Article

Rapidly Progressive Infantile Dilated Cardiomyopathy in Long–Olsen–Distelmaier Syndrome Associated with RRAGC NM_022157.4:c.343T>C, p.(Trp115Arg): A Case Report

2026-08-13

Abstract excerpt

<h4>Background: </h4> Infantile dilated cardiomyopathy (DCM) is uncommon but carries substantial mortality, particularly when accompanied by neurological, ocular, or metabolic abnormalities. Long-Olsen-Distelmaier syndrome is a rare mTORopathy caused by heterozygous gain-of-function variants in RRAGC and may include cortical malformations, congenital cataracts, mineral disturbances, and early-onset DCM. Case Summa...

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Literature Corpus work: 7fd9dd47-f72c-5e2e-a8fa-a1ed61c6a75b
DOI: 10.20944/preprints202608.0935.v1

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