Scientists find how to diagnose subtypes of heart disease

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Cardiomyopathy refers to problems with your heart muscle that can make it harder for your heart to pump blood.

There are many types of cardiomyopathy, and it can affect people of all ages.

The disease can be caused by blockages, thickened muscles, or enlarged heart chambers, among other things.

For clinicians, differentiating and properly diagnosing these types of diseases can be difficult.

In a study from UT Southwestern, scientists used DNA analysis to diagnose cardiomyopathy.

They showed that some subtypes of cardiomyopathy can accurately be diagnosed by analyzing how molecules of DNA inside heart cells are organized into chromatin—the densely packaged structure of DNA.

Changes to chromatin impact which genes are active in a cell and therefore can affect heart function.

In the study, the team analyzed cells from the left ventricles of 15 patients with cardiomyopathy as well as six healthy individuals.

Since heart biopsies are not routinely performed for cardiomyopathy, the researchers used samples taken from patients undergoing heart transplants or myectomies (surgical removal of muscle tissue) and from healthy donor hearts.

They used a machine-learning approach to analyze thousands of sections of chromatin in each patient’s cells and pinpoint what differed between patients with three subtypes of cardiomyopathy—hypertrophic cardiomyopathy (caused by thickening of the left ventricle walls), ischemic cardiomyopathy (caused by blockages in coronary arteries), and non-ischemic cardiomyopathy (caused by an enlarged left ventricle without underlying structural changes).

The machine-learning program was able to recognize different signatures of the chromatin in each patient group.

To test the effectiveness of the program, the researchers used it on three new patient samples that hadn’t been included in the original sample.

The program correctly identified the type of cardiomyopathy of each patient and showed that the chromatin patterns changed after treatment for cardiomyopathy.

The researchers said that since heart biopsies are not currently the standard of care for cardiomyopathy patients, there is no immediate path toward using the new data in the clinic.

However, if chromatin patterns enable a drastically improved diagnosis of cardiomyopathy, it may encourage the use of biopsies.

If you care about heart health, please read studies about the best time to take vitamins to prevent heart disease, and calcium supplements could harm your heart health.

For more information about heart health, please see recent studies about chronic itch linked to heart disease, and flu, COVID-19, and related vaccines may increase heart disease risk.

The study was conducted by Nikhil Munshi et al and published in Circulation.

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