Article
Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants.
Molecular diagnosis & therapy - 1 Sept 2022
Janin Alexandre, Perouse de Montclos Thomas, Nguyen Karine, Consolino Emilie, Nadeau Gwenael, Rey Gaelle, Bouchot Océane, Blanchet Patricia, Sabbagh Quentin, Cazeneuve Cécile, El-Malti Rajae, Morel Elodie, Delinière Antoine, Chevalier Philippe, Millat Gilles
Abstract excerpt
BACKGROUND AND OBJECTIVE: Pediatric cardiomyopathies are clinically heterogeneous heart muscle disorders associated with significant morbidity and mortality for which substantial evidence for a genetic contribution was previously reported. We present a detailed molecular investigation of a cohort of 231 patients presenting with primary cardiomyopathy below the age of 18 years. METHODS: Cases with pediatric...
Topics
- Adolescent
- Cardiomyopathies
- Child
- Genetic Testing
- High-Throughput Nucleotide Sequencing
- Humans
- Infant, Newborn
- Mutation
- Prospective Studies