Key result
Homozygous LARS2 variant links to severe infant-onset dilated cardiomyopathy with ~21% LVEF.
Why the study?
Dilated cardiomyopathy had not previously been reported in molecularly confirmed LARS2-related Perrault syndrome type 4 (PRLTS4).
Case Report (n=1)
This is the first reported case of dilated cardiomyopathy in molecularly confirmed LARS2-related Perrault syndrome type 4, expanding the phenotypic spectrum of the disorder and supporting cardiac surveillance in affected infants.
Early DCM in PRLTS4 extends LARS2 phenotype; hypothesis-generating and leaves cardiac surveillance open pending confirmation.
We report a 19-month-old girl with molecularly confirmed Perrault syndrome type 4 (PRLTS4), due to a homozygous LARS2 variant (c.457A>C, p.Asn153His), who developed dilated cardiomyopathy (ejection fraction 21%) at 2 months of age despite a normal neonatal echocardiogram, alongside bilateral profound sensorineural hearing loss and global developmental delay. No second causative cardiac variant was identified. To our knowledge, this is the first reported case of dilated cardiomyopathy in molecularly confirmed LARS2-related PRLTS4, expanding the recognised phenotypic spectrum of this disorder and supporting cardiac surveillance in affected infants.
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AlKateb et al. (2026) conducted a case report in Dilated cardiomyopathy in LARS2-related Perrault syndrome type 4 (PRLTS4) (n=1). Homozygous LARS2 variant (c.457A>C, p.Asn153His) was evaluated on Dilated cardiomyopathy (left ventricular ejection fraction). Homozygous LARS2 variant (c.457A>C) in Perrault syndrome type 4 presented with infant-onset dilated cardiomyopathy (ejection fraction 21%) at 2 months of age.
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