Evidence map›Paper›PMID 40004541›Full record

ArticleGenes2025

Clinical and Genetic Heterogeneity of HCM: The Possible Role of a Deletion Involving

Giancarlo Mancuso, Marina Marsan, Paola Neroni, Consolata Soddu, Francesco Lai, Laura Serventi, Milena Cau, Alessandra Coiana, Federica Incani, Stefania Murru and 1 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Article
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  4. Review
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

11 authors.

Giancarlo MancusoMedical Genetics Unit, Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy.ORCID 0009-0004-4969-1321
Marina MarsanPediatric and Rare Diseases Clinic, Microcitemico Hospital "A. Cao", Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy.
Paola NeroniNeonatal Intensive Care Unit, Department of Surgical Sciences, University of Cagliari, 09124 Cagliari, Italy.
Consolata SodduPediatric and Rare Diseases Clinic, Microcitemico Hospital "A. Cao", ASL 8 Cagliari, 09121 Cagliari, Italy.
Francesco LaiPediatric and Rare Diseases Clinic, Microcitemico Hospital "A. Cao", ASL 8 Cagliari, 09121 Cagliari, Italy.
Laura ServentiMedical Genetics Unit, Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy.
Milena CauGenetic and Genomic Laboratory, Pediatric Children Hospital "A. Cao", ASL 8 Cagliari, 09121 Cagliari, Italy.ORCID 0000-0003-2652-0330
Alessandra CoianaGenetic and Genomic Laboratory, Pediatric Children Hospital "A. Cao", ASL 8 Cagliari, 09121 Cagliari, Italy.ORCID 0000-0002-1039-5486
Federica IncaniGenetic and Genomic Laboratory, Pediatric Children Hospital "A. Cao", ASL 8 Cagliari, 09121 Cagliari, Italy.
Stefania MurruGenetic and Genomic Laboratory, Pediatric Children Hospital "A. Cao", ASL 8 Cagliari, 09121 Cagliari, Italy.
Salvatore SavastaPediatric and Rare Diseases Clinic, Microcitemico Hospital "A. Cao", Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND/

objectivesPediatric hypertrophic cardiomyopathy (HCM) is the most common genetic myocardial disorder in children and a leading cause of sudden cardiac death (SCD) among the young. Its phenotypic variability, driven by incomplete penetrance and variable expressivity, presents significant challenges in diagnosis and clinical management.

methodsIn this study, we report a unique case of a 16-month-old female diagnosed with HCM caused by a rare genetic deletion. Molecular analysis was performed using a multigene panel and chromosomal microarray analysis (CMA).

resultsMolecular tests identified a 30 kb deletion encompassing the

conclusionsThis case underscores the clinical and genetic heterogeneity of HCM, highlighting the importance of considering genomic deletions involving key sarcomeric genes in the diagnostic evaluation.

Indexed as

Cardiac MyosinsCardiomyopathy, HypertrophicGenetic HeterogeneityMyosin Heavy ChainsFemaleGene DeletionHumansInfantSequence DeletionCardiac MyosinsMYH6 protein, humanMYH7 protein, humanMyosin Heavy Chainscopy number variationMYH6MYH7pediatric hypertrophic cardiomyopathy

Identifiers

PMID40004541
PMCPMC11855101

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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.