title: Short QT syndrome in pediatrics.
abstract: Short QT syndrome is a malignant cardiac disease characterized by the presence of ventricular tachyarrhythmias leading to syncope and sudden cardiac death. Currently, international guidelines establish diagnostic criteria when QTc is below 340 ms. This entity is one of the main diseases responsible for sudden cardiac death in the pediatric population. In recent years, clinical, genetic and molecular advances in pathophysiological mechanisms related to short QT syndrome have improved diagnosis, risk stratification, and preventive measures. Despite these advances, automatic implantable cardiac defibrillator remains the most effective measure. Currently, six genes have been associated with short QT syndrome, which account for nearly 60% of clinically diagnosed families. Here, we review the main clinical hallmarks of the disease, focusing on the pediatric population.
authors.affiliation: Cardiovascular Genetics Center, Gencardio, Institut Investigació Biomèdica de Girona (IDIBGI), C/ Dr Castany s/n, Parc Hospitalari Martí i Julià (M-2), 17290, Salt, Girona, Spain.|Arrhythmia Service, Instituto Nacional de Cardiologia, Rio de Janeiro, Brazil.
authors.forename: Roberta
authors.initials: R
authors.lastname: Pereira
authors.affiliation: Cardiovascular Genetics Center, Gencardio, Institut Investigació Biomèdica de Girona (IDIBGI), C/ Dr Castany s/n, Parc Hospitalari Martí i Julià (M-2), 17290, Salt, Girona, Spain.|Medical Science Department, School of Medicine, Girona, Spain.
authors.forename: Oscar
authors.initials: O
authors.lastname: Campuzano
authors.affiliation: Unit of Arrhythmias, Hospital Sant Joan de Deu, University of Barcelona, Barcelona, Spain.
authors.forename: Georgia
authors.initials: G
authors.lastname: Sarquella-Brugada
authors.affiliation: Unit of Arrhythmias, Hospital Sant Joan de Deu, University of Barcelona, Barcelona, Spain.
authors.forename: Sergi
authors.initials: S
authors.lastname: Cesar
authors.affiliation: Cardiovascular Genetics Center, Gencardio, Institut Investigació Biomèdica de Girona (IDIBGI), C/ Dr Castany s/n, Parc Hospitalari Martí i Julià (M-2), 17290, Salt, Girona, Spain.
authors.forename: Anna
authors.initials: A
authors.lastname: Iglesias
authors.affiliation: Unit of Arrhythmias, Hospital Sant Joan de Deu, University of Barcelona, Barcelona, Spain.
authors.forename: Josep
authors.initials: J
authors.lastname: Brugada
authors.affiliation: Arrhythmia Service, Instituto Nacional de Cardiologia, Rio de Janeiro, Brazil.
authors.forename: Fernando E S
authors.initials: FES
authors.lastname: Cruz Filho
authors.affiliation: Cardiovascular Genetics Center, Gencardio, Institut Investigació Biomèdica de Girona (IDIBGI), C/ Dr Castany s/n, Parc Hospitalari Martí i Julià (M-2), 17290, Salt, Girona, Spain. ramon@brugada.org.|Medical Science Department, School of Medicine, Girona, Spain. ramon@brugada.org.|Cardiomyopathies Unit, Hospital Josep Trueta, Girona, Spain. ramon@brugada.org.
authors.forename: Ramon
authors.initials: R
authors.lastname: Brugada
mesh_terms: D001145:Arrhythmias, Cardiac / Q000150:complications / Q000503:physiopathology / Q000628:therapy*; D002648:Child; D016757:Death, Sudden, Cardiac / Q000209:etiology*; D017147:Defibrillators, Implantable; D004562:Electrocardiography; D006801:Humans; D017410:Practice Guidelines as Topic; D013575:Syncope / Q000209:etiology*
keywords: Genetics; Pediatrics; Short QT syndrome; Sudden cardiac death