Dear Dr. Roach: One of my sisters died unexpectedly in late January of pneumonia. She did not know she had it. She showed no symptoms prior to her death. She went to work the day before and complained a little to co-workers of minor chest pain. She stayed home the following day, and her husband found she had died when he returned from an errand. The autopsy showed “death from pneumonia contributed by right ventricle dysplasia.” She had no idea she had this. She was 56. What are the chances the rest of her siblings have this?
I am 67. I went to the cardiologist, and he did an EKG, which was OK. He could not do an echo, because I had no symptoms and my insurance wouldn’t pay for it. I have five more siblings; the youngest is 52. Should we be worried about this?
Dear J.P.: Right ventricle dysplasia, also called arrythmogenic right ventricular cardiomyopathy, is a condition of a specific type of abnormality in the right ventricle, associated with rhythm disturbances of the heart. It is not often diagnosed, but may be much more prevalent than thought. In Northern Italy, where much of the work on this condition has been done, it has been found to be a frequent cause of sudden cardiac death, especially in athletes. It usually is diagnosed about age 30, but can be diagnosed in the 50s. That you’ve had no symptoms at 67 lessens the likelihood that you have the condition.
However, the condition does run in families, and when it does, about a third of family members are found to have it. Being a sibling and being female increase the likelihood of having the condition. The EKG can be abnormal, but half of people with proven ARVC have a normal EKG at the time they first see the doctor (although it often becomes abnormal over time). The recommendation for evaluating someone with suspected ARVC (including those with a strong family history) is clear: An echocardiogram should be performed. This usually makes the diagnosis, but some people may need additional testing, such as an MRI of the heart.
Given your family history, I would recommend that you and all of your siblings be evaluated, and I would ask your cardiologist to appeal the decision by the insurance company.
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