Work

Fatal Neonatal mTORopathy : Expanding the Phenotypic Spectrum of RRAGC ‐Associated L ong– O lsen– D istelmaier Syndrome

Year: 2026

Type: article

Abstract: 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.

Source: Clinical Genetics

DOI: 10.1111/cge.70263

Authors: Juliana Lores, Valentina Botia‐Arciniegas, Diana Ramirez‐Montaño, Harry Pachajoa, David Vernaza‐Trujillo, Milena Prada‐Casilimas

Institutions: Pontificia Universidad Javeriana, Hospital Universitario del Valle ESE, Universidad del Valle, Fundación Valle del Lili, Universidad Icesi

Language: English

Topic: Cardiomyopathy and Myosin Studies

Subfield: Cardiology and Cardiovascular Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W7223564995

FWCI:

Cites: 17

Cited by:

Related to: 10