Targeted next generation sequencing in a young population with suspected inherited malignant cardiac arrhythmias.

ABSTRACT: Aborted sudden cardiac death in the young often is due to inherited heart disease. However, the clinical phenotype in these patients is not always evident. The aim of this study was to identify pathogenic molecular genetic variants in a population with suspected inherited cardiac arrhythmias. Eligible patients were admitted to Aarhus University Hospital, Denmark during the period 1999-2013 with arrhythmias assumed caused by a hereditary heart disease, and in whom no genotype had been established. We used the Danish national pacemaker and ICD registry to identify this cohort. One third (24/80) of the study population had first-line genetic testing with a targeted next-generation sequencing (NGS) panel, and two-third (56/80) of the study population had second-line genetic testing with NGS wh

SUBMITTER: Broendberg AK 

PROVIDER: S-EPMC5838968 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature