ABC Heart Fail Cardiomyop 2023; 3(1): e20230023
Genetic Counseling and Pedigree in Cardiomyopathies – the Role of the Clinical Geneticist
Diane Xavier de Ávila
, Frank Nunes, Raquel Germer, Ana Flávia Malheiros Torbey
Introduction
Twenty years ago, the Human Genome Project made history by announcing the sequencing of 92% of the human genome through the development of modern genetic sequencing techniques. In 2022, the complete sequencing of human DNA was announced. This knowledge made it possible to better understand how genetics influences the functioning of the human body and, at the same time, facilitated the identification of genetic variants that can cause diseases.
In the field of cardiology, genetic study assists the assessment of aortopathy, familial hypercholesterolemia, channelopathies, and especially cardiomyopathies.
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Keywords: Cardiomyopathies; Genetic Counseling; Genetic Testing; Genetics
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