We use cookies to understand how you use our site and to improve your experience. This includes personalizing content and advertising. To learn more, click here. By continuing to use our site, you accept our use of cookies. Cookie Policy.

Features Partner Sites Information LinkXpress
Sign In
Advertise with Us
LGC Clinical Diagnostics

Download Mobile App




Genetic Testing Can Identify Patients with Inherited Risk of Cardiomyopathy

By LabMedica International staff writers
Posted on 22 Nov 2023
Print article
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.”

Related Links:
Intermountain Health 

Platinum Member
COVID-19 Rapid Test
OSOM COVID-19 Antigen Rapid Test
Specimen Collection & Transport
Anti-Cyclic Citrullinated Peptide Test
GPP-100 Anti-CCP Kit
Gold Member
Turbidimetric Control
D-Dimer Turbidimetric Control

Print article

Channels

Hematology

view channel
Image: The Gazelle Hb Variant Test (Photo courtesy of Hemex Health)

First Affordable and Rapid Test for Beta Thalassemia Demonstrates 99% Diagnostic Accuracy

Hemoglobin disorders rank as some of the most prevalent monogenic diseases globally. Among various hemoglobin disorders, beta thalassemia, a hereditary blood disorder, affects about 1.5% of the world's... Read more

Pathology

view channel
Image: The photoacoustic spectral response sensing instrument is based on low-cost laser diodes (Photo courtesy of Khan et al., doi 10.1117/1.JBO.29.1.017002)

Compact Photoacoustic Sensing Instrument Enhances Biomedical Tissue Diagnosis

The pursuit of precise and efficient diagnostic methods is a top priority in the constantly evolving field of biomedical sciences. A promising development in this area is the photoacoustic (PA) technique.... Read more

Industry

view channel
Image: The companies will develop genetic testing systems based on capillary electrophoresis sequencers (Photo courtesy of 123RF)

Sysmex and Hitachi Collaborate on Development of New Genetic Testing Systems

Sysmex Corporation (Kobe, Japan) and Hitachi High-Tech Corporation (Tokyo, Japan) have entered into a collaboration for the development of genetic testing systems using capillary electrophoresis sequencers... Read more
Copyright © 2000-2024 Globetech Media. All rights reserved.