Pediatric Malignant Arrhythmias Caused by Rare Homozygous Genetic Variants in TRDN: A Comprehensive Interpretation

Autor: Georgia Sarquella-Brugada, Anna Fernandez-Falgueras, Sergi Cesar, Elena Arbelo, Paloma Jordà, Ana García-Álvarez, Jose Carlos Cruzalegui, Erika Fernanda Merchan, Victoria Fiol, Josep Brugada, Ramon Brugada, Oscar Campuzano

Publikováno v: Frontiers in Pediatrics, Vol 8 (2021)

Aim: To perform a comprehensive phenotype-genotype correlation of all rare variants in Triadin leading to malignant arrhythmias in pediatrics.Methods: Triadin knockout syndrome is a rare entity reported in pediatric population. This syndrome is cause

Externí odkaz: https://doaj.org/article/666d444904704b888b1bb250ffd73c41

Arrhythmic risk prediction in arrhythmogenic right ventricular cardiomyopathy: external validation of the arrhythmogenic right ventricular cardiomyopathy risk calculator

Autor: Paloma Jordà, Laurens P Bosman, Alessio Gasperetti, Andrea Mazzanti, Jean Baptiste Gourraud, Brianna Davies, Tanja Charlotte Frederiksen, Zoraida Moreno Weidmann, Andrea Di Marco, Jason D Roberts, Ciorsti MacIntyre, Colette Seifer, Antoine Delinière, Wael Alqarawi, Deni Kukavica, Damien Minois, Alessandro Trancuccio, Marine Arnaud, Mattia Targetti, Annamaria Martino, Giada Oliviero, Daniel C Pipilas, Corrado Carbucicchio, Paolo Compagnucci, Antonio Dello Russo, Iacopo Olivotto, Leonardo Calò, Steven A Lubitz, Michael J Cutler, Philippe Chevalier, Elena Arbelo, Silvia Giuliana Priori, Jeffrey S Healey, Hugh Calkins, Michela Casella, Henrik Kjærulf Jensen, Claudio Tondo, Rafik Tadros, Cynthia A James, Andrew D Krahn, Julia Cadrin-Tourigny

Publikováno v: EUROPEAN HEART JOURNAL
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Jordà, P, Bosman, L P, Gasperetti, A, Mazzanti, A, Gourraud, J B, Davies, B, Frederiksen, T C, Weidmann, Z M, Di Marco, A, Roberts, J D, MacIntyre, C, Seifer, C, Delinière, A, Alqarawi, W, Kukavica, D, Minois, D, Trancuccio, A, Arnaud, M, Targetti, M, Martino, A, Oliviero, G, Pipilas, D C, Carbucicchio, C, Compagnucci, P, Dello Russo, A, Olivotto, I, Calò, L, Lubitz, S A, Cutler, M J, Chevalier, P, Arbelo, E, Priori, S G, Healey, J S, Calkins, H, Casella, M, Jensen, H K, Tondo, C, Tadros, R, James, C A, Krahn, A D & Cadrin-Tourigny, J 2022, ' Arrhythmic risk prediction in arrhythmogenic right ventricular cardiomyopathy : external validation of the arrhythmogenic right ventricular cardiomyopathy risk calculator ', European Heart Journal, vol. 43, no. 32, pp. 3041-3052 . https://doi.org/10.1093/eurheartj/ehac289

Arrhythmogenic right ventricular cardiomyopathy (ARVC) causes ventricular arrhythmias (VAs) and sudden cardiac death (SCD). In 2019, a risk prediction model that estimates the 5-year risk of incident VAs in ARVC was developed (ARVCrisk.com). This stu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41adc8f0d33efa0af60eacfa438dc3b5
https://doi.org/10.1093/eurheartj/ehac289

Large scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy

Autor: Andrew Harper, Elizabeth Ormondroyd, Paloma Jordà

Hypertrophic cardiomyopathy (HCM) is an important cause of morbidity and mortality with both monogenic and polygenic components. We here report results from the largest HCM genome-wide association study (GWAS) and multi-trait analysis (MTAG) includin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b096ea149b4cef3a6f584f75f7ecca4d
https://doi.org/10.1101/2023.01.28.23285147

Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathy

Autor: Ruxandra Jurcut, Andrea Ros, Luisa Politano, Juan Jiménez-Jáimez, Pablo García-Pavía, Ali Yilmaz, Job A J Verdonschot, Alberto Palladino, María I. García-Álvarez, Luis Ruiz-Guerrero, Karim Wahbi, Ana García-Álvarez, Luis R. Lopes, Michael Arad, Maria Teresa Basurte Elorz, Jens Mogensen, Roberto Barriales-Villa, Paloma Jordà, José M. Larrañaga-Moreira, Francisco Bermúdez-Jiménez, Zofia T. Bilińska, Benjamin Meder, Rosa L. E. van Loon, Zornitsa Shomanova, Tanya Stojkovic, Francesca Girolami, Miloš Kubánek, Julián Palomino-Doza, Perry M. Elliott, Torsten Bloch Rasmussen, Dov Freimark, Maria Robledo Iñarritu, María Alejandra Restrepo-Córdoba, Giovanni Quarta, Pascal Laforêt, Anca Florian, Juan Pablo Ochoa, Regina Pribe-Wolferts, Ramon Brugada, Rasmus B Hansen, Vicente Climent-Payá, Fernando Domínguez, José Rodríguez-Palomares

Publikováno v: European journal of heart failure, 23(8), 1276-1286. Wiley
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
instname
Restrepo-Cordoba, M A, Wahbi, K, Florian, A R, Jiménez-Jáimez, J, Politano, L, Arad, M, Climent-Paya, V, Garcia-Alvarez, A, Hansen, R B, Larrañaga-Moreira, J M, Kubanek, M, Lopes, L R, Ros, A, Jurcut, R, Rasmussen, T B, Ruiz-Guerrero, L, Pribe-Wolferts, R, Palomino-Doza, J, Bilinska, Z, Rodríguez-Palomares, J F, Van Loon, R L E, Basurte Elorz, M T, Quarta, G, Robledo Iñarritu, M, Verdonschot, J A J, Stojkovic, T, Shomanova, Z, Bermudez-Jimenez, F, Palladino, A, Freimark, D, García-Álvarez, M I, Jorda, P, Dominguez, F, Ochoa, J P, Girolami, F, Brugada, R, Meder, B, Barriales-Villa, R, Mogensen, J, Laforêt, P, Yilmaz, A, Elliott, P, Garcia-Pavia, P & for the European Genetic Cardiomyopathies Initiative Investigators (see online supplementary Appendix S1) 2021, ' Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathy ', European Journal of Heart Failure, vol. 23, no. 8, pp. 1276-1286 . https://doi.org/10.1002/ejhf.2250

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 associat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1780331ac79e5fb7857261abd885ef77
https://doi.org/10.1002/ejhf.2250

Electromechanical delay by speckle-tracking echocardiography: A novel tool to distinguish between Brugada syndrome and isolated right bundle branch block

Autor: Paloma Jordà, Maria Sanz-de la Garza, Josep Brugada, L Nunno, Flavio D'Ascenzi, Tommaso Marzotti, Benedetta Maria Natali, Marta Sitges, Francesca Anselmi, Pietro Piu, Sergio Mondillo, Federica Aprile, Elena Arbelo

Publikováno v: International Journal of Cardiology. 320:161-167

The electrocardiographic (ECG) definition of Brugada syndrome (BS) can be challenging because benign ECG abnormalities, such as right bundle branch block (RBBB), may mimic pathological ECG characteristics of BrS. However, although myocardial delay an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82f5307f45a59bbf7122ef3a87a426f6
https://doi.org/10.1016/j.ijcard.2020.06.029