When people are diagnosed with hypertrophic cardiomyopathy, testing is performed to understand their risk of sudden death. This testing can include a heart rhythm monitor, a heart MRI and an exercise stress test. It’s also important to understand family history when determining sudden death risk. In patients found to be at high risk for sudden death, an implantable cardioverter defibrillator can be implanted to lower that risk.

Because hypertrophic cardiomyopathy can be inherited, screening of family members is needed, even if they have no symptoms. The reason to screen asymptomatic family members is because sudden death risk does not correlate with symptoms.

Current guidelines recommend screening first-degree family members of patients who are diagnosed with hypertrophic cardiomyopathy. For your family, this would mean that if your sister has children, they should be screened prior to the onset of puberty. This screening can help them understand their risks and guide what level of activity participation is advised. In addition to being screened yourself, your parents and any other siblings should be screened.

Screening can occur in two ways: via genetic testing or echocardiography. Genetic testing is a blood test that would first be performed in your sister. If the genetic cause of her hypertrophic cardiomyopathy is identified, this can be used to screen you and other family members.

Use a genetic counselor to help with the process of genetic screening. If genetic testing is not pursued or if a genetic cause of hypertrophic cardiomyopathy is not identified in your sister, periodic screening with an echocardiogram for you and the family members discussed would be recommended.

An echocardiogram can be arranged by a primary care provider or a cardiologist. In adults, this should occur every three to five years. In children or adolescents, this should occur every one to three years.

While it’s great to hear that your sister doesn’t have symptoms, she should be aware of any changes and talk with her health care provider. Most patients with hypertrophic cardiomyopathy have a normal life span, but it is important that your sister maintain care with a cardiologist who is comfortable navigating hypertrophic cardiomyopathy. ― Jeffrey Geske, M.D., Cardiovascular Disease, Mayo Clinic, Rochester, Minnesota

(Mayo Clinic Q & A is an educational resource and doesn’t replace regular medical care. E-mail a question to MayoClinicQ&A@mayo.edu. For more information, visit www.mayoclinic.org.)

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