What it is
Cardiomyopathy means a disease of the heart muscle. In hypertrophic cardiomyopathy, the heart wall becomes thicker than expected. In dilated cardiomyopathy, the heart chambers enlarge and the muscle may pump less effectively. In arrhythmogenic right ventricular cardiomyopathy (ARVC), muscle in the right side of the heart can be replaced over time by scar or fatty tissue, which may affect heart rhythm.
Not every case is inherited, but in some families a change in a gene, called a variant, is passed from parent to child. Many of these genes affect the proteins that help heart muscle contract or hold its cells together. People sometimes search for an enlarged heart genetic cause when a relative has been told they have a thickened or enlarged heart.
Genetic tests show risk or carrier status. They do not diagnose heart disease on their own. A result has to be read alongside personal and family history, a physical exam, imaging and bloodwork by a qualified cardiologist, electrophysiologist or genetic counselor. A negative result does not rule out risk, and a variant of uncertain significance is not a diagnosis.
How it’s traditionally been approached
Cardiomyopathy has traditionally been approached by looking at symptoms, family history, a physical exam and heart tests such as an electrocardiogram, echocardiogram or other imaging. Cardiologists often ask about relatives who had heart problems, heart failure, rhythm issues or an unexpected early death.
Cardiomyopathy family history screening has long been a part of care when one person is found to have an inherited form. Close relatives may be invited to have their own evaluations, even if they feel well, because some conditions can be present before symptoms appear.
More recently, a cardiomyopathy gene panel has become an option. A panel looks at many genes linked to heart muscle conditions in one test. Whether testing makes sense, and which test, is a decision for a licensed clinician. Coverage varies by insurer, state and diagnosis, so confirm with your insurer and provider.
How the right cardiologist may help
The right cardiologist, especially one with experience in inherited heart conditions, may help you make sense of your family history and decide whether genetic testing is worth discussing. A first visit generally involves reviewing your health story, your relatives' stories, and any previous tests or records you can bring.
A cardiologist may also work with a genetic counselor, who can explain what a test can and cannot show before you decide. Genetic counseling is generally recommended both before and after testing. If a disease-causing variant is found, cascade testing, which means offering testing to biological relatives, may be discussed. Genetic counselor licensing varies by state.
Questions you might ask: Is genetic testing appropriate for me or my family? Who in the family should be tested first? What might a negative result or a variant of uncertain significance mean for us? How would results affect screening for relatives? Also ask about the Genetic Information Nondiscrimination Act (GINA), which protects against genetic discrimination in US health insurance and employment but does not cover life, disability or long-term-care insurance. Ask about those before testing.
The whole-person view
Body, mind and stress affect each other. Learning that a heart condition may run in your family can bring worry, guilt or fear for children and siblings, and long-term stress can in turn be felt in the body through tension, poor sleep or a racing heart. Caring for the whole person means attending to both the heart and the emotions around it.
Some people find support in body-based approaches such as those offered through Somatic Experiences, which focus on how stress is held in the body. Others prefer talk therapy, and Therapists.plus can help you find a licensed therapist. These approaches are complements to, not replacements for, care from your cardiologist, and no approach is better than another for everyone.
Somatic Experiences: nervous system regulation →Somatic Experiences: embodiment and movement →Therapists.plus: anxiety panic and ocd →Therapists.plus: mind body connection →
Keep in mind
- This page is educational only and is not medical advice; licensed professionals should guide all decisions about testing and care.
- Genetic results do not predict the future with certainty, and no test or procedure can promise to prevent a heart attack or sudden cardiac death.
- Check coverage with your insurer and provider, and ask about life, disability and long-term-care insurance before testing.
- For an emergency such as chest pain, fainting or trouble breathing, call 911. If you are in emotional crisis, call or text 988.
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Frequently asked questions
What is cardiomyopathy genetic testing?
Cardiomyopathy genetic testing is a lab test, usually using blood or saliva, that looks for gene variants linked to inherited heart muscle conditions. It shows risk or carrier status and does not diagnose disease on its own. A cardiologist or genetic counselor interprets it alongside your history, exam and heart tests.
Is there a hypertrophic cardiomyopathy genetic test?
Yes, a hypertrophic cardiomyopathy genetic test exists and is often part of a larger gene panel. It may find a variant in some people with the condition, but not everyone with it has an identifiable variant. A negative result does not rule out risk, so results need expert interpretation.
Is dilated cardiomyopathy inherited?
Dilated cardiomyopathy can be inherited in some families, though it can also have other causes. A cardiologist may review your history and your relatives' histories to consider whether a genetic cause is possible. Genetic testing may be discussed in that context.
What is arrhythmogenic right ventricular cardiomyopathy?
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle condition, often inherited, that mainly affects the right side of the heart and may be linked to heart rhythm problems. It is evaluated with a combination of history, heart tests and sometimes genetic testing. A cardiologist or electrophysiologist can explain how it applies to you.
What does a variant of uncertain significance mean?
A variant of uncertain significance means scientists do not yet know whether the gene change is harmless or linked to disease. It is not a diagnosis and should not be treated as one. A genetic counselor can explain how it fits with your family history and whether it may be reviewed again over time.
Should my relatives be screened if I have cardiomyopathy?
Often a cardiologist will discuss cardiomyopathy family history screening with close relatives when an inherited form is suspected. If a disease-causing variant is found, cascade testing of biological relatives may be offered. Your care team can advise who should be evaluated and how.
Educational resource. CardioGenes shares general information and connects people with independent cardiologists. It is not medical advice, diagnosis or treatment. Talk with a licensed professional about your health.