Application of NGS in the Diagnosis of Cardiovascular Genetic Diseases

Cardiovascular diseases (CVDs) are the leading global cause of death and encompass a broad range of disorders, including diseases of the vasculature, the myocardium, and the heart’s electrical circuit, and congenital heart disease (CHD). In the etiology of most CVDs, a clear hereditary component has been demonstrated. CVDs can be divided in two major categories: the monogenic and the polygenic/multifactorial forms and have long been at the forefront of gene testing in the clinic. The advent of next-generation sequencing (NGS) technologies has led to increasingly comprehensive testing for CVDs in both the monogenic and the polygenic/multifactorial forms, although the interpretation of the NGS data is still a challenge at this time. This chapter describes the genetic background of CVDs including inherited cardiomyopathy, inherited primary arrhythmia syndromes, CHD and inherited aortopathy, as well as the utility of NGS in the detection of CVDs-related genetic alterations.