Heart screening if a relative has cardiomyopathy
Cardiomyopathy is a disease of the heart muscle, where the walls become stretched, thickened or stiff. The NHS says most types are inherited. (NHS) This page covers the checks guidance lists for the parents, brothers, sisters and children of someone with cardiomyopathy, or of someone who died suddenly from a heart cause, not treatment. For other inherited heart conditions, see Marfan syndrome and bicuspid aortic valve.
The main guidance
In the US, the Heart Failure Society of America (HFSA) practice guideline on the genetic evaluation of cardiomyopathy (2018) covers family history, genetic testing and heart checks for relatives, with suggested intervals by age. (HFSA, 2018) The 2022 expert consensus statement from the European, US, Asia Pacific and Latin American heart rhythm societies (EHRA/HRS) covers genetic testing for each type of cardiomyopathy and after a sudden cardiac death. (EHRA/HRS, 2022) In Europe, the 2023 European Society of Cardiology (ESC) cardiomyopathy guideline sets out the family pathway; it is cited here through an open-access summary published by the Netherlands Society of Cardiology. (ESC 2023, NVVC summary)
Checks the guidance lists
| Check | Who and when | Source |
|---|---|---|
| Family history over at least 3 generations, drawn as a family tree | For everyone with cardiomyopathy | (HFSA, 2018)(ESC 2023, NVVC summary) |
| Genetic counseling | For people with cardiomyopathy and their family members | (HFSA, 2018) |
| Genetic test in the relative with cardiomyopathy | First, in the most clearly affected family member | (HFSA, 2018)(ESC 2023, NVVC summary) |
| Gene test for the family variant (cascade testing) | First-degree relatives, once a pathogenic or likely pathogenic variant is found | (HFSA, 2018)(EHRA/HRS, 2022)(ESC 2023, NVVC summary) |
| ECG and echocardiogram | First-degree relatives, whether or not a gene variant is found | (HFSA, 2018)(ESC 2023, NVVC summary) |
| Repeat heart checks | Relatives who carry the variant, and relatives in families with no gene result, at regular intervals | (HFSA, 2018)(EHRA/HRS, 2022) |
| Clinical heart check of first-degree relatives | After a sudden cardiac death in the family | (EHRA/HRS, 2022) |
Genetic testing and cascade testing
The HFSA guideline recommends genetic testing for people with cardiomyopathy, starting with the most clearly affected family member, and cascade genetic testing of at-risk relatives when a pathogenic or likely pathogenic variant is found. It recommends genetic counseling for patients and their family members. (HFSA, 2018) The ESC summary says genetic testing of the affected person is recommended even when it brings them no direct benefit, if relatives could benefit through cascade testing. It says cascade testing is not recommended when the only finding is a variant of unknown significance. (ESC 2023, NVVC summary) The NHS says that once the gene change is found, relatives can be tested for it and, if they have it, their condition can be monitored early. (NHS) See genetic carrier screening for a different kind of gene test.
Heart checks for relatives
The HFSA guideline recommends heart screening for at-risk first-degree relatives, whether or not a disease-causing variant has been found in the affected person, because cardiomyopathy can be silent for a long time. It says an ECG and an echocardiogram are usually the basis of the first check at all ages, with other tests added for the type of cardiomyopathy. (HFSA, 2018) The EHRA/HRS statement says relatives who carry the variant should be checked at regular intervals, and so should relatives in families where no gene test was done or no variant was found, because the age the disease starts can vary a lot within one family. (EHRA/HRS, 2022) For dilated cardiomyopathy, it says a normal echocardiogram and ECG do not rule out the disease starting later. (EHRA/HRS, 2022) See ECG at a checkup for the ECG itself.
How often, by age
The HFSA guideline suggests these intervals for first-degree relatives who are not yet affected, when no gene test was done or it was not informative, or when the relative carries the family variant. In the youngest groups, checks apply when a parent, brother or sister has the condition. (HFSA, 2018)
| Type | 0 to 5 | 6 to 12 | 13 to 19 | 20 to 50 | Over 50 |
|---|---|---|---|---|---|
| Dilated | Yearly | Every 1 to 2 years | Every 1 to 3 years | Every 2 to 3 years | Every 5 years |
| Hypertrophic | Yearly | Every 1 to 2 years | Every 2 to 3 years | Every 5 years | Every 5 years |
| Arrhythmogenic right ventricular | Consider once | Every 5 years | Every 1 to 3 years | Every 2 to 3 years | Every 3 years |
| Restrictive | Yearly | Every 1 to 2 years | Every 2 to 3 years | Every 3 years | Every 5 years |
The HFSA guideline says most dilated and hypertrophic cardiomyopathy starts in adolescence or adulthood but both can occur in babies and young children, and that the intervals should be fitted to the type, the age it started in other family members and the gene involved. (HFSA, 2018)
After a sudden cardiac death in the family
The EHRA/HRS statement says that when a sudden cardiac death may have a genetic cause, a targeted gene test on the person who died should be done, and that when a death under 50 stays unexplained after an autopsy, toxicology and a heart rhythm gene panel, testing may be widened to cardiomyopathy genes. (EHRA/HRS, 2022) It says first-degree relatives should have a clinical heart check, aimed at the condition the person had if one was found, and a predictive gene test when a pathogenic variant was found. When a non-genetic cause of death is found, it says relatives do not need these checks. (EHRA/HRS, 2022) The HFSA guideline asks about sudden death in the family, especially before age 40, including single-vehicle accidents, drowning and sudden infant death. (HFSA, 2018) See family history and screening and how to collect your family health history.
Routine age-based screening
These checks are added to, not instead of, the routine screenings for your age; see screenings by age and gender and heart screenings by age.
When to contact a provider
MedlinePlus, hypertrophic cardiomyopathy, when to contact a medical professional: (MedlinePlus, HCM)
- Contact your provider if: You have any symptoms of hypertrophic cardiomyopathy.
- You develop chest pain, palpitations, faintness, or other new or unexplained symptoms.
MedlinePlus, dilated cardiomyopathy, when to contact a medical professional: (MedlinePlus, DCM)
- Contact your provider if you have symptoms of cardiomyopathy.
- Get emergency medical help right away if you have chest pain, palpitations or fainting.
Where they differ:
- Relatives without the family variant. The EHRA/HRS statement says relatives who test negative for the known family variant can be released from further heart checks, (EHRA/HRS, 2022) and the ESC summary says they can be discharged; (ESC 2023, NVVC summary) the HFSA guideline still recommends one baseline heart check for them, in case the variant does not explain the disease in the family. (HFSA, 2018)
- Set intervals. The HFSA guideline gives suggested intervals by age and type; (HFSA, 2018) the EHRA/HRS statement says regular intervals without setting them and says the tests depend on the gene. (EHRA/HRS, 2022)
- Which relatives without a gene result. The ESC summary refers parents, siblings and children for heart checks when no genetic cause is found; (ESC 2023, NVVC summary) the HFSA guideline recommends heart checks for at-risk first-degree relatives in every case, gene result or not. (HFSA, 2018)
Your doctor decides what your result means for you.
Questions people ask
Why should relatives be checked if they feel well?
The HFSA guideline says cardiomyopathy is often silent for long periods, so relatives who seem unaffected may have it, and it can only be found by clinical screening. It recommends screening for at-risk first-degree relatives (parents, brothers, sisters and children). (HFSA, 2018)
What does the heart check involve?
The HFSA guideline says an ECG and an echocardiogram are usually the basis of the first screening at all ages, with other tests added for the type of cardiomyopathy. MedlinePlus says family members of people with hypertrophic cardiomyopathy are most often screened with an echocardiogram or genetic testing. (HFSA, 2018) (MedlinePlus, HCM)
How often are the checks repeated?
The HFSA guideline gives suggested intervals by age and type. For hypertrophic cardiomyopathy: every 2 to 3 years from 13 to 19, then every 5 years. For dilated cardiomyopathy: every 1 to 3 years from 13 to 19, every 2 to 3 years from 20 to 50, then every 5 years. Children under 13 are checked when a parent, brother or sister is affected. (HFSA, 2018)
What happens if my gene test is negative?
When a disease-causing variant is known in the family, the EHRA/HRS statement and the 2023 ESC guideline say relatives who do not carry it can be released from regular heart checks. The HFSA guideline still recommends one baseline heart check for them. (EHRA/HRS, 2022) (ESC 2023, NVVC summary) (HFSA, 2018)
What if a relative died suddenly and no cause was found?
The EHRA/HRS statement says first-degree relatives of someone who died of a sudden cardiac death should have a clinical heart check, aimed at the condition the person had if one was found, and a gene test if a disease-causing variant was found in the person who died. (EHRA/HRS, 2022)
Related
- Brain aneurysm screening if it runs in the family
- Family history and screening
- How to collect your family health history
- ECG at a checkup
- Screenings for people with Marfan syndrome
- Screenings if you have a bicuspid aortic valve
- Screenings if you have heart failure
- Heart screenings by age
- Screenings by age and gender