DNA analysis is used to diagnose subtypes of heart disease

This computer-enhanced image shows the tightly packed structure of the interacting strands of chromatin—DNA

The human heart is a complex organ, and like a car that starts sputtering, its function deteriorates

Nikhil Munshi, MD, Ph.

Now, an interdisciplinary team of clinicians and researchers at the University of Texas Southwestern has demonstrated that certain subtypes of cardiomyopathy can be accurately diagnosed by analyzing how DNA molecules within heart cells are organized into chromatin (the dense packaging structure of DNA

"Being able to better diagnose cardiomyopathy is important not only for guiding treatment, but also for informing patients about the prognosis," said cardiologist Nikhil Munshi, an associate professor of internal medicine at the University of Texas' Southwestern School of Medicine and co-senior author

When someone develops symptoms of heart disease, such as shortness of breath, dizziness, or swelling of their legs and feet, doctors often use tools such as echocardiography to analyze their heart to gauge how well the heart muscles and valves are working

However, in about a quarter of the cases, cardiologists cannot determine any specific underlying cause of

Dr.

They used machine learning methods to analyze thousands of chromatin slices in each patient's cells and find out the differences between patients with three subtypes of cardiomyopathy — hypertrophic cardiomyopathy (caused by thickening of the left ventricular wall), ischemic cardiomyopathy (caused by coronary artery blockage), and non-ischemic cardiomyopathy (caused by enlarged left ventricles without underlying structural changes).

"Chromatin is like a very unique fingerprint of a cellular state, which is a principled proof-of-principle study that shows that we can indeed train an algorithm to distinguish between these fingerprints

To test the effectiveness of the project, the researchers used it for three new patient samples that were not included in the original samples

Because cardiac biopsy is not currently the standard treatment for patients with cardiomyopathy, there is currently no direct way

"Heart biopsies have become very safe, so if we can show that there's a really good reason to start doing more routine biopsies to guide treatment, they may become more routine," Dr.