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Patients with congenital heart defect and their families support genetic heart research

Paul C. Helm1, Ulrike M. M. Bauer1,2, Hashim Abdul‐Khaliq2,3, Helmut Baumgartner1,4, Hans‐Heiner Kramer5, Christian Schlensak2,7, Thomas Pickardt1, Anne‐Karin Kahlert5,6*, Marc‐Phillip Hitz5*

1 National Register for Congenital Heart Defects, DZHK (German Center for Cardiovascular Research), Berlin, Germany
2 Competence Network for Congenital Heart Defects, DZHK (German Center for Cardiovascular Research), Berlin, Germany
3 Department of Paediatric Cardiology, Saarland University Medical Center, Homburg, Germany
4 Center for Adults with Congenital Heart Defects (EMAH‐Center), University Hospital Muenster, Muenster, Germany
5 Department for Congenital Heart Disease and Pediatric Cardiology, DZHK (German Center for Cardiovascular Research), University Hospital Schleswig‐Holstein ‐ Campus Kiel, Germany
6 Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Dresden, Germany
7 Department of Thoracic and Cardiovascular Surgery, University Medical Center Tübingen, Tübingen, Germany

* Corresponding Author: Paul Christian Helm, Dipl.‐Psych. Nationales Register für angeborene Herzfehler e. V., Augustenburger Platz 1, Berlin, Germany. Email: email

Congenital Heart Disease 2018, 13(5), 685-689.


Background: Congenital heart disease (CHD) affects up to 1% of live births the etiol‐ ogy remains relatively poorly understood. Thus, cardiac research is needed to under‐ stand the underlying pathomechanisms ofthe disease.About51 000CHDpatients are registered in the German National Register for Congenital Heart Defects (NRCHD). Patients and relatives were interviewed online about their willingness to support ge‐ netic heart research in order to donate a biological sample.
Methods: Study participants were recruited via the database of the NRCHD. Seven thousand nine hundred eighty‐nine patients were invited to participate in the study. Participants have been asked to rate three questions on a ten‐staged Likert scale about their willingness to provide a saliva/blood sample and their motivation to ask family members to support genetic heart research.
Results: Overall, 2035 participants (patients/relatives) responded the online survey (25.5%). Two‐thirds of the participants are willing to donate a saliva sample. Whereas the motivation to provide a blood sample is slightly lower (patients: 63.8%, relatives: 60.6%). Female relatives are more fain to provide a saliva sample as well as a blood sample compared to men (saliva sample: P < .001, blood sample: P < .01). The motiva‐ tion to ask an additional family memberfor a biological sample was significantly higher in relatives (59.2%) compared to patients (48.4%).
Conclusions: The motivation to provide biological samples is high reflecting the need for genetic research to unravelthe pathomechanism of CHD.Afuture aim should be to offer an individual risk assessment for each patient based on the underlying genetics.

Cite This Article

Helm, P. C., M., U., Abdul‐Khaliq, H., Baumgartner, H., Kramer, H. et al. (2018). Patients with congenital heart defect and their families support genetic heart research. Congenital Heart Disease, 13(5), 685–689.

cc This work is licensed under a Creative Commons Attribution 4.0 International License , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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