Genetic variants in Colombian patients with inherited cardiac conditions

Abstract

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% and 20% in young adults and patients over 40 years, respectively. All subjects affected with long QT syndrome with a severe event while exercising had a positive genetic test. They also had four times more loss of consciousness events and, resuscitated sudden cardiac arrest was more representative. Conclusion This study is the first one undertaken in Colombia to evaluate inherited cardiac conditions. It highlights the need to perform mutational analysis to provide adequate genetic counseling and to be able to identify patients at risk of severe events.

Keywords

• arrhythmogenic cardiomyopathy
• Brugada syndrome
• Colombia
• hypertrophic cardiomyopathy
• long QT syndrome