Dr. Link’s perspective: Why family matters for hypertrophic cardiomyopathy care
September 17, 2018
Patients are often their own best advocates when it comes to heart care, and that was the case for Sharon Leissner and her son, Jake. After a member of their family died at an early age from hypertrophic cardiomyopathy (HCM), a thickening of the heart muscle that possibly puts the individual at risk for sudden cardiac death, Sharon was sure both she and Jake had the same disease. And she didn’t stop until she found the answers they needed.
What is HCM?
HCM is the most common genetic heart condition. About one in 500 people in the U.S. have HCM, and children of a parent who has the disease have a 50 percent chance of developing HCM themselves. Only one parent has to have the genes involved with HCM for a child to be at risk of receiving the abnormal gene. In fact, when we diagnose HCM in one person, it’s common that someone else in the family also has the condition.
Some people with HCM go their whole lives without noticing any problems. Others experience a range of symptoms, including:
● Atrial fibrillation (AFib), a type of irregular heartbeat
● Cardiac arrest, which can lead to death or brain damage
● Chest pain or shortness of breath with exercise
● Fainting (syncope)
Related reading: Hypertrophic cardiomyopathy affects young and old
Lifesaving care for HCM
It can sometimes be difficult for doctors who don’t specialize in HCM to diagnose it. The condition might not show up right away on an echocardiogram if the heart muscle isn’t very thick. Before coming to UT Southwestern, Sharon and Jake saw many doctors who were unable to identify the source of their symptoms. So Sharon kept searching for someone who could help.
Finally, in 2010, both Sharon and Jake were diagnosed with HCM and received implantable cardioverter-defibrillators (ICDs). An ICD delivers electrical shocks to the heart if it detects a dangerously abnormal heartbeat, which allows the heart to re-establish a normal beat. Sharon and Jake were referred to me after their original cardiologist retired, and the timing was fortunate. Sharon received an ICD shock for ventricular fibrillation shortly before seeing me for the first time. And Jake had just been shocked inappropriately and diagnosed with a broken ICD lead; his device had been shut off. Jake’s lead and device were completely removed, and he received a subcutaneous ICD.
Then, in April 2017, both mother and son experienced cardiac events just two days apart. Each of them passed out while driving, and their ICDs shocked their hearts to stop the dangerously irregular heartbeats that had developed. Without the ICDs, it’s likely that neither would have survived. Both were managed with medical treatment to reduce the risk of future shocks.
It’s important for people with HCM to work with a cardiologist who is an expert in managing this disease. Even though HCM is relatively common, most cardiologists don’t treat it on a regular basis. Working with a cardiologist is a huge advantage because we’ve cared for hundreds of patients with HCM. UT Southwestern has been designated a Center of Excellence by the Hypertrophic Cardiomyopathy Association (HCMA). We’re one of fewer than 30 such centers across the country, and we were the first North Texas center to receive this recognition. We routinely treat patients with HCM from throughout North Texas, Oklahoma, and Arkansas.
Today, Sharon and Jake live full, normal lives despite their HCM. I’m looking forward to caring for them for decades to come.
To find out whether you or a loved one should be screened for hypertrophic cardiomyopathy, call 214-645-8300 or request an appointment online.
If you would like to learn more about HCM please register for our upcoming patient conference.