Title:Genetics of Cardiomyopathies: Novel Perspectives with Next Generation Sequencing
VOLUME: 21 ISSUE: 4
Author(s):Lorenzo Monserrat, Martin Ortiz-Genga, Ivan Lesende, Diego Garcia-Giustiniani, Roberto Barriales-Villa, David de Una-Iglesias, Petros Syrris and Alfonso Castro-Beiras
Affiliation:Edificio Fortin, Hospital Maritimo de Oza. As Xubias SN. A Coruna 15006, Spain.
Keywords:Cardiomyopathies, genetics, next generation sequencing.
Abstract:Cardiomyopathies are a heterogeneous group of primary diseases of the myocardium usually of genetic origin and with familial
presentation. The identification of multiple genetic causes for these diseases has opened a new window for early diagnosis, understanding
of their natural history and improvement in risk stratification and management. However, in the past years, the clinical application
of genetics has been limited by the prohibiting cost and restricted yield of the available genotyping technologies. The emergence of
Next Generation Sequencing (NGS) has completely changed this scenario. This group of sequencing technologies allow the evaluation of
hundreds or even thousands of genes in parallel at an affordable cost. Now the challenge is not genotyping per se but the interpretation of
the complex results that NGS generates. In this paper we review the main aspects related to the application and impact of Next Generation
Sequencing in the study of cardiomyopathies: technology, analysis procedures, bioinformatics, clinical validation and interpretation
of results.
