When Holly Ingalls’ young daughter developed a skin rash that kept spreading, she took her to the Spectrum Health Gerber Memorial Visiting Specialist Clinic near their Hesperia, Michigan, home.
Because the toddler seemed scared of the stethoscope, Spectrum Health physician assistant Rebecca Guenthardt, PA-C, demonstrated how it works by placing it on mommy’s heart first.
“That’s when I heard the heart murmur,” Guenthardt said. “I just knew it didn’t sound right.”
That sudden discovery shocked Ingalls, 25.
At Guenthardt’s recommendation, Ingalls scheduled an appointment with her primary care doctor. Her doctor quickly referred her for testing.
In December 2018, Ingalls learned the diagnosis: hypertrophic cardiomyopathy.
The symptoms are sneaky.
Shortness of breath. Lightheadedness. Heart palpitations.
Adults who experience these problems often blame it on fatigue or being out of shape. It’s sometimes even mistaken for anxiety or asthma.
But a misdiagnosis can be tragic. The disease can cause cardiac arrest or stroke.
Young athletes who experience serious heart trouble as a result of hypertrophic cardiomyopathy sometimes make local or national news headlines when the disease causes them to collapse suddenly on the field during a game or practice session.
“It can affect anybody, at any age,” said cardiologist David Fermin, MD, FACC, FHFSA, director of the Spectrum Health Hypertrophic Cardiomyopathy Program.
For Ingalls, everything lined up.
Her daughter’s fear of the stethoscope prompted Guenthardt to use Ingalls as a stand-in—which led to the discovery of the heart murmur.
‘If I had known’
As a busy single mom, Ingalls noticed occasional signs that something might be amiss. Even so, she didn’t worry much about a little shortness of breath, some vision problems or feeling lightheaded or fainting.
Of course, now she knows better.
“If I had known that I could have died from it, I would have had it checked out sooner,” she said.
Hypertrophic cardiomyopathy makes the heart muscle grow thick, obstructing the flow of blood from the heart. It can cause electrical heart problems, leading to heart arrhythmia, stroke or cardiac arrest.
The vast majority of patients can manage their condition with heart medication or an implantable cardioverter-defibrillator.
But others may eventually need open heart surgery to remove the extra heart muscle and improve blood flow.
Hypertrophic cardiomyopathy is a genetic condition. It sometimes doesn’t show up on a heart scan, according to Dr. Fermin, which is why Ingalls’ parents opted to get genetic testing.
Her father, unknowingly, also had it.
While the disease can be treated but not cured, there is cause for much optimism about future treatments.
“Having a strong team allows us to be at the forefront of the technology, so we can offer those kinds of treatments to our patients,” Dr. Fermin said. “But ideally the path to diagnosis starts when primary care providers notice murmurs, symptoms or family history that lead to further evaluation.”
Back on track
For Ingalls, the diagnosis has taught her to focus on self-care.
She recently started a new job. Her daughter Rebecca, 3, attends the local FiveCAP Head Start program. When they have time, Ingalls takes her to play in the park with their German shepherd, Sadie. They fish in a pond behind their home and they ride horses at a local stable.
Ingalls can exercise, but she has to pace herself.
“If I can’t talk, I need to sit down and take a break,” she said.
Thinking back, she’s particularly grateful to Guenthardt for noticing her heart murmur that day.
“I appreciate that she ended up finding it,” she said.