Familial hypercholesterolemia (high cholesterol)

Cardiomyopathies (hypertrophic or dilated)

Amyloidosis

Arrythmias (long QT syndrome, Brugada syndrome)

Aortopathies

If you have been diagnosed with cardiovascular disease that may be associated with an inherited predisposition, genetic testing can be an option to optimize your medical management. It’s also a way to inform your family members about their risk of developing the same heart condition and to allow access to targeted screening.

Genetic testing is recommended for anyone with a family history of hereditary cardiovascular disease. If one of your parents, siblings or other close family members has a hereditary cardiovascular disease, you can determine if you are at risk of developing the same condition in your lifetime.

In the case of a sudden cardiac death, the victim’s family may request screening tests to evaluate if there is a hereditary component. Depending on the results obtained, personalized medical care could be considered as a preventive measure.

Your personal and family history of hereditary cardiovascular disease

The likelihood of developing hereditary cardiovascular disease in your lifetime

The different genetic testing options for cardiovascular disease depending on your profile

The implications of genetic testing in your life

Preventive management with your doctor, if necessary

We work with several clinical laboratories that are accredited to perform medical genetic testing at the request of a physician. There are many genes associated with hereditary cardiovascular diseases and the most appropriate test will depend on an individual’s personal situation and their medical and family history.

Genetic testing is available for familial hypercholesterolemia, cardiomyopathies, amyloidosis, arrhythmias, and several other specific cardiovascular diseases. We will collaborate with your physician to identify the most appropriate test for your situation.

A genetic test evaluates the sequence of the gene to find variants, like reading a book to find spelling mistakes. We all have genetic variants, not all of them are problematic. Certain variants, called pathogenic variants or mutations, have a large impact on the function of the gene. These variants can explain a diagnosis of cardiac disease or indicate an increased risk to develop the disease associated with the gene where the variant is found.