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

Cells - 29 May 2026

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42274593
DOI: 10.3390/cells15111001
PMCID: PMC13256586

Genes

MYBPC3
FBN2
COL5A1
TGFBR2
COL3A1
COL5A2
FBN1
SMAD3
TGFBR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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