Genetic testing reveals hereditary heart disease

Current testing helps connect family members with shared diagnosis

Genetic testing reveals hereditary heart disease

After his mother died, Eric Dimmer wondered about the hereditary heart disease she had been diagnosed with — hypertrophic cardiomyopathy (HCM). He made an appointment to visit his doctor.

His physician listened to his heart, hearing a murmur that Dimmer didn’t know was there. That same day he received a diagnostic ultrasound of his heart, which revealed abnormal muscle thickness. This discovery led to further testing and Dimmer was diagnosed with HCM.

Armed with this diagnosis, he met with a cardiologist at Sanford Heart who outlined his treatment options, which included an implantable cardioverter defibrillator (ICD). An ICD functions similar to a pacemaker, sending low-energy or high-energy shocks that can reset a heart.

After choosing ICD implantation as a safeguard to protect his heart, Dimmer turned his attention to the next generation.

Focusing on family heart disease

His daughters, Dimmer knew, could have inherited HCM. He wanted to know more and met with Sanford Heart’s certified genetic counselor, Kristen DeBerg.

“If we knew the specific gene that gave me this condition, I was thinking it’d be a lot simpler to test my family,” Dimmer said. “And that’s when everything snowballed.”

He distinctly remembers the phone call from DeBerg with his genetic testing results.

“I was sitting there at work and I was worried. I didn’t know what to expect,” Dimmer said. “She said there could be an unknown variant. Something I have that’s the reason for my heart being the way that it is. And then she said, we think that it’s Fabry disease. I didn’t know anything about it at the time.”

Fabry disease is an inherited disorder resulting from the buildup of a particular type of fat in the body’s cells. Even in childhood, this buildup starts to cause symptoms that affect many different parts of the body.

DeBerg asked Dimmer if he had ever experienced burning in his hands or feet? Did he have any issues with sweating?

‘All my answers were yes’

“All my answers were yes,” he said. “Yeah, yeah, yeah, I’ve had those. I’ve had that.”

After another test to confirm, Dimmer was officially diagnosed. Treating Fabry disease involves regular enzyme replacement therapy. This helps the body produce less of the fatty substance that can build up in kidney, heart or skin cells.

“I go every other week and my infusions take four hours,” Dimmer said. “The treatment has stopped both my heart from getting thicker and my kidneys from getting worse.”

His diagnosis could reach across his family tree, potentially affecting his children and siblings, as well as other relatives. His sister has also been diagnosed with Fabry disease, and Dimmer contacted his mother’s siblings.

“We reached out to our extended family about the importance of getting tested because they all have children,” Dimmer said. “It’s important, if you have a condition like this, to reach out to others.”

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Posted In Genetics, Health Information, Heart