical diagnostic values remain controversial. In last years, clinical diagnosis, risk stratification as well as preventive therapies have been improved due to identification of pathophysiological mechanisms. The only effective option is implantation of a defibrillator despite Quinidine may be at times an effective option. Currently, a limited number of rare variants have been identified in seven genes, which account for nearly 20–30% of families. However, some of these variants are associated with phenotypes showing a shorter QT interval but no conclusive diagnosis of Short QT syndrome. Therefore, an exhaustive interpretation of each variant and a close genotype-phenotype correlation is necessary before clinical translation. Here, we review the main clinical and genetic hallmarks of this rare entity

Outcomes of conduction system pacing compared to right ventricular pacing as a primary strategy for treating bradyarrhythmia: systematic review and meta-analysis

Background Right ventricular pacing (RVP) may cause electrical and mechanical desynchrony leading to impaired left ventricular ejection fraction (LVEF). We investigated the outcomes of RVP with His bundle pacing (HBP) and left bundle branch pacing (LBBP) for patients requiring a de novo permanent pacemaker (PPM) for bradyarrhythmia. Methods and results Systematic review of randomized clinical trials and observational studies comparing HBP or LBP with RVP for de novo PPM implantation between 01 January 2013 and 17 November 2020 was performed. Random and fixed effects meta-analyses of the effect of pacing technology on outcomes were performed. Study outcomes included all-cause mortality, heart failure hospitalization (HFH), LVEF, QRS duration, lead revision, atrial fibrillation, procedure parameters, and pacing metrics. Overall, 9 studies were included (6 observational, 3 randomised). HBP compared with RVP was associated with decreased HFH (risk ratio [RR] 0.68, 95% confidence interval [CI] 0.49–0.94), preservation of LVEF (mean difference [MD] 0.81, 95% CI − 1.23 to 2.85 vs. − 5.72, 95% CI − 7.64 to -3.79), increased procedure duration (MD 15.17 min, 95% CI 11.30–19.04), and increased lead revisions (RR 5.83, 95% CI 2.17–15.70, p = 0.0005). LBBP compared with RVP was associated with shorter paced QRS durations (MD 5.6 ms, 95% CI − 6.4 to 17.6) vs. (51.0 ms, 95% CI 39.2–62.9) and increased procedure duration (MD 37.78 min, 95% CI 20.04–55.51). Conclusion Of the limited studies published, this meta-analysis found that HBP and LBBP were superior to RVP in maintaining physiological ventricular activation as an initial pacing strategy

Update on Genes Associated with Arrhythmogenic Cardiomyopathy

Arrhythmogenic cardiomyopathy is a rare genetic entity characterized by progressive fibro-fatty replacement of myocardium leading to malignant arrhythmias, syncope, and sudden cardiac death. Mostly it affects the right ventricle, but cases have also been described with biventricular and even isolated left ventricular involvement. The disease affects mainly young males and arrhythmias are usually induced by exercise. Arrhythmogenic cardiomyopathy has a genetic origin and is basically caused by deleterious alterations in genes encoding desmosomal proteins, especially plakophilin-2. To date, more than 400 rare genetic alterations have been identified in 18 genes, mainly with autosomal dominant inheritance, but some recessive forms have also been reported (Naxos disease and Carvajal syndrome). A comprehensive genetic analysis identifies a rare variant as potential cause of the disease in around 60% of patients, suggesting the existence of unknown genes as well as other genome alterations not yet discovered. Genetic interpretation classifies some of these rare variants as ambiguous, playing an uncertain role in arrhythmogenic cardiomyopathy. This makes a proper translation of genetic data into clinical practice difficult. Moreover, incomplete penetrance and variable phenotypic expression makes it difficult to arrive at the correct diagnosis. In the present chapter, we focus on recent advances in the knowledge regarding the genetic basis of arrhythmogenic cardiomyopathy

Malignant Arrhythmogenic Role Associated with RBM20: A Comprehensive Interpretation Focused on a Personalized Approach

The RBM20 gene encodes the muscle-specific splicing factor RNA-binding motif 20, a regulator of heart-specific alternative splicing. Nearly 40 potentially deleterious variants in RBM20 have been reported in the last ten years, being found to be associated with highly arrhythmogenic events in familial dilated cardiomyopathy. Frequently, malignant arrhythmias can be a primary manifestation of disease. The early recognition of arrhythmic genotypes is crucial in avoiding lethal episodes, as it may have an impact on the adoption of personalized preventive measures. Our study performs a comprehensive update of data concerning rare variants in RBM20 that are associated with malignant arrhythmogenic phenotypes with a focus on personalized medicine.This work was supported by Obra Social "La Caixa Foundation" (LCF/PR/GN16/50290001 and LCF/PR/GN19/50320002), Fondo Investigacion Sanitaria (FIS PI16/01203 and FIS, PI17/01690) from Instituto Salud Carlos III (ISCIII), and "Fundacio Privada Daniel Bravo Andreu". CIBERCV is an initiative of the ISCIII, Spanish Ministry of Economy and Competitiveness