A new report by the Alliance for Patient Access highlights an increasing concern for patients with hypertrophic cardiomyopathy (HCM), a genetic disease that causes the heart muscle to thicken, making it harder for the heart to pump blood. For one in 250 people affected by this condition, obtaining treatment can be a significant challenge.
CALÓ News spoke with Dr. Srihari S. Naidu, a board-certified internal medicine specialist. His experience in alcohol septal ablation and a minimally invasive alternative to open-heart surgery draws patients from across the country for this specialized care.
Raising awareness about hypertrophic cardiomyopathy is crucial to Dr. Naidu because unlike other diseases this one is very tough to identify. “It allows people to have it on the radar screen if something suspicious happens. It was previously thought to be a rare disease. It was not diagnosed many, many times,” said Dr. Naidu. “Most patients that I’ve seen with hypertrophic cardiomyopathy have seen a cardiologist over the years, and none of them diagnosed them with this disease. And that’s 100% because they didn’t think that it was hypertrophic cardiomyopathy.”
Individuals with this condition experience a progressive thickening of the heart, which can lead to a reduction in its size. They are also at increased risk for arrhythmias, which, in some cases, can result in sudden cardiac death or strokes, particularly among children and young adults.
As individuals age, they may develop different stages of heart failure, where the heart becomes less effective at pumping blood. This leads to increased shortness of breath, and in the later stages, fluid buildup and congestion can occur, which are all severe symptoms of advanced heart failure.
“That’s what hypertrophic cardiomyopathy is and because it goes through your entire life it can be very mild and it can later progress. But our job is to try to recognize these people with this disease and try to manage them and prevent some of the worst progressions,” he said.
According to the report, an estimated 700,000 adults in the United States have HCM. Due to a lack of awareness and challenges, 85% remain undiagnosed and may be at significant risk. Patients may also experience symptoms such as fainting, fatigue, dizziness, chest pain, palpitations and lightheadedness.
“About 1 in 300 people may have hypertrophic cardiomyopathy genetically. And so it’s the same across all races, across the world and between both genders. The rate is the same, so there are no racial differences in terms of developing hypertrophic cardiomyopathy,” Dr. Naidu said. “everybody should be aware of it because it can happen young and it can happen middle age and it can happen old, you’re never sort of immune to it. You may not have it early in life, and it may develop later.”
Among patients who are diagnosed with HCM, more than one-third require at least one hospitalization within the first year of diagnosis. Treatment can help reduce the risk of hospitalization, minimize symptoms and improve health outcomes.
However, while these treatments can be life-changing, patients can’t always access them.The most common avenue of treatment for HCM is medication. Prescription drugs, including beta blockers, blood thinners, anti-arrhythmic medications and calcium channel blockers, reduce the risks of symptoms such as blood clots and strokes.
Cardiac Myosin Inhibitors is another option for treatment. It directly treats the cause of the disease instead of its symptoms. Mavacamten, a type of medication known as a cardiac myosin inhibitor, was approved by the FDA in 2022 to treat the obstructive form of HCM. These oral treatments strengthen blood flow from the heart by relaxing the heart’s contractions.
Another option is surgical or catheter-based procedures, such as removing or ablating portions of the thickened heart muscle or implanting devices like pacemakers, which can address HCM. Unfortunately, not everyone can access these health treatments because of the health plan barriers that are blocking access to essential care. Some of these obstacles like authorizations, step therapy, and treatment delays are leaving patients struggling with with this serious heart condition.
“Innovative options have opened up care for patients with hypertrophic cardiomyopathy. But this treatment can have a meaningful impact only if patients can access it,” said Josie Cooper, executive director of the Alliance for Patient Access.
Dr. Naidu said that getting patients the right treatment can be challenging for the following reasons. One of them is that many doctors are still not aware, trained, or educated on the condition. The second reason is that the vast majority of doctors have no experience in how to treat the disease. “For the last 10 years, we have been trying heavily to train cardiologists to treat this disease,” said Dr. Naidu. “One might think that if you’re a heart doctor, you would know how to treat every heart condition, but that is not the case. Within cardiology, you train in the most common things and because it was completely misrecognized during training they never learned about it. Now they’re learning a lot more, so you have the vast majority of cardiologists out there who now know that it’s common but never were trained fully on how to take care of these patients.”
Another obstacle HCM patients and care providers struggle with is tackling the insurance companies to make sure that they can get the different treatments and authorizations that are needed to treat the disease. “The insurance companies also have not been trained to take care of these patients and authorize these types of treatments. So we then have to fight the insurance companies on everything to ensure they get the echocardiograms at the early age, which, as you can imagine most insurance companies want to see that somebody is very sick before they order a test,” Dr. Naidu said.
He also said that most patients who want to do screening tests for HCM oftentimes get denied by insurance companies. Although Dr. Naidu and other health experts are raising awareness on the disease many patients are left struggling to find the right diagnosis and the right treatment to fight for authorizations from their health plans.