Study: Families of Black patients at higher risk of developing inherited heart muscle disease

Dilated cardiomyopathy (DCM) is a disease of the heart muscle and is one of the leading causes of heart failure.

A recent study led by Ohio State researchers suggests Black patients diagnosed with the disease are more likely than white patients to have family members at risk for the condition.

Thirty-four-year-old Sharon Starks of Trotwood, Ohio, said her journey with dilated cardiomyopathy began about five months after the birth of her son, Jeremiah, in 2013.

“Every time I tried to lay down, I couldn't breathe," Starks said. "You can hear the fluid in my chest and I thought maybe it's pneumonia.”

Doctors placed Sharon on antibiotics, but her condition continued to deteriorate.

Eventually, she wound up in the hospital where doctors told Starks her heart was pumping at just 15 percent capacity.

“I was like, Oh, this can't be happening. Like, you know, I need to get home I have to take care of my son," she said.

Dr. Ray Hershberger is a professor of medicine in cardiology and human genetics at Ohio State. Hershberger is the senior author of a massive, five-year study looking at the issue.

“From studies in the 1990s and 2000s, we realized that there were at least 15 to 20 genes that are relevant for dilated cardiomyopathy," Hershberger said.

The first question researchers sought to answer was: If someone is diagnosed with DCM, what are the chances that it runs in the family?

Using mathematical modeling techniques, researchers estimated that 30% of patients with DCM seen at a typical advanced heart failure program in the U.S. had at least one first-degree family member (child, sibling, or parent) with DCM.

"That number of basically right at 30% suggests that if anybody walking through the door with idiopathic dilated cardiomyopathy, there's almost a one in three chance that one of their family members will have dilated cardiomyopathy. It's incredibly important for people to know," Dr. Hershberger said.

The study, published last month in the Journal of the American Medical Association, also found worrisome trends for patients like Sharon Starks, who is Black.

When broken down by self-identified race, an estimated 39% of Black patients and 28% of white patients had at least one first-degree family member with DCM.

It turns out, Starks' family has a history of heart conditions. Her mother was diagnosed with coronary heart disease at age 44, and her maternal grandmother died at age 29 of a massive heart attack.

"Even though my grandmother was young, I didn't know too much about that incident. We never really talked about it," Starks said.

Starks hopes her story leads African American families to start having more conversations about their health.

“It’s taboo in African American communities and families, and we don't necessarily always go and get those things checked out. We may feel something, but we take care of everyone else except for ourselves," she said.

Greg Ruf, 57, of Dublin, underwent a heart transplant last July after being diagnosed with DCM in 2014.

Ruf and Dr. Hershberger have since started a foundation to raise awareness about the disease. Nine of his family members have been identified with gene mutations known to cause DCM. Ruf said anyone with a family history should get screened.

"The work that I'm doing now with the foundation really is very self-serving I think, because I'm trying to save my family. I don't want them to go through what I went through," Ruf said.

More information is available at the DCM Foundation website.

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