Key result
Pathogenic RRAGC variant underlies fatal infantile dilated cardiomyopathy in Long-Olsen-Distelmaier syndrome.
Why the study?
Pediatric dilated cardiomyopathy presents unique challenges due to its rarity and the complexity of underlying genetic causes, such as rare mTOR-related disorders like Long-Olsen-Distelmaier syndrome.
Case Report (n=1)
This case report expands the phenotypic spectrum of RRAGC-associated Long–Olsen–Distelmaier syndrome by documenting a fatal neonatal presentation with dilated cardiomyopathy, bilateral congenital cataracts, focal epilepsy, and hyperlactatemia.
May warrant RRAGC testing in neonates with dilated cardiomyopathy plus cataracts; leaves open validation in larger cohorts.
Dilated cardiomyopathy (DCM) is a severe cardiac condition characterized by the enlargement and impaired contraction of the heart's ventricles. Pediatric cases often present unique challenges due to their rarity and the complexity of underlying genetic causes. This study presents the first documented case of a Colombian patient with neonatal DCM, bilateral congenital cataracts, focal epilepsy, and hyperlactatemia. Genetic testing identified a pathogenic variant in the RRAGC gene, establishing the diagnosis of Long–Olsen–Distelmaier syndrome, a rare mTOR‐related disorder characterized by syndromic cardiomyopathy and multisystem involvement. Additionally, we review the clinical and molecular characteristics of previously reported cases in the literature.
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Lores et al. (2026) conducted a case report in Long-Olsen-Distelmaier syndrome with neonatal dilated cardiomyopathy (n=1). Pathogenic variant in the RRAGC gene (genetic testing) was evaluated on Diagnosis of Long-Olsen-Distelmaier syndrome. A pathogenic RRAGC variant established Long-Olsen-Distelmaier syndrome in 1 Colombian neonate with fatal dilated cardiomyopathy, congenital cataracts, focal epilepsy, and hyperlactatemia.
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