title: Genetics of inherited arrhythmias in pediatrics.
abstract: OBJECTIVE
  Recent international expert consensus statements have updated the clinical and genetic diagnoses of patients suffering from arrhythmogenic diseases. However, a lack of genotype-phenotype correlations has hampered the development of a risk stratification scale for sudden cardiac death.
  
  
  RESULTS
  The improvement in the field of genetics has prompted the discovery of new genes associated with sudden cardiac death. Sudden cardiac death is a socially devastating event, especially when it occurs in the pediatric population. Physical activity can often trigger the arrhythmia and sudden death may be the first symptom. These inherited cardiac diseases may be difficult to diagnose, leaving family members also at risk. Thanks to the development of new high-throughput technologies, genetics may be used in the diagnosis of these diseases and even cases that remain unexplained after a comprehensive autopsy. Genetic testing cannot only identify the causative genetic variant in the index case, but it enables the detection of relatives at risk of sudden death, despite remaining clinically asymptomatic.
  
  
  CONCLUSIONS
  We review the recent advances in the genetics of inherited arrhythmias associated with sudden cardiac death. We focus on the pediatric population, the main group of people suffering from lethal inherited arrhythmias.
authors.affiliation: aCardiovascular Genetics Centre, University of Girona-IDIBGI, Spain bDepartment of Medical Science, School of Medicine, University of Girona, Spain cArrhythmia Unit, Hospital Sant Joan de Déu, University of Barcelona, Spain dArrhythmia Unit, Hospital Clinic de Barcelona, University of Barcelona, Spain eCardiomyopathies Unit, Hospital Josep Trueta, Girona, Spain.
authors.forename: Oscar
authors.initials: O
authors.lastname: Campuzano
authors.forename: Georgia
authors.initials: G
authors.lastname: Sarquella-Brugada
authors.forename: Sergi
authors.initials: S
authors.lastname: Cesar
authors.forename: Anna
authors.initials: A
authors.lastname: Iglesias
authors.forename: Elena
authors.initials: E
authors.lastname: Arbelo
authors.forename: Josep
authors.initials: J
authors.lastname: Brugada
authors.forename: Ramon
authors.initials: R
authors.lastname: Brugada
mesh_terms: D000293:Adolescent; D053840:Brugada Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D016757:Death, Sudden, Cardiac / Q000209:etiology* / Q000517:prevention & control; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008133:Long QT Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D009043:Motor Activity; D017180:Tachycardia, Ventricular / Q000150:complications / Q000175:diagnosis / Q000235:genetics*