February is American Heart Month. The last Wednesday of every February is Hypertrophic Cardiomyopathy Awareness Day, a day and cause near and dear to my big heart. The mission is to bring attention to a genetic heart condition that many don’t even know they have until tragedy strikes a family. It is in the news when a healthy young athlete dies suddenly during a sporting event, often the underlying condition is found to be HCM. One in 250-500 people have HCM. An alarming 23,000 children in the U.S. experience cardiac arrest annually, many occurring outside the hospital without any knowledge that they have an underlying cardiac problem.
HCM is the most common cause of sudden cardiac death in young people under age 35. It causes an abnormal thickening of the heart muscle, usually the left ventricle making it stiff. It can cause a range of no symptoms to chest pain, shortness of breath, dizziness, fatigue, passing out, fluid retention, palpitations, exercise intolerance, arrhythmias and cardiac arrest. The thickening limits the heart’s ability to relax, contract and do its job pumping blood.
For many, many years, the cause of HCM was not known. Often, the shared symptoms of many other conditions led to misdiagnosis. Unless there is a known family history, it may be difficult to pinpoint the cause of the symptoms. Over the last 40 years since the genetic mutation was discovered, diagnosing and raising awareness have improved.
Patients have been misdiagnosed with asthma with symptoms of shortness of breath, especially while exercising, anxiety/panic attacks with symptoms of heart racing or skipping beats and depression with symptoms of fatigue. People with HCM often have a heart murmur or other abnormal heart sounds and are told it is simply a benign murmur.
If a parent has a gene mutation for HCM, then their child has a 50% chance of inheriting that mutation. You can be diagnosed or develop symptoms at any age. It is more common for symptoms or heart changes to occur in late teens or early twenties.
Proper diagnosis requires an electrocardiogram, echocardiogram, MRI, stress test, and/or stress echo and Holter or event monitor. Other more invasive tests may also be done. Genetic testing is an excellent and definitive diagnostic tool. An ECG alone is not adequate screening.
Treatment consists of medication, lifestyle management, sometimes surgery, defibrillator implantation, and in extremely severe cases, a heart transplant may be necessary. The best care is at a facility that has a specialty in HCM.
As part of recognizing heart health, the Hypertrophic Cardiomyopathy Association is attempting to educate people about the Children’s Cardiac Safety Act legislation. The act requires simple questions as part of a child’s yearly well-check and sports physicals. Questions should include family heart health history and screening for heart disorders in all students and athletes up to age 19 to save lives. The act has many more provisions to identify children at risk.
The HEARTS Act of 2024 (Cardiomyopathy Health Education, Awareness, Research and Training in Schools) was signed into law and mandates some cardiac safety in schools. It requires emergency response plans, including CPR/AED training and AED access. Massachusetts passed “Michael’s Law,” which mandates schools to have an emergency response plan. Some states have a higher level of advocacy and laws than others. The HCM and American Heart Association presented a legislative briefing in Massachusetts and some other states earlier this month providing education, information and guidance.
My son and I have been involved previously in some HCM-related activities with our esteemed cardiologist, Dr. Christine Seidman, involving her research. We participated in an international meeting. We have just been asked to participate in an FDA patient-focused meeting to better understand the impact of genetic cardiomyopathies. This is an excellent opportunity to have our voices heard by the FDA.
It is recommended that CPR become part of high school curriculums. Teachers, coaches, or anyone involved in youth sports, recreational programs or schools should be CPR and AED trained. Or as the HCM says, “anywhere hearts gather.” Facilities where people congregate should have an AED. The HCM Association has extensive and varied resources for patients, their families, schools, businesses and the community at 4hcm.org.
If you are a health care provider in primary care, pediatrics, urgent care, or emergency departments, educate yourself and be keenly aware of screening and assessing your patients for HCM and other cardiac disorders.
Be aware of your heart health and your family’s. Whether an athlete or not, all should have screenings for HCM. Be an advocate for CPR and AEDs in your work, schools and community gathering places. Contact your representatives to support legislation. HCM is manageable for most. But knowing you have it is the first step to potentially saving your life or your child’s and preventing other adverse health issues.
My passion and advocacy for HCM arises from my own and my family’s struggles with this disease. Heart disease is not just heart attacks and coronary artery disease. It is not just found in the elderly; it is all ages. It is invisible and silent unless shared. We stand there looking healthy and go about life. Thankfully, we are cared for by excellent HCM specialists, knowledgeable about our disease and face it head-on.
“Courage, dear heart.” -C.S. Lewis
Take care of yourself and someone else.
Juanita Carnes is a nurse practitioner with 39 years of experience in a hospital emergency department and urgent care facilities. She served 30 years on the Board of Health in Westfield, Massachusetts.
