Evidence map›Paper›PMID 42274593›Full record

ArticleCells2026

Cardiovascular and Clinical Manifestations of Marfan Syndrome and Other Inherited Connective Tissue Disorders with Coexisting Genetic Variants.

Maria Elena Soto, Gilberto Vargas-Alarcón, Claudia Huesca-Gómez, Israel Pérez-Torres, José Antonio Arias-Godínez, Sergio Enrique Meza-Toledo, Regina de la Mora-Cervantes, Hugo Rodríguez-Zanella, Gabriela Meléndez-Ramírez, Linaloe Manzano-Pech and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cells, 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

12 authors.

Maria Elena SotoResearch Direction, Instituto Nacional de Cardiología Ignacio Chávez, Juan Badiano No. 1. Col. Sección XVI, México City 14080, Mexico.
Gilberto Vargas-AlarcónResearch Direction, Instituto Nacional de Cardiología Ignacio Chávez, Juan Badiano No. 1. Col. Sección XVI, México City 14080, Mexico.ORCID 0000-0001-7916-5163
Claudia Huesca-GómezPhysiology Department, Instituto Nacional de Cardiología Ignacio Chávez, Juan Badiano No. 1. Col. Sección XVI, México City 14080, Mexico.ORCID 0000-0002-6806-3484
Israel Pérez-TorresCardiovascular Biomedicine Department, Instituto Nacional de Cardiología Ignacio Chávez, Juan Ba-diano No. 1. Col. Sección XVI, México City 14080, Mexico.ORCID 0000-0001-6510-2954
José Antonio Arias-GodínezEchocardiography Department, Instituto Nacional de Cardiologia Ignacio Chávez Juan Badiano No. 1. Col. Sección XVI, México City 14080, Mexico.
Sergio Enrique Meza-ToledoBiochemistry Department, Escuela Nacional de Ciencias Biológicas, Instituto Politécnico Nacional (IPN), Manuel Carpio y Plutarco Elias Calles, Col. Miguel Hidalgo, México City 11350, Mexico.
Regina de la Mora-CervantesComputed Tomography Instituto Nacional de Cardiología Ignacio Chávez, Juan Badiano No. 1. Col. Sección XVI, México City 14080, Mexico.ORCID 0000-0001-6493-7765
Hugo Rodríguez-ZanellaEchocardiography Department, Instituto Nacional de Cardiologia Ignacio Chávez Juan Badiano No. 1. Col. Sección XVI, México City 14080, Mexico.ORCID 0000-0003-0336-5593
Gabriela Meléndez-RamírezMagnetic Resonance Department, Instituto Nacional de Cardiologia Ignacio Chávez Juan Badiano No. 1. Col. Sección XVI, México City 14080, Mexico.
Linaloe Manzano-PechCardiovascular Biomedicine Department, Instituto Nacional de Cardiología Ignacio Chávez, Juan Ba-diano No. 1. Col. Sección XVI, México City 14080, Mexico.
Giovanny Fuentevilla-ÁlvarezEndocrinology Department, Instituto Nacional de Cardiología Ignacio Chávez, Juan Badiano No. 1. Col. Sección XVI, México City 14080, Mexico.ORCID 0000-0002-1819-8444
Ricardo GamboaPhysiology Department, Instituto Nacional de Cardiología Ignacio Chávez, Juan Badiano No. 1. Col. Sección XVI, México City 14080, Mexico.ORCID 0000-0001-9102-4240

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Marfan syndrome (MS), Loeys-Dietz syndrome (LDS), Beals-Hecht syndrome (BHS), Ehlers-Danlos syndrome (EDS), and individuals with undifferentiated connective tissue disease (UCTD) exhibit phenotypic overlap, suggesting a likelihood of genotypic coexistence. Our objective was to evaluate genetic variants (GVs), encoding 174 genes related to aortopathies, cardiomyopathies, arrhythmias, structural heart disease, and hypercholesterolemia, and their relationship to clinical and cardiovascular damage in these syndromes. This was a prospective study in Mexican patients with MS, LDS, EDS, BHS, and UCTD. One hundred and seventy-four genes related to hereditary diseases were studied using next-generation sequencing targeting coding regions. Of the 136 patients, 25 were identified with the recurrent and coexisting GV of

Indexed as

Connective Tissue DiseasesGenetic VariationMarfan SyndromeAdolescentAdultChildChild, PreschoolFemaleHumansLoeys-Dietz SyndromeMaleMiddle AgedPhenotypeProspective StudiesYoung AdultarrhythmiasBeals–Hecht syndromeEhlers–Danlos syndromegenetic variant genes of sarcomere cardiomyopathiesLoeys–Dietz syndromeMarfan syndromestructural abnormalities and hypercholesterolemiaundifferentiated connective tissue disease

Identifiers

PMID42274593
PMCPMC13256586

What OpenQuestion holds

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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 OpenQuestion graph.