Hypertrophic cardiomyopathy (HCM) is a chronic genetic condition that causes the heart muscle to be thick, making it harder for your body to pump blood. People often may not detect it, and atypical genes in the heart muscle cause it.

Most people with HCM have little to no symptoms in the early stages of the disease. Over time, symptoms can include chest pain, fatigue, and more.

Getting an early diagnosis can help lower the risk of potential complications like atrial fibrillation, which can lead to blood clots, stroke, and other heart-related conditions. New research helps advance treatment and management for HCM while helping lower these risks. If you have the condition, here is everything to know about the latest advances in research.

Genetics can play a key role in the development of HCM.

Being aware of your family history, especially related to heart conditions, is important. If family members have HCM, you may want to consider genetic testing. Genetic testing can help determine if you carry genes that increase your risk of developing the disease.

Recent advances in research on the genetics of HCM allow more precise and accurate diagnoses. Population genetic databases, for example, increase the understanding of how the disease can affect certain groups, which helps personalize treatment options.

Collaborative models of data sharing, in addition to guidelines for interpretation, improve knowledge of genetic diseases like HCM.

While genetic screening can determine your risk level, there are many other ways to test for the disease.

The most common form of diagnosis is by echocardiogram, which checks the thickness of the heart muscle and blood flow through the heart. Expert guidelines on the diagnosis and treatment of people with HCM suggest using an echocardiogram as the primary form of imaging for most people with the condition.

Doctors can also use MRIs and stress tests to diagnose HCM. Some people may also wear a Holter or event monitor to detect atypical heart rhythms.

In certain cases, doctors can use a more advanced form of echocardiogram known as transesophageal echo. In this procedure, a doctor inserts a probe into the throat while the patient is under sedation.

Doctors tend to consider a transesophageal echo when there is uncertainty about structural differences, or if there is suspicion of an alternate cause of obstruction.

Experts are developing myosin inhibitors, a new class of medication for people with hypertrophic cardiomyopathy.

As the first drugs to treat HCM, it’s one of the most important research advances for the disease.

Doctors typically use myosin inhibitors for obstructive HCM. However, one 2020 study showed their effect on non-obstructive forms of the disease.

The study above using mavacamten (Camzyos), a new myosin inhibitor, showed 53% improvement in heart wall stress for people with non-obstructive hypertrophic cardiomyopathy. Participants also tolerated the drug well.

Experts need to perform more research to determine proper mavacamten dosing. One 2021 study showed that people with HCM tolerated mavacamten well and their health statuses improved.

Experts are also studying another new myosin inhibitor called aficamten. A different 2021 study suggested the drug can counteract obstruction due to HCM, but experts need to perform more research on the drug to confirm its effects.

Lifestyle changes are essential to managing HCM.

The latest recommendations include eating a balanced diet with a variety of fruits, vegetables, and grains, with half of the grains coming from whole-grain products.

Doctors encourage people with HCM to eat foods low in saturated and trans fat, opting for lean meats, fish, fat-free dairy, beans, and poultry with the skin removed.

Experts recommend low sodium intake to maintain blood pressure. They also suggest choosing foods and beverages low in added sugar and to avoid drinking alcohol. It’s a good idea for those who choose to drink alcohol to do so in moderation.

Healthcare professionals recommend maintaining a moderate weight and exercising regularly, but it’s important to speak with your doctor first if you take medications, have an ongoing health condition, or experience certain symptoms, like chest pain, shortness of breath, or dizziness.

They also recommend quitting smoking if possible, getting enough sleep and rest, reducing stress, and treating any underlying conditions, such as diabetes or high blood pressure.

In addition to lifestyle changes, you can also manage hypertrophic cardiomyopathy through medication. A variety of medications may improve outcomes, such as:

  • angiotensin-converting enzyme inhibitors or calcium channel blockers to lower blood pressure
  • beta-blockers and calcium channel blockers to slow heart rate
  • anti-arrhythmics, such as disopyramide, to prevent arrhythmias
  • aldosterone-blockers to balance electrolytes
  • diuretics, commonly known as water pills, to remove excess fluid and sodium from the body
  • anticoagulants, or blood thinners, to prevent blood clots
  • corticosteroids to reduce inflammation

Surgical and minimally invasive procedures can treat cardiomyopathy. Experts may consider open-heart surgery for people with obstructive forms of the disease. Healthcare professionals can also inject alcohol into a heart muscle artery to shrink thick tissue.

Pacemakers, among other surgically-implantable devices, can also help the heart work better. Some individuals may need defibrillators. In extreme cases, a heart transplant may be a last resort for people with end-stage heart failure, which means other treatments may be ineffective for them.

Research advances in HCM help discover new treatment options for people with the disease. These advances help experts identify drugs that have fewer side effects, lower the risk for complications, and are well-tolerated among people with HCM.

A combination of lifestyle changes and medications can help people manage HCM. As research continues, new and improved ways to manage and treat the condition can result in better outcomes and quality of life.