cardiomyopathy
The CardioGenomic Testing Alliance aims to increase the utilization of NGS panels for numerous cardiac conditions including arrhythmias and cardiomyopathies.
International Heart Rhythm Societies Set Out Recommendations on Genetic Testing for Cardiac Diseases
The consensus statement, published this week, should help to guide decision-making around genetic testing for a variety of cardiac conditions.
Late-Onset Dilated Cardiomyopathy Study Suggests Older Patients May Benefit From Genetic Testing
The study also suggested that late-onset dilated cardiomyopathy may be a distinct disease subtype marked by increased Tintin-truncating variants.
Dilated Cardiomyopathy Gene Mutations Point to Possible Therapeutic Strategy
Homozygous loss-of-function mutations in the BAG5 gene turned up in a subset of inherited DCM patients, and BAG5 appeared amenable to gene therapy in mouse models.
Pediatric Cardiomyopathy Exome Sequencing Study Suggests More Disease Genes to be Found
The researchers were able to reach a molecular diagnosis for about a third of their cohort, but that varied based on age, ancestry, and cardiomyopathy subtype.