C048 – Cardiovascular Genetics

Objectives

The main objective is the knowledge of the genetic bases of cardiovascular disease in general, focusing mainly on:
– Genetics of familial heart disease
– Genetics of chemotherapy-induced cardiotoxicity
– Genetics of common cardiovascular disease
– Pharmacogenetics of flecainide in atrial fibrillation

Lines of research

• Genetics of familial heart disease: improving genetic diagnosis
• Genetic evaluation of chemotherapy-induced cardiotoxicity
• Pharmacogenetics of flecainide in patients with atrial fibrillation
• Search for genetic risk variation in common cardiovascular disease

• Escobar-Lopez L, Ochoa JP, Mirelis JG, Espinosa MÁ, Navarro M, Gallego-Delgado M, Barriales-Villa R, Robles-Mezcua A, Basurte-Elorz MT, Gutiérrez García-Moreno L, Climent V, Jiménez-Jaimez J, Mogollón-Jiménez MV, Lopez J, Peña-Peña ML, García-Álvarez A, Brion M, Ripoll-Vera T, Palomino-Doza J, Tirón C, Idiazabal U, Brögger MN, García-Hernández S, Restrepo-Córdoba MA, Gonzalez-Lopez E, Méndez I, Sabater M, Villacorta E, Larrañaga-Moreira JM, Abecia A, Fernández AI, García-Pinilla JM, Rodríguez-Palomares JF, Gimeno-Blanes JR, Bayes-Genis A, Lara-Pezzi E, Domínguez F, Garcia-Pavia P. Association of Genetic Variants With Outcomes in Patients With Nonischemic Dilated Cardiomyopathy. J Am Coll Cardio . 2021;78(17):1682-1699. doi: 10.1016/j.jacc.2021.08.039
• Akira Mori A, Reinel de Castro, Hernandes Bortolin R, Medeiros Bastos G, Fernandes de Oliveira V, Monteiro Ferreira G, Dominguez Crespo Hirata T, Moreno Fajardo C, Ferraz Sampaio M, Ribeiro Moreira DA, Pachon-Mateos JC, de Barros Correia E, Guerra de Moraes Rego Sousa A, Brion M, Carracedo A, Dominguez Crespo Hirata R, Hiroyuki Hirata M. Association of variants in MYH7, MYBPC3 and TNNT2 with sudden cardiac death-related risk factors in Brazilian patients with hypertrophic cardiomyopathy. FSI Genet. 2021; 52:102478. doi: 10.1016/j.fsigen.2021.102478
• Eiras S, Álvarez E, Brión M, González-Juanatey JR. COVID-19 and treatment guided by biochemical and molecular diagnostic tests to reduce myocardial damage and cardiotoxicity. Rev Esp Cardiol (Engl Ed). 2020;73(8):691-693. doi: 10.1016/j.rec.2020.05.009
• Grassi S, Campuzano O, Coll M, Brión M, Arena V, Iglesias A; Carracedo A, Brugada R, Oliva A. Genetic variants of uncertain significance: how to match scientific rigour and standard of proof in sudden cardiac death?. Leg Med (Tokyo). 2020 Apr 23;45:101712. doi:10.1016/j.legalmed.2020.101712
• Brion M, González-Juantey JR, Carracedo A. Polygenic risk score as a key factor in cardiovascular clinical prediction models. Rev Esp Cardiol (Engl Ed). 2020; pii: S1885-5857(20)30032-3. doi: 10.1016/j.rec.2020.01.003
• Santori M, Gil R, Blanco-Verea A, Riuró H, Díaz-Castro Ó, López-Abel B, Brugada R, Carracedo Á, Pérez GJ, Scornik FS, Brion M. Sudden infant death as the most severe phenotype caused by genetic modulation in a family with atrial fibrillation. Forensic Sci Int Genet. 2019; 43:102159. doi: 10.1016/j.fsigen.2019.102159
• Martinez-Matilla M, Blanco-Verea A, Santori M, Ansede-Bermejo J, Ramos-Luis E, Gil R, Bermejo AM, Lotufo-Neto F, Hirata MH, Brisighelli F, Paramo M, Carracedo A, Brion M. Genetic susceptibility in pharmacodynamic and pharmacokinetic pathways underlying drug-induced arrhythmia and sudden unexplained deaths. Forensic Sci Int Genet. 2019; 42:203-212. doi: 10.1016/j.fsigen.2019.07.010
• Blanco-Verea A, Ramos-Luis E, García-Seara J, Carracedo Á, González-Juanatey JR, Brion M. A Novel Calsequestrin 2 Deletion Causing Catecholaminergic Polymorphic Ventricular Tachycardia and Sudden Cardiac Death. Rev Esp Cardiol (Engl Ed). 2019;72(8):681-683. doi: 10.1016/j.rec.2018.07.005