Evidence map›Paper›PMID 41383855›Full record

ArticleEuropean heart journal. Case reports2025

Hypertrophic cardiomyopathy in identical twins: a case report with mismatch between genotype and phenotype.

Manlio F Márquez-Murillo, Juan P Casillas-Muñoz, Carmen A Sánchez-Contreras, Armando Totomoch-Serra, Dennys A Mas-Bautista, Roberto Cano-Zarate, Clara A Vázquez-Antona, Santiago Nava

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In one paragraph

Article in European heart journal. Case reports, 2025. 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
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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

8 authors.

Manlio F Márquez-MurilloDepartment of Electrocardiology, National Institute of Cardiology Ignacio Chávez, Juan Badiano 1, Col. Belisario Domínguez-Sección XVI, Tlalpan, Mexico City 14080, Mexico.ORCID https://orcid.org/0000-0001-7294-7330
Juan P Casillas-MuñozDepartment of Electrocardiology, National Institute of Cardiology Ignacio Chávez, Juan Badiano 1, Col. Belisario Domínguez-Sección XVI, Tlalpan, Mexico City 14080, Mexico.ORCID https://orcid.org/0009-0001-2316-0723
Carmen A Sánchez-ContrerasDepartment of Electrocardiology, National Institute of Cardiology Ignacio Chávez, Juan Badiano 1, Col. Belisario Domínguez-Sección XVI, Tlalpan, Mexico City 14080, Mexico.ORCID https://orcid.org/0000-0003-4974-7802
Armando Totomoch-SerraDepartment of Electrocardiology, National Institute of Cardiology Ignacio Chávez, Juan Badiano 1, Col. Belisario Domínguez-Sección XVI, Tlalpan, Mexico City 14080, Mexico.ORCID https://orcid.org/0000-0002-7032-4348
Dennys A Mas-BautistaDepartment of Electrocardiology, National Institute of Cardiology Ignacio Chávez, Juan Badiano 1, Col. Belisario Domínguez-Sección XVI, Tlalpan, Mexico City 14080, Mexico.ORCID https://orcid.org/0009-0005-9903-3375
Roberto Cano-ZarateDepartment of Cardiac Magnetic Resonance, National Institute of Cardiology Ignacio Chávez, Juan Badiano 1, Col. Belisario Domínguez-Sección XVI, Tlalpan, Mexico City 14080, Mexico.ORCID https://orcid.org/0000-0002-1654-9669
Clara A Vázquez-AntonaDepartment of Pediatric Echocardiography, National Institute of Cardiology Ignacio Chávez, Juan Badiano 1, Col. Belisario Domínguez-Sección XVI, Tlalpan, Mexico City 14080, Mexico.ORCID https://orcid.org/0000-0001-9442-7432
Santiago NavaDepartment of Electrocardiology, National Institute of Cardiology Ignacio Chávez, Juan Badiano 1, Col. Belisario Domínguez-Sección XVI, Tlalpan, Mexico City 14080, Mexico.ORCID https://orcid.org/0000-0001-9903-6537

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiomyopathy; however, it is a very rare condition among twins. A mismatch between the phenotype and clinical course has been identified, even in the presence of apparently identical genotypes. Case summary: A pair of male monozygotic-diamniotic twins of 17 years old with a mismatch in HCM clinical expression is informed. Both twins have the same pathogenic variant [c.1816G>A (p.Val606Met)] located in Discussion: Despite carrying the same pathogenic variant, the phenotypical presentation and clinical course vary widely, despite a similar risk profile, suggesting the influence of genetic/epigenetic and environmental factors on disease progression.

Indexed as

Case reportHCM-related pathogenic variantMonozygotic-diamniotic twinsMyosin Heavy Chain-7 genePrimary hypertrophic cardiomyopathy

Identifiers

PMID41383855
PMCPMC12690468

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