PSI-QPI metrics improved prediction of TTN-TV disease penetrance and expressivity in cardiomyopathy patients.
New Tool Predicts Heart Failure Risk in Genetic Heart Disease
This cohort study evaluated PSI-DCM-LR-15, QPI, and PSI-QPI metrics in patients with cardiomyopathy due to TTN-TV and cardiac tissue from or…
A new combination of tests can more accurately predict which patients with genetic heart muscle disease will develop serious heart failure.
Review synthesizes genetic insights and CMR imaging traits as potential therapeutic targets for cardiomyopathies
New Clues to Treating Heart Muscle Diseases Found in Your Genes
This Mendelian randomization and imaging mediation analysis review identifies potential therapeutic targets for hypertrophic and dilated car…
This study connects your genes to specific heart changes, opening the door to more personalized treatments for heart muscle disease.
Plasma proteins linked to HCM severity identified in MYBPC3 carriers and UK Biobank
Could blood proteins predict dangerous heart conditions like sudden cardiac arrest in people with specific gene mutations?
This observational study examined 144 MYBPC3 pathogenic variant carriers and 6,492 UK Biobank participants to identify plasma proteins assoc…
Blood proteins linked to heart failure and sudden cardiac arrest appear in people with specific gene mutations, offering new warning signs f…
DCM Consortium PIs Rate Traditional Genetic Care Models More Acceptable Than Physician-Led Models
Which way to test for heart disease feels right to doctors?
A cross-sectional needs assessment of 24 Principal Investigators in the DCM Consortium found traditional synchronous and asynchronous geneti…
Doctors prefer traditional in-person visits over remote options when checking for genetic heart risks, though care for this condition varies…
Cardiac genetic testing mainstreaming increases uptake and reduces wait times but lowers informed decision making
Cardiac genetic testing in clinics increased access but reduced informed decision making
An observational study of patients with hypertrophic or dilated cardiomyopathy compared genetic testing offered in cardiology clinics (mains…
Offering genetic testing in cardiology clinics boosted access and cut wait times, yet only 62% of patients felt fully informed compared to 9…
Early age onset predicts MACE in pediatric cardiomyopathy patients with TTN variants
Study finds early age of onset predicts heart events in children with TTN gene cardiomyopathy
A retrospective observational cohort study of 53 pediatric patients with cardiomyopathy and TTN variants found early age-onset disease predi…
Children with TTN gene heart disease who develop symptoms before age six face higher risks of major heart events like failure or severe rhyt…
Case report identifies likely pathogenic TNNT2 variant in Chinese DCM patient; review finds 14 variants
Researchers identify a genetic variant linked to heart condition in a Chinese patient
A case report and systematic review examined genetic features in Chinese dilated cardiomyopathy (DCM) patients. A heterozygous TNNT2 variant…
A genetic variant linked to heart disease was found in a Chinese patient with dilated cardiomyopathy, but it wasn't present in his family, s…