Genetic variants in Colombian patients with inherited cardiac conditions.

ABSTRACT:

Background

Clinical and molecular diagnosis of inherited cardiac conditions is key to find at-risk subjects and avoid preventable deaths. This study aimed to identify genetic variants in a sample of Colombian patients diagnosed with inherited cardiac conditions.

Methods

Next-generation sequencing (Illumina platform) using a 231 gene panel was performed in blood samples of 25 unrelated patients with age disease onset between 9 and 55 years.

Results

Genetic testing yield was 52%. Two novel likely pathogenic/ pathogenic variants were found: a DSP nonsense variant in a patient with arrhythmogenic cardiomyopathy and a KCNE1 frameshift variant in two patients with long QT syndrome. Younger individuals (<18 years) had the highest genetic testing yield (66.6%) compared to 50%

SUBMITTER: Rucinski C 

PROVIDER: S-EPMC9651603 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature