A rare homozygous variant of CHKB induced severe cardiomyopathy and a cardiac conduction disorder: a case report

This study expands the spectrum of <i>CHKB</i> mutations and provides essential information for the genotype-phenotype map of a nonsense variant of the gene. It is important to confirm a differential diagnosis among such patients using WES analyses. Regular cardiac and musculoskeletal monitoring is recommended for MCMD patients. Patients with a CHKB deficiency presenting with heart blocks could benefit from the administration of cardiac resynchronization therapy. This therapeutic approach might improve cardiac function and conduction in patients with CHKB-related cardiomyopathies.