Revista de enfermedades coronarias

Genetic Basis for Congenital Heart Disease

Abstract

Amy Roberts

This article presents a current overview of our understanding of genetic contributions to the development of congenital cardiac disease. Since the year 2007 the publication of a paper on the genetic basis of congenital heart disease, new genomic tools have been widely available, drastically altering our understanding of the aetiology of congenital heart disease. New molecular testing techniques are discussed, as well as their use to congenital cardiac disease, both alone and in combination with other congenital defects or syndromes. The latest research on copy number variations, syndromes, RASopathies, and heterotaxy/ciliopathies is presented. New research findings using congenital heart disease models. This review is expected to provide timely information on the genetic aspects of congenital heart disease to a wide range of health-care professionals, including paediatric cardiologists, paediatricians, adult cardiologists, thoracic surgeons, obstetricians, geneticists, genetic counsellors, and other related clinicians.