Genetic Testing Resources and Practice Patterns Among Pediatric Cardiomyopathy Programs.

ABSTRACT: The use of genetic testing has enhanced the diagnostic accuracy of heritable genetic cardiomyopathies. However, it remains unclear how genetic information is interpreted and incorporated into clinical practice for children with cardiomyopathy. The primary aim of this study was to understand how clinical practice differs regarding sequence variant classifications amongst pediatric cardiologists who treat children with cardiomyopathy. A secondary aim was to understand the availability of genetic testing and counseling resources across participating pediatric cardiomyopathy programs. An electronic survey was distributed to pediatric heart failure, cardiomyopathy, or heart transplantation physicians between August and September 2022. A total of 106 individual providers from 68 unique centers r

SUBMITTER: Godown J 

PROVIDER: S-EPMC11903623 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature