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The Latest Research Advances in Hypertrophic Cardiomyopathy

Medically reviewed by Dr. Payal Kohli, M.D., FACC — By Ashley Zlatopolsky on October 4, 2022Hypertrophic 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, especially after exerciseshortness of breath, especially after exercisefatiguearrhythmias, which are atypical heart rhythmsdizziness, especially with exerciselightheadednessepisodes of faintingankle, foot, leg, or abdomen swelling 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. Advanced stages of HCM can also lead to heart failure, and in rare cases, sudden cardiac arrest. 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 and hypertrophic cardiomyopathy

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.

Testing and monitoring

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.

Myosin inhibitors for hypertrophic cardiomyopathy treatment

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 recommendations

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, poultry without skin, fish, beans, and fat-free dairy. 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.

Hypertrophic cardiomyopathy management

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 pressurebeta-blockers and calcium channel blockers to slow heart rateanti-arrhythmics, such as disopyramide, to prevent arrhythmiasaldosterone-blockers to balance electrolytesdiuretics, commonly known as water pills, to remove excess fluid and sodium from the bodyanticoagulants, or blood thinners, to prevent blood clotscorticosteroids 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.

Takeaway

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. Last medically reviewed on October 4, 2022

How we vetted this article

SourcesHistoryHealthline has strict sourcing guidelines and relies on peer-reviewed studies, academic research institutions, and medical associations. We avoid using tertiary references. You can learn more about how we ensure our content is accurate and current by reading our editorial policy.Chuang C, et al. (2021). Discovery of aficamten (CK-274), a next-generation cardiac myosin inhibitor for the treatment of hypertrophic cardiomyopathy.
pubs.acs.org/doi/10.1021/acs.jmedchem.1c01290Ho CY, et al. (2020). Evaluation of mavacamten in symptomatic patients with nonobstructive hypertrophic cardiomyopathy.
sciencedirect.com/science/article/pii/S0735109720348567?via%3DihubHypertrophic cardiomyopathy. (2022).
heart.org/en/health-topics/cardiomyopathy/what-is-cardiomyopathy-in-adults/hypertrophic-cardiomyopathyMazzarotto F, et al. (2020). Contemporary insights into the genetics of hypertrophic cardiomyopathy.
ahajournals.org/doi/10.1161/JAHA.119.015473Ommen SR, et al. (2020). 2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy.
ahajournals.org/doi/10.1161/CIR.0000000000000937Prevention and treatment of cardiomyopathy. (2022).
heart.org/en/health-topics/cardiomyopathy/prevention-and-treatment-of-cardiomyopathySpertus JA, et al. (2021). Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): Health status analysis of a randomised, double-blind, placebo-controlled, phase 3 trial.
thelancet.com/journals/lancet/article/PIIS0140-6736(21)00763-7/fulltextOur experts continually monitor the health and wellness space, and we update our articles when new information becomes available. Current Version Oct 4, 2022 By Ashley Zlatopolsky Edited By Erin McGuinness Medically Reviewed By Payal Kohli, MD Copy Edited By Sofia Santamarina Share this articleMedically reviewed by Dr. Payal Kohli, M.D., FACC — By Ashley Zlatopolsky on October 4, 2022

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