Genetic Counseling – ABC CARDIOL

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Genetic Counseling and Pedigree in Cardiomyopathies – the Role of the Clinical Geneticist

Diane Xavier de Ávila et al. 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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Cardiomyopathies
Genetic Counseling
Genetic Testing
Genetics

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Genetic Counseling and Pedigree in Cardiomyopathies – the Role of the Clinical Geneticist

Introduction

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