Eight new unique gene mutations in patients with hereditable heart muscle disease

ScienceDaily | 3/18/2019 | Staff
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For at least 40 percent of these patients, the disease has an underlying genetic cause that leads to the muscle in the major pumping chamber of the heart (left ventricle) being too weak and thin to function properly, causing heart failure.

"Although many mutations contributing to non-ischemic dilated cardiomyopathy have been identified, there remains a large gap in our knowledge of its heritability. The more we can learn about what's causing the condition, the better we can identify and treat it," said Jeffrey L. Anderson, MD, principal investigator of the study and a researcher at the Intermountain Healthcare Heart Institute. "If it's passed on in families, we'll be able to identify those who might be at risk for developing heart disease and work to prevent it, diagnose it, and begin treatment earlier."

Findings - Study - American - College - Cardiology

Findings from the study will be presented at the American College of Cardiology's Annual Scientific Session in New Orleans on March 18, 2019.

A quarter to one-third of idiopathic dilated cardiomyopathy patients will need a mechanical support device, a heart transplant, or will die within five years, Dr. Anderson noted, so this is a very serious condition.

Study - Researchers - Samples - Patients - Cardiomyopathy

In the study, researchers looked at genetic samples of 231 patients with idiopathic dilated cardiomyopathy, evaluated in an Intermountain Medical Center Specialty Clinic who volunteered to enter blood samples into the Intermountain Healthcare INSPIRE Registry and DNA Bank, which is the system's collection of biological samples, clinical information, and laboratory data from consenting patients who are diagnosed with any of a number...
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