NEXT GENERATION SEQUENCING FOR INHERITED CARDIOMYOPATHIES: IMPLICATIONS FOR CLINICAL PRACTICES

摘要

BACKGROUND: Inherited cardiomyopathies (ICs) are the leading cause of sudden death in young adults. Given their marked clinical and genetic heterogeneity, sequencing of multiple IC genes is needed to detect the underlying genetic cause and facilitate clinical interventions. OBJECTIVE: We sought to implement a Next Generation Sequencing (NGS)-based assay for the molecular diagnosis of diverse ICs and assess its diagnostic utility in a large heterogeneous cohort of patients.