Introducción a la genética y su utilidad en el diagnóstico de las enfermedades cardiovasculares: conceptos básicos y el ejemplo de la hipercolesterolemia familiar

The main aim of this article is to provide clinicians with the basic knowledge needed to interpret data on genetic disorders that may be relevant to clinical decision-making. The human genome is likened to an encyclopedia, “The encyclopedia of life”, which is used to explain how genetic information is transmitted and to describe the causes and consequences of mutations, along with the main rules used for naming them. There follows a discussion of which mutations can contribute to the development of cardiovascular disease and how they do so. Finally, there is a description of how genetics has contributed to improvements in the diagnosis and treatment of familial hypercholesterolemia, one of the conditions in which lipid-lowering therapy is efficacious and cost-effective. In addition, there is an explanation of how large-scale genetic assays, such as biochips, are used for detecting the principle mutations found in the genes responsible for familial hypercholesterolemia.