Diagnosing Familial Dilated Cardiomyopathy
Dilated cardiomyopathy is often due to an underlying genetic change. This has important implications for a patient’s siblings, children, and parents. Additionally, in some cases, other organ systems may be affected due to the same genetic change.
Clinical testing includes echocardiography (ultrasound pictures of the heart), ambulatory telemetry (monitoring the rhythms of the heart, typically at home over 24 hours or more), cardiopulmonary exercise testing (treadmill or bike test to measure exercise capacity), blood tests, and other tests.
Screening of family members
All first-degree family members (sons, daughters, brothers, sisters, parents) of a patient with familial dilated cardiomyopathy should undergo screening for dilated cardiomyopathy with echocardiography and electrocardiogram. Other family members may undergo screening if their first-degree relatives are found to have disease or have high risk occupations or activities such as competitive sports. If genetic testing is performed and a mutation is found, all family members who have the mutation are recommended to undergo a comprehensive clinical assessment. Allindividuals with symptoms of dilated cardiomyopathy should undergo clinical evaluation.
Genetic testing in familial dilated cardiomyopathy
At Stanford’s Center for Inherited Cardiovascular Disease, patients with dilated cardiomyopathy are evaluated carefully for evidence of a familial component of disease. Currently there is no available single genetic test that allows comprehensive testing of all genes that have been shown to cause dilated cardiomyopathy. Based on the clinical features of a family’s or patient’s presentation of disease, our team will determine which genetic test, if any, is most appropriate. If a genetic test finds a mutation that is likely to cause disease, other members of your family can undergo greatly simplified testing for the initial mutation found. Our team of experts will explain to you and your family the full benefits and risks of genetic testing. Knowing the causative mutation allows for personalized screening in parents, siblings and other family members, early identification, and preventative treatment to halt or reverse the progression of disease. Additionally, in certain cases, treatments and risks of inheritance differ depending on the findings of genetic testing.
