Evidence map›Paper›PMID 42227926›Full record

ArticleJACC. Case reports2026

Dilated and Noncompaction Cardiomyopathy in a Pediatric Patient With Maternal CASZ1 Variant.

Lauren Sekiguchi, Michael Nguyen-Truong, Kristy Y Lin, David P Chan

Abstract readCase Reports
In one paragraph

Article in JACC. Case reports, 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

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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

4 authors.

Lauren SekiguchiCarle Illinois College of Medicine, Urbana, Illinois, USA. Electronic address: lauren26@illinois.edu.
Michael Nguyen-TruongCarle Illinois College of Medicine, Urbana, Illinois, USA.
Kristy Y LinCarle Illinois College of Medicine, Urbana, Illinois, USA.
David P ChanCarle Illinois College of Medicine, Urbana, Illinois, USA; Carle Foundation Hospital, Urbana, Illinois, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe CASZ1 gene expresses a cardiomyocyte transcription factor implicated in early heart morphogenesis. CASZ1 variants have been associated with the development of dilated cardiomyopathy (DCM) and noncompaction cardiomyopathy (NCCM), although reported cases are limited. CASE SUMMARY: A 3-month-old boy with no family history of cardiomyopathy presented with a murmur and persistent tachycardia. Echocardiogram showed moderate global left ventricular hypokinesis with trabeculations and mild left atrial dilation. Genetic testing identified an autosomal dominant CASZ1 variant in exon 15, c.3088del:p.(His1030Thrfs∗120), inherited from his asymptomatic mother. Although he is clinically doing well at age 18 months, he will need lifelong management. DISCUSSION: Our case highlights the discovery of a novel CASZ1 variant leading to DCM and NCCM, emphasizing the importance of genetic testing in patients with no known family history. TAKE-HOME MESSAGE: Genetic testing is a critical component of the workup of unexplained DCM and NCCM in pediatric patients.

Indexed as

cardiomyopathygenetic disordersgeneticsleft ventriclemurmurtachycardia

Identifiers

PMID42227926
PMCPMC13420658

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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 OpenQuestion graph.