C048 – Xenética Cardiovascular

Obxectivos

O obxectivo principal é o coñecemento das bases xenéticas da enfermidade cardiovascular en xeral, centrándonos principalmente en:
– Xenética das cardiopatías familiares
– Xenética de la cardiotoxicidade inducida por quimioterapia
– Xenética da enfermidade cardiovascular común
– Farmacoxenética da flecainida na fibrilación auricular

Liñas de investigación

• Xenética das cardiopatías familiares: mellora do diagnóstico xenético
• Avaliación xenética da cardiotoxicidade inducida por quimioterapia
• Farmacoxenética da flecainida en pacientes con fibrilación auricular
• Busca de variación xenética de risco en enfermidade cardiovascular común

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• 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