The Role of Genetics in My Cardiomyopathy Diagnosis

Genetics can play a major role in many of the diseases that we have. Some of us may have had parents with high blood pressure and heart disease, and as a result, we have it, too.

Other things can be a product of our environment and how we live our lives. For instance, if we live stressful lives — which most of us do — it makes us more susceptible to these diseases.

In my case, genetics played a significant role in my being diagnosed with dilated cardiomyopathy. Dilated cardiomyopathy is when the ventricles of the heart weaken and grow larger. This prevents the heart from pumping blood normally.¹

A family history of heart disease

Most of my dad’s side of the family has a form of heart disease. Many of my other family members died before they knew something was wrong with them. I had a young relative who died suddenly, possibly from heart failure. My cousin has hypertrophic cardiomyopathy, which is when the ventricles of the heart are thickened, making it harder for the heart to pump blood.¹

Thankfully, today, science has made advancements in the treatment of cardiovascular diseases, as well as different procedures to test for them. If it wasn’t for the chest X-ray or the echocardiogram I had, I wouldn’t have known I had dilated cardiomyopathy.

Diagnostic tests missed my enlarged heart

When I was in college, I ran track and field in the NCAA on a scholarship, and it’s a wonder that I was able to run all 4 years. In high school, I would always start wheezing when I ran long races, and my coaches thought it was asthma.

When I went to the doctor as a high school student and explained the symptoms I was having, they had me do an allergy test. The doctors prick your skin and introduce your skin to different allergens. The findings were that I was allergic to grass. The other part of the testing involved "blowing out candles" on a computer simulator, which I failed, so I was diagnosed with exercise-induced asthma.

The good news was I was able to finish running in high school and became a collegiate athlete. The bad new was, they missed the diagnosis of my enlarged heart. If they had investigated further, they would have seen it.

If I had known then what I know now...

After college, I started working for a law enforcement agency and had to get a physical done. They did a chest X-ray and noticed that my heart was enlarged, but my primary care doctors had never seen it. So, the agency told me that I had to get my doctor to sign off if it wasn’t a concern to them.

In all my years of going to the doctor’s office for my physicals, I’d never heard of having an enlarged heart, so my doctors signed off on it. If I had known what I know today, I would’ve asked my doctors to investigate it. Hindsight is 20/20.

Family members refusing testing

My cousin who has hypertrophic cardiomyopathy was diagnosed much younger than I was. She was playing soccer and went for an appointment. Her doctors told her that she couldn’t play any sports anymore because of her condition. Currently, she is doing well with medications and is tolerating them well.

Other people in my family refuse to get checked out because of fear and ignorance. My dad didn’t want to participate in the genetic testing for the same reason, even though it would’ve been so beneficial for us to know.

Genetics play a bigger role than we realize

I did genetic testing, and I was told that if I had a child, there was a 50 percent chance that if it was a girl, she would have cardiomyopathy. There was also a 50 percent chance that, if the child was a boy, he would have muscular dystrophy. I then had genetic testing done at a different hospital, and they told me that the previous findings were incorrect.

Either way, genetics play a bigger role in our health than we realize.