Underdiagnosed Roifman syndrome manifested as non-ischaemic cardiomyopathy: a case report

Roifman syndrome is a rare congenital disorder characterized by growth retardation, cognitive delay, spondyloepiphyseal dysplasia, immunodeficiency, and retinal dystrophy. However, very rarely, with only one case reported to date, a patient with Roifman syndrome may develop cardiomyopathy in their lifetime. We reported a case with underdiagnosed Roifman syndrome confirmed by whole genome sequencing, manifested as non-ischaemic cardiomyopathy, which has broadened the association between non-ischaemic cardiomyopathy and the genetic disorder Roifman syndrome. We also underscored that cardiomyopathy might be part of the clinical manifestations of Roifman syndrome and the importance of whole genome sequencing for diagnosis, as RNU4ATAC is not targeted by many commercially available exome capture kits.