Article
Genetic Testing in Pediatric Cardiomyopathy.
Pediatric cardiology - 1 Mar 2018
Ellepola Chalani D, Knight Linda M, Fischbach Peter, Deshpande Shriprasad R
Abstract excerpt
Genetic testing is recommended in patients with dilated cardiomyopathy (DCM); however, limited studies demonstrate high yields of genetic testing in non-hypertrophic (HCM) patients. Furthermore, there is sparse genotype-phenotype data in pediatric DCM patients. We performed a retrospective review of 70 consecutive probands with cardiomyopathy (non-HCM) who underwent genetic evaluation. Mean age at presentation...
Topics
- Adolescent
- Cardiomyopathies
- Child
- Child, Preschool
- Echocardiography
- Female
- Genetic Association Studies
- Genetic Testing
- Humans
- Infant
- Male
- Mutation