Congenital Heart Disease Genetic Study
Research type
Research Study
Full title
Investigation of the causes of Congenital Heart Disease
IRAS ID
136002
Contact name
Judith Goodship
Contact email
Sponsor organisation
The Newcastle upon Tyne Hospitals NHS Foundation Trust
Research summary
This study investigates the causes of congenital heart disease (CHD), the natural history associated with differing causes of CHD and long term post-operative complications associated with differing causes of CHD. Its aims are to improve the information given to families and as an aid to diagnostic decision making. Clinical information will be recorded including family history, parental occupations and illnesses, pregnancy, as well as medical problems in the child. Saliva or blood samples will be taken for genetic studies from children with CHD and their parents for genetic studies. At the time of surgery, any heart tissue that would be discarded will be retained for histopathology and RNA expression and protein studies. At the time of surgery, a small skin biopsy will be taken for fibroblast culture. If a genetic change is inherited from a parent that parent will be offered an echocardiogram.
REC name
North of Scotland Research Ethics Committee 2
REC reference
13/NS/0117
Date of REC Opinion
2 Sep 2013
REC opinion
Further Information Favourable Opinion