Neonatal case of congenital dilated cardiomyopathy, cholestatic liver injury, and hyperferritinemia with FHL2 variant: a case report suggesting possible novel phenotypes

A male infant with fetal hydrops was diagnosed with congenital dilated cardiomyopathy and died at 2 months despite intensive treatment. Trio-exome sequencing identified as de novo FHL2 variant (p.Arg131Cys). He also presented with non-cardiogenic cholestatic liver injury and hyperferritinemia, which may represent novel FHL2-related phenotypes based on supporting evidence from experimental models.