Heritable syndromic aortopathies are diseases that often present during the pediatric age. Given their rarity, there are scarce Canadian data available in literature. In addition, there is limited awareness of these diseases in the community of Canadian health care professionals. The mission of the CANadian Aortopathy and Connective Tissue Disorders Registry (CAN-ACT) is to gain knowledge of these diseases in the pediatric Canadian population, in order to best identify and treat these patients, and guide advocacy at institutional and governmental levels to improve access to health care resources.
CAN-ACT aims to determine:
- How many children in Canada are being treated for heritable syndromic aortopathies?
- What are their genetic diagnoses and clinical features?
- How and where are they being treated?
- What is the impact of these diseases on their quality of life and physical activity?
- How can we better advocate for these children to improve their health care and quality of life?