Genetic variants in Colombian patients with inherited cardiac conditions.

Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

Original Publication: [Hoboken, NJ] : John Wiley & Sons, [2013]-

Death, Sudden, Cardiac* ; Long QT Syndrome*/genetics ; Long QT Syndrome*/diagnosis; Young Adult ; Humans ; Child ; Adolescent ; Adult ; Middle Aged ; Colombia ; Genetic Testing ; Genetic Counseling

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.
(© 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)

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Keywords: Brugada syndrome; Colombia; arrhythmogenic cardiomyopathy; hypertrophic cardiomyopathy; long QT syndrome

Date Created: 20221007 Date Completed: 20221115 Latest Revision: 20221213

20240105

PMC9651603

10.1002/mgg3.2046

36204818