Next Generation Sequencing in Inherited Cardiovascular Diseases
1Health in Code, A Coruña, Spain
The inherited cardiovascular diseases (cardiomyopathies, channelopathies and inherited vascular diseases) are a heterogeneous conjunct of primary diseases usually of genetic origin and familial presentation, which are associated with sudden death risk . The identification of multiple genetic causes for these diseases has opened a new window for their early diagnosis, the understanding of their natural history, and for the improvement in their risk stratification and management. However, in the last years, the clinical application of genetics has been limited by the cost and low yield of the available genotyping technologies. The irruption of Next Generation Sequencing, has completely changed this scenario. This group of disruptive technologies allow the evaluation in parallel of hundreds or even thousands of genes at an affordable cost. Now the challenge is not the genotyping, but the interpretation of the complex results. In this presentation we review the main aspects related to the application and impact of Next Generation Sequencing in the study of the inherited cardiovascular diseases, with a special focus in the clinical validation and the interpretation of the results.
Keywords: Cardiovascular, Genomics, Heart