RT Journal Article
T1 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.
A1 De Backer, Julie
A1 Bondue, Antoine
A1 Budts, Werner
A1 Evangelista, Arturo
A1 Gallego, Pastora
A1 Jondeau, Guillaume
A1 Loeys, Bart
A1 Peña, Maria L
A1 Teixido-Tura, Gisela
A1 van de Laar, Ingrid
A1 Verstraeten, Aline
A1 Roos Hesselink, Jolien
K1 Genetic testing
K1 adult congenital heart disease
K1 genetic counseling
K1 heritable thoracic aortic disease
AB 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.
YR 2019
FD 2019-06-11
LK https://hdl.handle.net/10668/27318
UL https://hdl.handle.net/10668/27318
LA en
DS RISalud
RD Apr 6, 2025