Thinking About Genetic Testing for Dilated Cardiomyopathy (DCM)?

What is DCM?

• Dilated Cardiomyopathy (DCM) is a heart condition where the heart muscle becomes stretched and weak.

• It affects how well your heart pumps blood.

• DCM often runs in families. Over 60 genes are linked to DCM.

Why Consider Genetic Testing for DCM?

• Helps Your Treatment:

  • Genetic testing can guide your doctor's treatment choices.

  • All of us have a large number of genetic variants, or changes in our DNA that make us different from other people.

  • Most of these are harmless, but certain variants in some genes (LMNA, FLNC, DSP, DES, RBM20, PLN) increase risk for serious heart problems.

  • Doctors may suggest devices like an ICD or pacemaker, which can help monitor and extend your heart health.

• Helps Your Family:

  • If your test finds a gene change, your family (parents, siblings, children) can have specific genetic testing.

  • This helps identify family members at risk early, so they can get timely care to prevent serious health issues.

• Family Planning:

  • Genetic testing helps you understand your risk of passing DCM to your children.

  • If you are thinking about having kids but concerned about their health, you can discuss options like preimplantation genetic testing (PGT) with a genetic counsellor.

Understanding Your Results:

• Gene changes are grouped by their risk:

  • Pathogenic/Likely Pathogenic: These are variants that we know or expect to cause cardiomyopathy. If identified, these variants are likely to cause the disease.

  • Variant of Uncertain Significance (VUS): These are variants that may or may not be harmful. Usually, these will not be tested in your extended family members.

  • Likely Benign/Benign: There is a variant present, but it is likely harmless.

• Negative Results: Doesn’t mean you don't have a genetic condition. Regular heart check-ups are still important for family.

What Genetic Results Mean for Your Family:

• DCM often passes down with a 50% chance per child.

• If your test finds a genetic variant, your family (parents siblings, children) can have specific genetic testing to see if they carry the same variant as you.

• If your test did not find a genetic variant, we may recommend that your family receive regular ECG and ultrasound checkups of their heart.

Your Rights in Canada:

• Genetic test results cannot be used against you (e.g., insurance, jobs, housing).

• Companies cannot deny or charge more based on your genetic information.

• Written consent is needed to share your results.

• Breaking this law can lead to fines or prison.

Bottom Line: Your genetic information is protected in Canada, allowing safe and informed genetic testing.