Challenges of genetic testing in adolescents with cardiac arrhythmia syndromes

Inherited Cardiac Arrhythmia Syndromes

Lethal cardiac arrhythmias in individuals with structurally normal heart are often caused by variants in genes that encode cardiac ion channel and -subunits (102). Common inherited arrhythmia syndromes include the congenital long QT syndrome (LQTS), Brugada syndrome (BrS), short QT syndrome (SQT), and catecholaminergic polymorphic ventricular tachycardia (CPVT) (76). Moreover, inherited mutatio...

Cardiac sodium channel and inherited arrhythmia syndromes.

Memory Deficits among Children and Adolescents with Paroxysmal Cardiac Arrhythmia

The aim of this study was to assess memory functioning among children and adolescents with atrial-ventricular nodal re-entry tachycardia (AVNRT) and atrial-ventricular re-entry tachycardia (AVRT). A total of 113 pediatric cardiology clinic patients (62 F, 51 M), aged 9–18 years, who were scheduled for radiofrequency ablation due to AVRT or AVNRT underwent neuropsychological examination. Patient...

Genetic Insurance Discrimination in Sudden Arrhythmia Death Syndromes

Sudden unexpected death is defined as a natural unexpected fatal event that occurs within 1 hour of the onset of symptoms in an apparently healthy subject or in one whose disease was not so severe as to predict such an abrupt outcome. Approximately 294 851 adults and 2000 children die of sudden unexpected death in the United States each year. Evidence from a Danish population suggests an incide...

Diabetes mellitus in children and adolescents with genetic syndromes.

BACKGROUND Several genetic syndromes are associated with diabetes mellitus (DM). This study aimed to analyse data from the DPV database with regard to frequency, treatment strategies and long-term complications in paediatric DM patients with genetic syndromes, including Turner syndrome (TS), Prader-Willi syndrome (PWS), Friedreich ataxia (FA), Alström syndrome (AS), Klinefelter syndrome (KS), B...