Fight Back Against Inherited Sudden-Death Heart Condition

Both sides of Catherine Gray's family tree hang heavy with heart problems, going back at least two generations. So when her heart started acting up soon after she hit age 50, Catherine got nervous.

A careful heart exam showed the root of her problems - and perhaps those of others in her family tree. She has a genetic condition called hypertrophic cardiomyopathy, or HCM, which causes her heart muscle to grow too thick. The extra muscle blocked blood flow out of her heart when she was active, and made her short of breath just from walking in the mall.

As many as one in every 500 Americans has HCM and many do not know they have it. HCM is an inherited, or genetic, condition that affects 50 percent of the children of people who suffer from it. And although most people with HCM genes won't develop problems as severe as Catherine's, it's the most common cause of sudden death in young individuals - and can suddenly kill people who may have no symptoms at all.

Now, a combination of better diagnosis, treatment and genetic testing is starting to help people with HCM, and their families, fight back against their inherited risk. People who have a family history of sudden heart-related deaths, or a relative with a diagnosis of HCM, can get a clearer picture of the risks that they and their children face. And that can help shape both treatment and preventive steps.

After her diagnosis, Catherine first got help from a combination of medications prescribed by her doctor in Flint, Mich. He also monitored her heart regularly using ultrasound. But as her condition got worse, she headed to the University of Michigan Cardiovascular Center for more aggressive treatment.

After a minimally invasive procedure that used an injection of alcohol to reduce the amount of extra muscle in her heart, she feels like a new woman. Before, she says, "I was afraid my heart may stop all together. And I was just really, really miserable," with a constant feeling like someone was choking her. But, she continues, "After the procedure, it was like someone released me. The pressure was gone. Whatever had me around the throat was gone. I have a new lease on life."

Catherine's story is proof that proper care can give HCM patients a chance at better quality of life and peace of mind, says Sharlene Day, M.D., who directs the U-M's HCM Clinic, one of only seven specialized programs for HCM patients in the nation. It brings together heart and genetic specialists who treat both adults and children.

But getting diagnosed is still a challenge, says Day, an assistant professor of cardiovascular medicine at the U-M Medical School.

"Because so many people with HCM may not know they have it because they don't experience symptoms, it can often be difficult to make the diagnosis," she explains. "Many individuals don't experience symptoms early on, but may develop them later in life."