A first in pediatric cardiology


As part of a strategic initiative by the Canadian Institutes of Health Research (CIHR), a $2.5-million research grant has been awarded to a unique multidisciplinary project, coordinated by the CHU Sainte-Justine, that will bring together the MUHC Montreal Children’s Hospital, the Institut de recherches cliniques de Montré,al and the Montreal Heart Institute. The study will investigate the genetic determinants of congenital heart disease, the leading cause of death in Quebec children under the age of one.

According to Dr. Gregor Andelfinger, Canada’s leading pediatric specialist in cardiovascular genetics and one of the project’s main researchers: “The CIHR grant will allow the team to study the significance of genetic factors in the appearance of pathologies using three complementary approaches. First, the search for new genes responsible for heart malformations, especially diseases causing obstruction of the left heart; second, the study of the interaction between the genes and the environment, especially nutrition factors in pregnant women; and finally, the study of the influence of genetic factors on the evolution of cardiac disease, especially in Tetralogy of Fallot, a problem that affects about 10 per cent of all congenital cardiopathies.”

Why do some families have more malformations than others?Heart malformations affect one to two per cent of children and account for 25 per cent of all congenital malformations in humans. These diseases represent the largest category of congenital abnormalities and the leading cause of death in children under one (one in 1,000 will need surgery). In certain Quebec families, there are several members with heart malformations. “The objective of the five-year research project is to identify the genes at the root of cardiac malformations,” says Dr. Andelfinger. “The study results will help health professionals target medical therapies and prevent infant congenital heart disease. It will also allow us to work on problems before they occur, rather than simply repairing defective plumbing.”

An inter-institutional teamThis study is being made possible through special collaborative efforts between researchers from Quebec’s largest medical institutions. The team will access the Sainte-Justine database of over 18,000 cases going back over 20 years. This extensive study will also draw on the support of all Quebec pediatric cardiologists, as well as adult cardiologists who specialize in congenital malformations. In fact, the entire university community in Quebec will be involved in the project.

Genomics and human developmentFrom genes to genetic medicine is one of the IRSC’s genetic research priorities, and its goal is to leverage the significant progress that has been achieved in basic research into our understanding of how genetic factors lead to normal or abnormal development processes in order to make a bigger impact on medical practices. This operating grant will contribute to the financial support for projects that will close the gaps between clinical research and basic scientific research by targeting an important human development problem.

The grant was awarded in collaboration with the Heart and Stroke Foundation of Canada. Besides its originality and scientific importance, the project was chosen because of the unique complementarity of its members’ expertise and the international recognition of their work.