Edge of the world: practical considerations and a clinical perspective of next-generation sequencing for hereditary cardiac disease

Abstract

In the article by Jongbloed et al. in the current issue of Expert Opinion on Medical Diagnostics entitled ‘New clinical molecular diagnostic methods for congenital and inherited heart disease’, the authors introduce the application of next-generation sequencing technologies to a wide range of genetically based cardiac diseases. Although these technologies certainly are exciting and hold great diagnostic promise, their impact is limited at present by insufficient correlation between genotype and phenotype in cardiac disease. In the following discussion, the application of genetic testing in the evaluation of two important familial cardiac diseases, familial cardiomyopathy and long QT syndrome, is considered.

Keywords::

• arrhythmogenic right ventricular cardiomyopathy
• dilated cardiomyopathy
• familial cardiomyopathy
• genetic testing
• hypertrophic cardiomyopathy
• long QT syndrome
• review
• therapy