Valvulopathies and Genetics: Where are We?

Autor: Mònica Coll, Anna Fernández-Falgueras, Anna Iglesias, Ramon Brugada

Publikováno v: Reviews in Cardiovascular Medicine, Vol 25, Iss 2, p 40 (2024)

Valvulopathies are among the most common cardiovascular diseases, significantly increasing morbidity and mortality. While many valvular heart diseases are acquired later in life, an important genetic component has been described, particularly in mitr

Externí odkaz: https://doaj.org/article/90ff7725638d4235bc2c09af0f6890ca

Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

Autor: Olallo Sanchez, Oscar Campuzano, Anna Fernández-Falgueras, Georgia Sarquella-Brugada, Sergi Cesar, Irene Mademont, Jesus Mates, Alexandra Pérez-Serra, Monica Coll, Ferran Pico, Anna Iglesias, Coloma Tirón, Catarina Allegue, Esther Carro, María Ángeles Gallego, Carles Ferrer-Costa, Anna Hospital, Narcís Bardalet, Juan Carlos Borondo, Albert Vingut, Elena Arbelo, Josep Brugada, Josep Castellà, Jordi Medallo, Ramon Brugada

Publikováno v: PLoS ONE, Vol 11, Iss 12, p e0167358 (2016)

Sudden unexplained death may be the first manifestation of an unknown inherited cardiac disease. Current genetic technologies may enable the unraveling of an etiology and the identification of relatives at risk. The aim of our study was to define the

Externí odkaz: https://doaj.org/article/bb5dad0a0afa4dc7a78990c00741d26c

Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes

Autor: Estefanía Martínez-Barrios, Georgia Sarquella-Brugada, Alexandra Pérez-Serra, Anna Fernández-Falgueras, Sergi Cesar, Mónica Coll, Marta Puigmulé, Anna Iglesias, Mireia Alcalde, Marta Vallverdú-Prats, Carles Ferrer-Costa, Bernat del Olmo, Ferran Picó, Laura López, Victoria Fiol, José Cruzalegui, Clara Hernández, Elena Arbelo, Simone Grassi, Antonio Oliva, Rocío Toro, Josep Brugada, Ramon Brugada, Oscar Campuzano

Publikováno v: Journal of Personalized Medicine; Volume 12; Issue 2; Pages: 241
Journal of Personalized Medicine, 2022, vol. 12, núm. 2, p. 241
Articles publicats (D-CM)
DUGiDocs – Universitat de Girona
instname

The titin gene (TTN) is associated with several diseases, including inherited arrhythmias. Most of these diagnoses are attributed to rare TTN variants encoding truncated forms, but missense variants represent a diagnostic challenge for clinical genet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87bae75c8344bcbea50b342de0700f59
http://hdl.handle.net/10807/200899

Implementing a New Algorithm for Reinterpretation of Ambiguous Variants in Genetic Dilated Cardiomyopathy

Autor: Alexandra Pérez-Serra, Rocío Toro, Estefanía Martinez-Barrios, Anna Iglesias, Anna Fernandez-Falgueras, Mireia Alcalde, Mónica Coll, Marta Puigmulé, Bernat del Olmo, Ferran Picó, Laura Lopez, Elena Arbelo, Sergi Cesar, Coloma Tiron de Llano, Alipio Mangas, Josep Brugada, Georgia Sarquella-Brugada, Ramon Brugada, Oscar Campuzano

Publikováno v: International Journal of Molecular Sciences, Vol 25, Iss 7, p 3807 (2024)

Dilated cardiomyopathy is a heterogeneous entity that leads to heart failure and malignant arrhythmias. Nearly 50% of cases are inherited; therefore, genetic analysis is crucial to unravel the cause and for the early identification of carriers at ris

Externí odkaz: https://doaj.org/article/6b47b07d738b4660af7c8147b2ee20e1

A Genetically Vulnerable Myocardium May Predispose to Myocarditis

Autor: Oscar Campuzano, Anna Fernández-Falgueras, Georgia Sarquella-Brugada, Olallo Sanchez, Sergi Cesar, Irene Mademont, Catarina Allegue, Jesus Mates, Alexandra Pérez-Serra, Monica Coll, Mireia Alcalde, Anna Iglesias, Coloma Tiron, María Ángeles Gallego, Carles Ferrer-Costa, Anna Hospital, Carme Escribano, Concha Dasí, Juan Carlos Borondo, Josep Castellà, Elena Arbelo, Jordi Medallo, Josep Brugada, Ramon Brugada

Publikováno v: JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu

Death from myocarditis requires the presence of myocardial inflammation, without any other structural heart disease, and is frequently associated with a viral infection [(1)][1]. We postulate that genetic defects in structural proteins cause the myoc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ab6cd24a0a5d6348d19cbc6a1e69266
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=10429