"Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders".

Background: Genetic diagnostics support the diagnosis of hereditary arrhythmogenic diseases, but variants of uncertain significance (VUS) complicate matters, emphasising the need for regular reassessment. Our study aims to reanalyse rare variants in different genes in order to decrease VUS diagnoses and thus improve risk stratification and personalized treatment for patients with arrhythmogenic disorders.

Methods: Genomic DNA was analysed using Sanger sequencing and next-generation sequencing (NGS).

From rare events to systematic data collection: the RESCUED registry for sudden cardiac death in the young in Germany.

Background: Approximately one-third of sudden cardiac deaths in the young (SCDY) occur due to a structural cardiac disease. Forty to fifty percent of SCDY cases remain unexplained after autopsy (including microscopic and forensic-toxicological analyses), suggesting arrhythmia syndromes as a possible cause of death. Due to the possible inheritability of these diseases, blood relatives of the deceased may equally be carriers of the causative genetic variations and therefore may have an increased cardiac risk profile.

Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome Variants.

The gene encodes the α-subunit of the cardiac voltage-gated potassium (Kv) channel KCNQ1, also denoted as Kv7.1 or KvLQT1. The channel assembles with the ß-subunit KCNE1, also known as minK, to generate the slowly activating cardiac delayed rectifier current , a key regulator of the heart rate dependent adaptation of the cardiac action potential duration (APD).

Telemedical monitoring in patients with inborn cardiac disease - experience of a tertiary care centre.

Background: The number of cardiologically relevant genetic findings will continue to increase. This is due to the use of high-throughput sequencing techniques and the critical role of incidental findings in cardiac disease genes. Telemedicine can be a useful diagnostic tool to monitor the heart rhythm of patients with inborn cardiac diseases.