Literature DB >> 31184212

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.

Julie De Backer1,2, Antoine Bondue3, Werner Budts4,5, Arturo Evangelista2,6, Pastora Gallego7, Guillaume Jondeau2,8, Bart Loeys2,9,10, Maria L Peña7, Gisela Teixido-Tura2,6, Ingrid van de Laar2,11, Aline Verstraeten9,10, Jolien Roos Hesselink2,12.   

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.

Entities:  

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

Year:  2019        PMID: 31184212     DOI: 10.1177/2047487319854552

Source DB:  PubMed          Journal:  Eur J Prev Cardiol        ISSN: 2047-4873            Impact factor:   7.804


  7 in total

1.  WDR62 variants contribute to congenital heart disease by inhibiting cardiomyocyte proliferation.

Authors:  Lili Hao; Jing Ma; Feizhen Wu; Xiaojing Ma; Maoxiang Qian; Wei Sheng; Tizhen Yan; Ning Tang; Xin Jiang; Bowen Zhang; Deyong Xiao; Yanyan Qian; Jin Zhang; Nan Jiang; Wenhao Zhou; Weicheng Chen; Duan Ma; Guoying Huang
Journal:  Clin Transl Med       Date:  2022-07

Review 2.  Thoracic Aortic Dilation: Implications for Physical Activity and Sport Participation.

Authors:  Emanuele Monda; Federica Verrillo; Marta Rubino; Giuseppe Palmiero; Adelaide Fusco; Annapaola Cirillo; Martina Caiazza; Natale Guarnaccia; Alfredo Mauriello; Michele Lioncino; Alessia Perna; Gaetano Diana; Antonello D'Andrea; Eduardo Bossone; Paolo Calabrò; Giuseppe Limongelli
Journal:  Diagnostics (Basel)       Date:  2022-06-04

Review 3.  Pregnancy in congenital heart disease: risk prediction and counselling.

Authors:  Iris M van Hagen; Jolien W Roos-Hesselink
Journal:  Heart       Date:  2020-07-01       Impact factor: 5.994

4.  The Implementation Science for Genomic Health Translation (INSIGHT) Study in Epilepsy: Protocol for a Learning Health Care System.

Authors:  Elena Valeryevna Feofanova; Guo-Qiang Zhang; Samden Lhatoo; Ginger A Metcalf; Eric Boerwinkle; Eric Venner
Journal:  JMIR Res Protoc       Date:  2021-03-26

Review 5.  Current state and future directions of genomic medicine in aortic dissection: A path to prevention and personalized care.

Authors:  Alana C Cecchi; Madeline Drake; Chrisanne Campos; Jake Howitt; Jonathan Medina; Scott M Damrauer; Sherene Shalhub; Dianna M Milewicz
Journal:  Semin Vasc Surg       Date:  2022-02-25       Impact factor: 1.222

6.  Genetic abnormalities in fetal congenital heart disease with aberrant right subclavian artery.

Authors:  Hairui Sun; Lu Han; Xiaoyan Hao; Zhaoyi Chen; Jingyi Wang; Tong Yi; Xiaoxue Zhou; Xiaoyan Gu; Jiancheng Han; Ye Zhang; Lin Sun; Xiaowei Liu; Siyao Zhang; Yong Guo; Hongjia Zhang; Yihua He
Journal:  Sci Rep       Date:  2022-09-23       Impact factor: 4.996

7.  Multidisciplinary aortopathy clinics: A systematic scoping review of the literature and evaluation of patient experiences from a newly started clinic in Norway.

Authors:  Trine Bathen; Kirsten Krohg-Sørensen; Ingeborg B Lidal
Journal:  Am J Med Genet A       Date:  2020-08-19       Impact factor: 2.578

  7 in total

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