Resumen

TRUJILLO-QUINTERO, Juan Pablo et al. Approach to familial heart diseases from Genomic Medicine. Rev. Colomb. Cardiol. [online]. 2018, vol.25, n.4, pp.264-276. ISSN 0120-5633.  https://doi.org/10.1016/j.rccar.2018.01.004.

The familial heart diseases are a group of diseases with high clinical and genomic heterogeneity. As they can be inherited and are associated with sudden death, it is recommended to perform a clinical and genetic study of the individual affected, as well as the family, in a specialised unit. The implementation of massive sequencing has meant that access to genetic studies is available in the most routine clinical practice. However, due to the large amount of information obtained, the results have to analysed and interpreted to ensure a correct diagnosis. This new medicine model widens the understanding of these diseases, as due to the diagnosis being optimised, it provides a more accurate prognosis for the patients, and identifies asymptomatic individuals at risk. A review is presented on the genetic architecture of heritable heart disease and provides a practical approach on the usefulness of Genomic Medicine in the diagnosis, risk stratification, and the familial study in patients with these types of heart diseases.

Palabras clave : Cardiomyopathies; Sudden cardiac death; Genotype-phenotype association; Massive sequencing.

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