Výsledky vyhledávání - "Victoria Fiol"

Akademický článek

Autor: Nuria Díez-Escuté, Elena Arbelo, Estefanía Martínez-Barrios, Patricia Cerralbo, Sergi Cesar, José Cruzalegui, Freddy Chipa, Victoria Fiol, Irene Zschaeck, Clara Hernández, Oscar Campuzano, Georgia Sarquella-Brugada

Publikováno v: Frontiers in Cardiovascular Medicine, Vol 10 (2023)

Long QT Syndrome (LQTS) is a rare, inherited channelopathy characterized by cardiac repolarization dysfunction, leading to a prolonged rate-corrected QT interval in patients who are at risk for malignant ventricular tachyarrhythmias, syncope, and eve

Externí odkaz: https://doaj.org/article/7524962dc80d40fa8800fb7b09ba1199

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Akademický článek

Publikováno v: Frontiers in Genetics, Vol 14 (2023)

Background: Laminopathies are caused by rare alterations in LMNA, leading to a wide clinical spectrum. Though muscular dystrophy begins at early ages, disease progression is different in each patient. We investigated variability in laminopathy phenot

Externí odkaz: https://doaj.org/article/2e963c1eaf3740048e1406c93f7e7001

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Akademický článek

Brugada Syndrome in Women: What Do We Know After 30 Years?

Autor: Estefanía Martínez-Barrios, Elena Arbelo, Sergi Cesar, José Cruzalegui, Victoria Fiol, Nuria Díez-Escuté, Clara Hernández, Ramon Brugada, Josep Brugada, Oscar Campuzano, Georgia Sarquella-Brugada

Publikováno v: Frontiers in Cardiovascular Medicine, Vol 9 (2022)

Brugada syndrome (BrS) was initially described in 1992 by Josep and Pedro Brugada as an arrhythmogenic disease characterized by ST segment elevation in the right precordial leads and increased risk of sudden cardiac death (SCD). Alterations in the SC

Externí odkaz: https://doaj.org/article/3bbe5daf189d4844a571c2a41cced83d

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Akademický článek

Early Identification of Prolonged QT Interval for Prevention of Sudden Infant Death

Publikováno v: Frontiers in Pediatrics, Vol 9 (2021)

Introduction: Long QT syndrome is the main arrhythmogenic disease responsible for sudden death in infants, especially in the first days of life. Performing an electrocardiogram in newborns could enable early diagnosis and adoption of therapeutic meas

Externí odkaz: https://doaj.org/article/63da0e5c5568477e94cc67f8aa6d8707

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Akademický článek

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

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Akademický článek

Pediatric Left Posteroseptal Accessory Pathway Ablation from Giant Coronary Sinus with Persistent Left Superior Cava

Autor: José Cruzalegui, Sergi Cesar, Oscar Campuzano, Victoria Fiol, Josep Brugada, Georgia Sarquella-Brugada

Publikováno v: Journal of Cardiovascular Development and Disease, Vol 9, Iss 4, p 109 (2022)

We report a pediatric patient with persistent left superior vena cava and a D-transposition of great arteries, which is an uncommon relation. It is crucial to know the anatomy of the persistent left superior vena cava and the dilated coronary sinus t

Externí odkaz: https://doaj.org/article/50888a2be5234f1193f949e859389401

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Akademický článek

Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population

Autor: Estefanía Martínez-Barrios, Sergi Cesar, José Cruzalegui, Clara Hernandez, Elena Arbelo, Victoria Fiol, Josep Brugada, Ramon Brugada, Oscar Campuzano, Georgia Sarquella-Brugada

Publikováno v: Biomedicines, Vol 10, Iss 1, p 106 (2022)

Sudden death is a rare event in the pediatric population but with a social shock due to its presentation as the first symptom in previously healthy children. Comprehensive autopsy in pediatric cases identify an inconclusive cause in 40–50% of cases

Externí odkaz: https://doaj.org/article/b8ac06423f394c39887e4909be9485ce

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