Approach to genetics and cardiology

Abstract

During recent years, great advances have been made in the field of genetics that has supposed new perspectives in the approach to cardiovascular diseases. The pedestrian should be familiarized with them and correctly rationalize the diagnostic resources from the genetic point of view. This article aims to provide a global view of the contribution of genetics in pediatric cardiology. Genetic counseling is a fundamental part of the medical process with diagnostic, therapeutic, prognostic and reproductive implications that should not be overlooked during the professional activity. Basic genetic concepts and their application to the most frequent clinical entities that are benefited from this type of studies are reviewed. Both the so-called familial heart diseases due to their hereditary basis (cardiomyopathies and channel diseases) and the congenital heart diseases given their frequency in the population are included. The indications of genetic study and the most relevant genes associated to each disease are briefly presented.