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

Abstract

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.

Keywords: Cardiomyopathy; Heart failure; Roifman syndrome; Whole genome sequencing.

Figure 1

Echocardiogram status post‐MitraClip implantation four‐chamber view showed dilated left ventricle (left ventricular internal diameter in diastole of 6.4 cm), severe left ventricular systolic dysfunction (left ventricular ejection fraction of 21%), and residual moderate mitral regurgitation per Doppler flow view (right side).

Figure 2

U4ATAC snRNA secondary structure elements, evolutionary conservation status of each nucleotide position, and Roifman syndrome causal variants (orange and brown triangles) (modified from Merico et al. ⁵ ). The pathogenic variant in RNU4ATAC (NR_023343.1:n.118T>C) is marked as per orange triangle.