Expanded Genetic Testing Leads to Additional Cardiomyopathy, Arrhythmia Diagnoses
Researchers estimated that more than 10 percent of positive results would have been missed had testing been based on clinician-provided diagnostic indications.
Single-Cell Transcriptomics Study Highlights Heart Failure Features Specific to Genotype
Researchers used single-nucleus RNA-seq to see heart failure-related shifts in cell populations and gene expression, including those coinciding with specific pathogenic variants.
Using a “sliding power window” method, the company found certain gene variant carriers with atrial fibrillation at higher risk for cardiomyopathies.
Advanced Dilated, Hypertrophic Cardiomyopathy Have Similar Transcriptional Profiles, Study Finds
The analysis also uncovered a set of activated fibroblasts within a subset of DCM and HCM samples that were not present among non-failing hearts.
The CardioGenomic Testing Alliance aims to increase the utilization of NGS panels for numerous cardiac conditions including arrhythmias and cardiomyopathies.