Diagnosing and Screening Genetic Heart Conditions

Featuring Dr. Julia Cadrin-Tourigny, MD, FRCP, Cardiologist – Electrophysiologist

Duration: 4 minutes, 18 seconds

Several conditions require an evaluation cardiogenetic. First, different types of cardiomyopathy, or heart muscle disorders. These include hypertrophic cardiomyopathy, some forms of familial cardiomyopathies, and arrhythmogenic right ventricular cardiomyopathy.

There are also some electric problems of the heart that require an evaluation. These include Brugada syndrome, long QT syndrome among other arrhythmic problems, and also some forms of familial sudden death. There are also some cholesterol problems that need evaluation, as well as some aortic problems.

During a consultation in cardiogenetics, you usually see different people. First, we are a group of doctors working together with different specialities. There are also genetic counsellors working with us, as well as some nurses specialize in cardiogenetics. The first part of the consultation is going through your medical history and the tests you already had, and seeing if other tests are necessary to come up with a good diagnosis.

Then, we go through your family history, which is very important in the case of cardiogenetics. This includes building a family tree or a pedigree, and we put a lot of care into finding out about early cardiac diseases in the family, as well as cases of sudden death. Then we go through the treatment, see if medications are necessary, and in some rare cases – if for example, a defibrillator would be indicated. Then, we discuss about the disease. We answer your questions and we see if some preventative measures should be done.

The last part is the family screening. We make sure we know who should be screened about the disease in the family, and how we should perform the screening. Sometimes you’ll be approached for some research projects or being part of a registry about your disease. This is always optional.

Genetic testing is a blood test specifically looking at DNA. DNA is basically the instructions to build proteins in your body, for every organ, including the heart in the case that interests us. So by doing this test, we are able to see if some genes involved in the function of the heart are affected. The genetic testing can be ordered for different reasons. It can help us with your diagnosis. It can help us sometimes to guide the treatment, but it can also help us to screen other members of the family.

In your case, if we think that genetic testing should be done, this can be performed after your visit, so the blood test can be drawn after your visit at the genetic clinic, and then this blood test gets sent to a molecular lab for analysis. This result takes about a few weeks to a few months to be available, depending on the cases.

Family screening for genetic diseases is important, mainly to prevent complications in your family members. In some diseases, knowing more early about the disease can prevent complications such as heart failure, arrhythmia, and even in some cases death. The screening of the family can be done in two ways. First, if the results of the genetic testing are positive in a patient, this can be used to screen other family members.

If we don’t have positive results to one of these tests, we can perform regular tests such as blood tests, electrocardiograms and cardiac imaging tests to see if someone is at risk or affected by the disease. If you want more information on cardiogenetics, or if you think you may be affected by one of these diseases, you should contact your doctor or your cardiologist.

Presenter: Dr. Julia Cadrin-Tourigny, Cardiologist, Montreal, QC

Local Practitioners: Cardiologist