Right ventricle dysplasia can run in families

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 that 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 that 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? — J.P.

DEAR READER » Right ventricle dysplasia, also called arrythmogenic right ventricular cardiomyopathy, is a condition of a specific type of abnormality in the right ventricle, which is 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 at about age 30, but certainly can be diagnosed in the 50s. The fact that you have had no symptoms at age 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.

DEAR DR. ROACH » What can you tell me about Powassan virus? — R.C. DEAR READER » Powassan virus is related to West Nile and Yellow Fever viruses. It is transmitted by the same tick that transmits Lyme disease (Ixodes scapularis, the black-legged tick). There have been only very few cases reported, but it is likely that many clinicians don’t yet know about this condition, which is, unfortunately, serious. Symptoms start with fever and headache, but the virus can spread to the brain, causing confusion, movement disorders and seizures. People with severe disease often have long-term neurological symptoms, and up to 10 percent die.

Recent reports showed that only 1 to 10 percent of ticks carry the virus. However, it is much more easily transmitted than Borrelia burgdorferi, the bacterium that causes Lyme disease. Lyme disease usually requires the tick to be attached for 24 hours, while Powassan virus can be transmitted in just 15 minutes. This makes preventing tick bites in the first place, with protective clothing and effective insect repellants, even more important.

Symptoms usually begin between one and four weeks after the bite. Both patients and clinicians should be aware of this disease, which may become both more frequent and more frequently recognized.