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Genetic Testing Can Identify Patients with Inherited Risk of Cardiomyopathy

By LabMedica International staff writers
Posted on 22 Nov 2023
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Image: Genetic testing can identify individuals with the potentially fatal heart condition (Photo courtesy of Intermountain Health)
Image: Genetic testing can identify individuals with the potentially fatal heart condition (Photo courtesy of Intermountain Health)

Cardiomyopathy, a diverse heart condition, impairs the heart's pumping efficiency by causing the muscles to stiffen, enlarge, or weaken. This can result in various complications, including irregular heartbeat, heart attacks, and potentially fatal outcomes. While some cardiomyopathy cases are acquired due to conditions like muscular dystrophy or alcoholism, approximately half are inherited genetically. Now, new research indicates that genetic screening is a valuable tool for identifying patients with cardiomyopathy, enhancing their life quality, and reducing mortality risks.

A comprehensive study by Intermountain Health (Salt Lake City, UT, USA) involving over 30,000 heart patients revealed the effectiveness of genetic screening in identifying those with this serious heart condition. This process enables clinicians to monitor these patients more closely and intervene medically when needed, potentially improving their quality of life and even saving lives. The study is a part of the HerediGene: Population Study, the most extensive DNA mapping project globally. The initiative aims to uncover new connections between genetics and various diseases.

Additionally, the study offers genetic screenings to participants to inform them about their disease risks and proactive health measures. The screening specifically identifies the pathogenic TTN variant, which impacts the gene responsible for producing a protein in cardiac muscles. Analysis of the first 32,159 sequenced patients revealed 411 with a pathogenic/likely pathogenic TTN variant. Of these, 135 (32.8%) had a cardiomyopathy diagnosis, while 276 (67.2%) did not. Interestingly, about a third of those with a potentially pathogenic TTN variant were diagnosed with cardiomyopathy; 27% showed no diagnosis but had indications of the disease.

Demographic and clinical characteristics varied significantly between those with and without a cardiomyopathy diagnosis. Among those undiagnosed, 75 (27%) showed clinical signs of cardiomyopathy. Of this group, 12 (16%) had passed away, and 22 (23%) had been hospitalized for heart failure. These findings underscore the need for more widespread whole genome testing. The researchers suggest regular monitoring of individuals with the genetic variant through echocardiograms from an early age and immediate attention upon exhibiting disease symptoms, adhering to standard cardiomyopathy care protocols.

“Our findings show that we’re missing a large percentage of the population that’s walking around with a genetic predisposition to a devastating kind of heart disease,” said Kirk Knowlton, MD, lead author of the study and director of cardiovascular research at Intermountain Medical Center. “Widespread genetic testing can identify these patients, and their families, which means we can better treat them.”

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