Key result
Genetic counseling and pedigree construction are essential to manage genetic cardiomyopathies and guide family screening.
This paper discusses the role of clinical geneticists and genetic counseling in the management of cardiomyopathies.
Genetic advances may identify cardiomyopathy variants; leaves open routine clinical integration in HF.
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 [...]
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Ávila et al. (2023) conducted a review in Genetic cardiomyopathies. Genetic counseling and pedigree construction was evaluated. Genetic counseling and detailed pedigree construction are essential in managing genetic cardiomyopathies to identify inheritance patterns, guide testing, and facilitate family screening.
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