title: Cardiac channelopathies in pediatric patients - 7-years single center experience.
abstract: BACKGROUND
  Channelopathies are associated with mutations of genes encoding proteins creating or interacting with the specialized ion channels in myocardial cell membranes, thus forming arrhythmogenic substrate predisposing the patient to sudden cardiac death. The study focuses the clinical and ECG presentation and management of children with channelopathies in Slovakia.
  
  
  METHODS
  Twenty-two children with suspected channelopathy were admitted to Children's Cardiac Center Bratislava in the years 2007-2014. Genetic testing was made in 19 patients.
  
  
  RESULTS
  Fourteen patients were symptomatic. Long QT syndrome was genetically proven in eight and catecholaminergic polymorphic ventricular tachycardia in five patients. Twenty children are treated with beta-blockers, five in combination with mexiletine or flecainide. Nine patients received implantable cardiac defibrillator and one underwent left cardiac sympathetic denervation.
  
  
  CONCLUSIONS
  Both clinical presentation and genetic testing must be considered in the diagnostic and therapeutic process of channelopathies. Early diagnosis allows for adequate treatment and lifestyle modification.
authors.affiliation: Departments of Arrhythmias and Pacing and ICU, Children's Cardiac Center, Comenius University School of Medicine and National Cardiovascular Institute, Slovak Medical University School of Medicine, Bratislava, Slovakia. Electronic address: illikvie@gmail.com.
authors.forename: V
authors.initials: V
authors.lastname: Illikova
authors.affiliation: Departments of Arrhythmias and Pacing and ICU, Children's Cardiac Center, Comenius University School of Medicine and National Cardiovascular Institute, Slovak Medical University School of Medicine, Bratislava, Slovakia.
authors.forename: P
authors.initials: P
authors.lastname: Hlivak
authors.affiliation: Departments of Arrhythmias and Pacing and ICU, Children's Cardiac Center, Comenius University School of Medicine and National Cardiovascular Institute, Slovak Medical University School of Medicine, Bratislava, Slovakia.
authors.forename: R
authors.initials: R
authors.lastname: Hatala
mesh_terms: D000293:Adolescent; D000319:Adrenergic beta-Antagonists / Q000627:therapeutic use; D000889:Anti-Arrhythmia Agents / Q000627:therapeutic use; D006348:Cardiac Surgical Procedures; D053447:Channelopathies / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D002648:Child; D002675:Child, Preschool; D016757:Death, Sudden, Cardiac; D017147:Defibrillators, Implantable; D004359:Drug Therapy, Combination; D004562:Electrocardiography; D015716:Electrocardiography, Ambulatory; D005260:Female; D005424:Flecainide / Q000627:therapeutic use; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008801:Mexiletine / Q000627:therapeutic use; D010641:Phenotype; D012307:Risk Factors
chemical_list: D000319:Adrenergic beta-Antagonists; D000889:Anti-Arrhythmia Agents; D008801:Mexiletine; D005424:Flecainide
keywords: Channelopathy; Children; Genetic testing