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

Abstract

Background Congenital heart disease (CHD) affects up to 1% of live births the etiology remains relatively poorly understood. Thus, cardiac research is needed to understand the underlying pathomechanisms of the disease. About 51 000 CHD patients are registered in the German National Register for Congenital Heart Defects (NRCHD). Patients and relatives were interviewed online about their willingness to support genetic 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 motivation to ask an additional family member for 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 unravel the pathomechanism of CHD. A future aim should be to offer an individual risk assessment for each patient based on the underlying genetics.

Health-Related Quality of Life in Children and Adolescents with Simple Congenital Heart Defects before and after Transcatheter Intervention Therapy: A Single-Center Study

“…1) Due to the development of medical imaging and the rational allocation of medical resources, increasingly more simple congenital heart defects are being diagnosed and treated in children. [2][3][4] Due to factors such as unbalanced economic and social development, some patients do not receive a diagnosis or treatment until they are an adolescent. [5][6][7] Studies on simple congenital heart defects should not only focus on the hemodynamic changes in heart malformations and the magnitude of the effect of correction but also on the changes in patients' quality of life in the later period.…”

Chinese Parents’ Perceptions, Attitudes, and Treatment-Seeking Intentions Toward Congenital Heart Disease with Charitable Assistance: A Cross-Sectional Study in a Congenital Heart Center in Southern China

“… 1 , 2 Due to the development of medical technology and resources, an increasing number of patients with CHD have been diagnosed and treated. 3 , 4 However, due to regional economic backwardness and uneven social development, patients in impoverished areas with insufficient medical equipment have not been diagnosed or treated until adolescence and adulthood. 5–7 With the disease’s progress, repeated pneumonia, and decreased patient activity, CHD will affect children’s growth, development, and quality of life.…”