Case Report: A Novel NKX2-5 Mutation in a Family With Congenital Heart Defects, Left Ventricular Non-compaction, Conduction Disease, and Sudden Cardiac Death

by Paula Morlanes-Gracia, Guido Antoniutti, Jorge Alvarez-Rubio, Jorge Alvarez-Rubio, Laura Torres-Juan, Laura Torres-Juan, Damian Heine-Suñer, Damian Heine-Suñer, Tomás Ripoll-Vera, Tomás Ripoll-Vera, Tomás Ripoll-Vera
Published 2021-07-01

Negative screening of Fabry disease in patients with conduction disorders requiring a pacemaker

by Ángela López-Sainz, Vicente Climent, Tomas Ripoll-Vera, Maria Angeles Espinosa, Roberto Barriales-Villa, Marina Navarro, Javier Limeres, Diana Domingo, David C. Kasper, Pablo Garcia-Pavia
Published 2019-07-01

Diagnostic Yield of Genetic Testing in Sudden Cardiac Death with Autopsy Findings of Uncertain Significance

by Mercedes Iglesias, Tomas Ripoll-Vera, Consuelo Perez-Luengo, Ana Belen García, Susana Moyano, Juan Carlos Canos, Juan Carlos Borondo, Jorge Alvarez, Damian Heine-Suñer, Bernardino Barcelo
Published 2021-04-01

Val50Met hereditary transthyretin amyloidosis: not just a medical problem, but a psychosocial burden

by Juan González-Moreno, Aina Gaya-Barroso, Inés Losada-López, Adrián Rodríguez, Teresa Bosch-Rovira, Tomás Ripoll-Vera, Mercedes Usón, Antoni Figuerola, Cristina Descals, Carles Montalà, María Asunción Ferrer-Nadal, Eugenia Cisneros-Barroso
Published 2021-06-01

ESC EORP Cardiomyopathy Registry: real‐life practice of genetic counselling and testing in adult cardiomyopathy patients

by Tiina Heliö, Perry Elliott, Juha W. Koskenvuo, Juan R. Gimeno, Luigi Tavazzi, Michal Tendera, Juan Pablo Kaski, Nicolas Mansencal, Zofia Bilińska, Gerry Carr‐White, Thibaud Damy, Andrea Frustaci, Ingrid Kindermann, Tomas Ripoll‐Vera, Jelena Čelutkienė, Anna Axelsson, Massimiliano Lorenzini, Aly Saad, Aldo P. Maggioni, Cécile Laroche, Alida L.P. Caforio, Philippe Charron, EORP Cardiomyopathy Registry Investigators Group
Published 2020-10-01