@Article{chd.12630,
AUTHOR = {Paul C. Helm, Ulrike M. M. Bauer, Hashim Abdul‐Khaliq, Helmut Baumgartner, Hans‐Heiner Kramer, Christian Schlensak, Thomas Pickardt, Anne‐Karin Kahlert, Marc‐Phillip Hitz},
TITLE = {Patients with congenital heart defect and their families support  genetic heart research},
JOURNAL = {Structural and Congenital Heart Disease},
VOLUME = {13},
YEAR = {2018},
NUMBER = {5},
PAGES = {685--689},
URL = {http://www.techscience.com/schd/v13n5/39045},
ISSN = {3071-1738},
ABSTRACT = {<b>Background:</b> 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.<br/>
<b>Methods:</b> 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.<br/>
<b>Results:</b> 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%).<br/>
<b>Conclusions:</b> 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.},
DOI = {10.1111/chd.12630}
}