Mosaic pathogenic

Vinicius Cabido, Yue Huang, Nancy Halnon, Judith Fan, Marlin Touma, Gregory A Fishbein, Majid Husain

Abstract readCase Reports

In one paragraph

Article in JHLT open, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it

0cells of the map it votes in

0citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Vinicius CabidoDivision of Pediatric Cardiology, UCLA Mattel Children's Hospital, 200 Medical Plaza, Suite 330, 90095, Los Angeles, CA.

Yue HuangDivision of Genetics, Department of Pediatrics, University of California, La Jolla, San Diego, CA.

Nancy HalnonDivision of Pediatric Cardiology, UCLA Mattel Children's Hospital, 200 Medical Plaza, Suite 330, 90095, Los Angeles, CA.

Judith FanDepartment of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA.

Marlin ToumaDivision of Neonatology and Developmental Biology, UCLA Mattel Children's Hospital, 757 Westwood Plaza, 90095, Los Angeles, CA.

Gregory A FishbeinDepartment of Pathology, David Geffen School of Medicine at UCLA, Los Angeles, CA.

Majid HusainDivision of Pediatric Cardiology, UCLA Mattel Children's Hospital, 200 Medical Plaza, Suite 330, 90095, Los Angeles, CA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PRKAG2 syndrome is a rare, autosomal dominant, glycogen storage disease of the heart characterized by a triad of ventricular hypertrophy, progressive conduction abnormalities, and pre-excitation. In severe cases, patients may present with neonatal onset of significant ventricular dysfunction with outflow obstruction resulting in sudden cardiac death or the need for transplantation. We present a unique case of an infant with non-diagnostic whole genome sequencing who developed progressive biventricular hypertrophy, ultimately requiring mechanical circulatory support and heart transplantation. Pathological evaluation of the explanted heart revealed excessive free glycogen accumulation within cardiomyocytes. Genetic testing identified a mosaic

Indexed as

Biventricular hypertrophyCardiomyopathyHeart transplantationMosaicismPRKAG2

Identifiers

PMID42100166

DOI10.1016/j.jhlto.2026.100562

PMCPMC13146544

What Socratic holds

Textmetadata

LicenceCC BY

Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.