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DOI 10.1177/2047487319854552

Медицинская библиотека · European journal of preventive cardiology · 2019

Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics.

De Backer Julie, Bondue Antoine, Budts Werner, Evangelista Arturo, Gallego Pastora, Jondeau Guillaume, Loeys Bart, Peña Maria L, Teixido-Tura Gisela, van de Laar Ingrid, Verstraeten Aline, Roos Hesselink Jolien

СтатьяПоддержка исследования: вне правительства СШАОбзорConsensus StatementПеревод в очереди

Аннотация

Thanks to a better knowledge of the genetic causes of many diseases and an improvement in genetic testing techniques, genetics has gained an important role in the multidisciplinary approach to diagnosis and management of congenital heart disease and aortic pathology. With the introduction of strategies for precision medicine, it is expected that this will only increase further in the future. Because basic knowledge of the indications, the opportunities as well as the limitations of genetic testing is essential for correct application in clinical practice, this consensus document aims to give guidance to care-providers involved in the follow-up of adults with congenital heart defects and/or with hereditary aortic disease. This paper is the result of a collaboration between the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics. Throughout the document, the importance of correct counseling in the process of genetic testing is emphasized, indications and timing for genetic studies are discussed as well as the technical modalities of genetic testing. Finally, the most important genetic diseases in adult congenital heart disease and aortic pathology are also discussed.

Для цитирования: De Backer Julie, Bondue Antoine, Budts Werner, Evangelista Arturo, Gallego Pastora, Jondeau Guillaume, Loeys Bart, Peña Maria L, Teixido-Tura Gisela, van de Laar Ingrid, Verstraeten Aline, Roos Hesselink Jolien. Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics.. European journal of preventive cardiology. 2019. DOI: 10.1177/2047487319854552.

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