User profiles for "author:Oscar Campuzano"

Oscar Campuzano

Universitat de Girona
Verified email at brugada.org
Cited by 5714

Present Status of Brugada Syndrome: JACC State-of-the-Art Review

J Brugada, O Campuzano, E Arbelo… - Journal of the American …, 2018 - jacc.org
The Brugada syndrome is an inherited disorder associated with risk of ventricular fibrillation
and sudden cardiac death in a structurally normal heart. Diagnosis is based on a …

[HTML][HTML] Brugada syndrome

R Brugada, O Campuzano… - Methodist DeBakey …, 2014 - ncbi.nlm.nih.gov
Brugada syndrome is a rare cardiac arrhythmia characterized by electrocardiographic right
bundle branch block and persistent ST-segment elevation in the right precordial leads. It is …

[HTML][HTML] Cardiac channelopathies and sudden death: recent clinical and genetic advances

A Fernández-Falgueras, G Sarquella-Brugada… - Biology, 2017 - mdpi.com
Sudden cardiac death poses a unique challenge to clinicians because it may be the only
symptom of an inherited heart condition. Indeed, inherited heart diseases can cause sudden …

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

J Barc, R Tadros, C Glinge, DY Chiang, M Jouni… - Nature …, 2022 - nature.com
Brugada syndrome (BrS) is a cardiac arrhythmia disorder associated with sudden death in
young adults. With the exception of SCN5A, encoding the cardiac sodium channel NaV1. 5 …

[HTML][HTML] Brugada syndrome: clinical and genetic findings

G Sarquella-Brugada, O Campuzano, E Arbelo… - Genetics in …, 2016 - nature.com
Brugada syndrome is a rare, inherited cardiac disease leading to ventricular fibrillation and
sudden cardiac death in structurally normal hearts. Clinical diagnosis requires a Brugada …

Transethnic genome-wide association study provides insights in the genetic architecture and heritability of long QT syndrome

N Lahrouchi, R Tadros, L Crotti, Y Mizusawa… - Circulation, 2020 - Am Heart Assoc
Background: Long QT syndrome (LQTS) is a rare genetic disorder and a major preventable
cause of sudden cardiac death in the young. A causal rare genetic variant with large effect …

A Missense Mutation in the Sodium Channel β2 Subunit Reveals SCN2B as a New Candidate Gene for Brugada Syndrome

H Riuró, P Beltran‐Alvarez, A Tarradas… - Human …, 2013 - Wiley Online Library
ABSTRACT B rugada S yndrome (B r S) is a familial disease associated with sudden cardiac
death. A 20%–25% of B r S patients carry genetic defects that cause loss‐of‐function of the …

Coexistence of epilepsy and Brugada syndrome in a family with SCN5A mutation

P Parisi, A Oliva, MC Vidal, S Partemi, O Campuzano… - Epilepsy research, 2013 - Elsevier
Cardiac arrhythmias are associated with abnormal channel function due to mutations in ion
channel genes. Epilepsy is a disorder of neuronal function also involving abnormal channel …

[HTML][HTML] Genetics and cardiac channelopathies

O Campuzano, P Beltrán-Álvarez, A Iglesias… - Genetics in …, 2010 - Elsevier
Sudden cardiac death is a major contributor to mortality in industrialized nations; in fact, it is
the cause of more deaths than acquired immune deficiency syndrome, lung and breast …

[HTML][HTML] Brugada syndrome

R Brugada, O Campuzano, G Sarquella-Brugada… - 2016 - europepmc.org
Brugada syndrome is characterized by cardiac conduction abnormalities (ST segment
abnormalities in leads V1-V3 on EKG and a high risk for ventricular arrhythmias) that can …