Format

Send to

Choose Destination
Eur J Prev Cardiol. 2019 Jun 11:2047487319854552. doi: 10.1177/2047487319854552. [Epub ahead of print]

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.

Author information

1
1 Department of Cardiology and Center for Medical Genetics, Ghent University Hospital, Belgium.
2
2 European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), HTAD Rare Disease Working Group.
3
3 Department of Cardiology, Université Libre de Bruxelles, Belgium.
4
4 Congenital and Structural Cardiology, University Hospitals Leuven, Belgium.
5
5 Department of Cardiovascular Sciences, KU Leuven, Belgium.
6
6 Servei de Cardiologia, Hospital Universitari Vall d'Hebron, VHIR. CIBER-CV, Barcelona, Spain.
7
7 Department of Cardiology, Hospital Universitario Virgen del Rocio, Spain.
8
8 Centre National Maladie Rare pour le Syndrome de Marfan et Apparentés, Hôpital Bichat, France.
9
9 Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Belgium.
10
10 Department of Human Genetics, Radboud University Medical Center, the Netherlands.
11
11 Department of Clinical Genetics, Erasmus MC, the Netherlands.
12
12 Department of Cardiology, Erasmus MC, the Netherlands.

Abstract

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.

KEYWORDS:

Genetic testing; adult congenital heart disease; genetic counseling; heritable thoracic aortic disease

PMID:
31184212
DOI:
10.1177/2047487319854552

Supplemental Content

Full text links

Icon for Atypon
Loading ...
Support Center