Congenital heart defects, or CHDs, are the most common type of all birth defects with an average of 1 in 100 babies being born with the disease. Other times, individuals acquire heart defects into childhood.
Among the known causes of CHD are:
- Genetic factors
- Environmental conditions
- A combination of genetic and environmental factors or multifactorial
Genetic factors may include CHDs associated with single-gene mutations, such as familial hypertrophic cardiomyopathy and Marfan syndrome. Other genetic conditions are caused by contiguous gene deletions or additions, where more than one gene may be involved. Another group of heart defects are caused by mitochondrial defects.
In the cardiogenetics clinic, we strive to provide patients and their families more complete clinical care by providing access to specialists in both cardiology and genetics during the assessment. We discuss management, treatment and care issues from a cardiology perspective, as well as provide genetic counseling and information about genetic testing.