How Science is Mending Broken Hearts

New tech for testing and treating cardiomyopathy

Have you ever heard of someone passing away from a “broken heart”?

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You may have thought it was a myth. But there actually is a medical condition called takotsubo cardiomyopathy, a disease of the heart muscle brought on by extreme stress. Takotsubo often goes by the name “broken heart syndrome.”

Cardiomyopathies (Greek for “affliction of the heart”) are a group of diseases caused by weak heart muscles. They are one of the leading causes of heart failure and heart transplants in the United States. They can lead to dangerous heart rhythms and sudden death — especially troubling in young competitive athletes who may not know they have a heart condition until it is too late.

With takotsubo cardiomyopathy, stress is the cause. But other cardiomyopathies come with varied causes: genetics, coronary artery disease, viral infections, toxins like alcohol and chemotherapy drugs, and even pregnancy. The symptoms tend to be subtle. They may not raise red flags in otherwise healthy patients. Too often, cardiomyopathy goes undetected.

Researchers aim to change that.

“Getting an earlier diagnosis matters only if physicians and patients can act on it. The next step: reducing the burden on the heart through medication, dietary changes and stress relief.”

Paul DiCorleto

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Paul DiCorleto, PhD

Lerner Research Institute

Early warning systems

W.H. Wilson Tang, MD, a physician-scientist who heads Cleveland Clinic’s cardiomyopathy program and Center for Clinical Genomics, points to rapid advancements in genetics research and imaging technology as reasons to be hopeful. If physicians can detect cardiomyopathies earlier, they can manage the conditions better.

Take dilated cardiomyopathy, for example. It’s the most common form of cardiomyopathy, and new techniques have allowed researchers to find more than 30 genes that affect it. In a landmark 2012 study, Harvard researchers found that mutations in the enormous titin gene are responsible for a quarter of cases. Their 2015 follow-up study confirmed their results in more than 5,000 patients. It also shed light on how the mutations lead to disease.

Dr. Tang adds that improvements in cardiac MRI and other specialized imaging techniques have led to increased diagnoses. So has increased physician awareness. That’s true for both more common and rare cases. Researchers are also actively developing new ways of detecting underlying heart abnormalities, including breath testing and unique blood tests.

Acting on a diagnosis

Getting an earlier diagnosis matters only if physicians and patients can act on it. The next step: reducing the burden on the heart through medication, dietary changes and stress relief.

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Researchers are improving how doctors manage the disease, too. For example, Cleveland Clinic’s Christine Moravec, PhD, and Michael G. McKee, PhD, have developed tools to help patients monitor and gain control of their own body processes, such as temperature, heart rate, sweating and blood pressure. In a small pilot study of these biofeedback techniques, 8 of 10 advanced heart failure patients showed some degree of recovery — not just in symptom relief, but also at the cellular and molecular level, the core of the disease.

New drugs are emerging for specific cardiomyopathies, too. For example, a team led by Mazen Hanna, MD, is participating in late-stage clinical trials for two new drugs to treat a rare form of cardiomyopathy called transthyretin amyloidosis.

Patients with more advanced disease require more intensive therapies. For a long time, heart transplantation was considered a patient’s best option. Even today, about half of the heart transplants in the United States are performed on individuals with a cardiomyopathy. However, devices such as left ventricular assist devices (LVADs) — which help the heart pump blood throughout the body — and artificial hearts offer viable alternatives to heart transplant.

To overcome the limitations of older artificial hearts, a team of biomedical engineers in the Lerner Research Institute led by Kiyo Fukamachi, MD, PhD, has developed a unique total artificial heart. Their total artificial heart operates silently, is small enough to fit women and teenagers, and contains only one moving part. It has been successful in preclinical studies and is progressing toward future human testing.

Researchers continue to push the limits of technology, both for testing and treatment. As we continue to get a clearer picture of the processes that drive cardiomyopathy, we also get better at healing ailing hearts.

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Paul DiCorleto, PhD

As Chair of the Lerner Research Institute, Paul DiCorleto, PhD, oversees all laboratory and clinical research at Cleveland Clinic. He is an expert in cardiovascular biology.