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Volume 15
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10.3390/cells15111001
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This is an early access version, the complete PDF, HTML, and XML versions will be available soon.
Article

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

by
Maria Elena Soto
1,2,*,
Gilberto Vargas-Alarcón
1,
Claudia Huesca-Gómez
3,
Israel Pérez-Torres
4,
José Antonio Arias-Godínez
5,
Sergio Enrique Meza-Toledo
6,
Regina de la Mora-Cervantes
7,
Hugo Rodríguez-Zanella
5,
Gabriela Meléndez-Ramírez
8,
Linaloe Manzano-Pech
4,
Giovanny Fuentevilla-Álvarez
9,* and
Ricardo Gamboa
3,*
1
Research Direction, Instituto Nacional de Cardiología Ignacio Chávez, Juan Badiano No. 1. Col. Sección XVI, México City 14080, Mexico
2
Cardiovascular Line in American British Cowdray (ABC) Medical Center, PAI ABC Sur 136 No. 116, Col. Las America’s, México City 01120, Mexico
3
Physiology Department, Instituto Nacional de Cardiología Ignacio Chávez, Juan Badiano No. 1. Col. Sección XVI, México City 14080, Mexico
4
Cardiovascular Biomedicine Department, Instituto Nacional de Cardiología Ignacio Chávez, Juan Ba-diano No. 1. Col. Sección XVI, México City 14080, Mexico
5
Echocardiography Department, Instituto Nacional de Cardiologia Ignacio Chávez Juan Badiano No. 1. Col. Sección XVI, México City 14080, Mexico
6
Biochemistry Department, Escuela Nacional de Ciencias Biológicas, Instituto Politécnico Nacional (IPN), Manuel Carpio y Plutarco Elias Calles, Col. Miguel Hidalgo, México City 11350, Mexico
7
Computed Tomography Instituto Nacional de Cardiología Ignacio Chávez, Juan Badiano No. 1. Col. Sección XVI, México City 14080, Mexico
8
Magnetic Resonance Department, Instituto Nacional de Cardiologia Ignacio Chávez Juan Badiano No. 1. Col. Sección XVI, México City 14080, Mexico
9
Endocrinology Department, Instituto Nacional de Cardiología Ignacio Chávez, Juan Badiano No. 1. Col. Sección XVI, México City 14080, Mexico
*
Authors to whom correspondence should be addressed.
Cells 2026, 15(11), 1001; https://doi.org/10.3390/cells15111001
Submission received: 15 April 2026 / Revised: 26 May 2026 / Accepted: 27 May 2026 / Published: 29 May 2026
(This article belongs to the Collection Cellular and Molecular Pathophysiology of Vascular Proliferative Diseases)
Versions Notes

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 MYBPC3. In the MS group, in addition to the presence of GV in FBN1, eight patients had GV in MYBPC3, six in FBN2, and five in COL3A1 and COL5A1. In the LDS group, in addition to GV in TGFBR1, TGFBR2, and SMAD3, four patients presented with GV in MYBPC3 and two with FBN2. In the BHS group, in addition to FBN2, two patients had GV in MYBPC3and one with TGFBR2. In the UCTD group, nine patients had GV in MYBPC3 and two in COL5A1 and COL5A2. All syndromes coexisted with GV in genes related to arrhythmias, sarcomeres, and hypercholesterolemia. In EDS, coexistence with several sarcomere proteins was found.
Keywords: genetic variant genes of sarcomere cardiomyopathies; arrhythmias; structural abnormalities and hypercholesterolemia; Marfan syndrome; Loeys–Dietz syndrome; Beals–Hecht syndrome; Ehlers–Danlos syndrome; undifferentiated connective tissue disease genetic variant genes of sarcomere cardiomyopathies; arrhythmias; structural abnormalities and hypercholesterolemia; Marfan syndrome; Loeys–Dietz syndrome; Beals–Hecht syndrome; Ehlers–Danlos syndrome; undifferentiated connective tissue disease

Share and Cite

MDPI and ACS Style

Soto, M.E.; Vargas-Alarcón, G.; Huesca-Gómez, C.; Pérez-Torres, I.; Arias-Godínez, J.A.; Meza-Toledo, S.E.; Mora-Cervantes, R.d.l.; Rodríguez-Zanella, H.; Meléndez-Ramírez, G.; Manzano-Pech, L.; et al. Cardiovascular and Clinical Manifestations of Marfan Syndrome and Other Inherited Connective Tissue Disorders with Coexisting Genetic Variants. Cells 2026, 15, 1001. https://doi.org/10.3390/cells15111001

AMA Style

Soto ME, Vargas-Alarcón G, Huesca-Gómez C, Pérez-Torres I, Arias-Godínez JA, Meza-Toledo SE, Mora-Cervantes Rdl, Rodríguez-Zanella H, Meléndez-Ramírez G, Manzano-Pech L, et al. Cardiovascular and Clinical Manifestations of Marfan Syndrome and Other Inherited Connective Tissue Disorders with Coexisting Genetic Variants. Cells. 2026; 15(11):1001. https://doi.org/10.3390/cells15111001

Chicago/Turabian Style

Soto, Maria Elena, 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 et al. 2026. "Cardiovascular and Clinical Manifestations of Marfan Syndrome and Other Inherited Connective Tissue Disorders with Coexisting Genetic Variants" Cells 15, no. 11: 1001. https://doi.org/10.3390/cells15111001

APA Style

Soto, M. E., Vargas-Alarcón, G., Huesca-Gómez, C., Pérez-Torres, I., Arias-Godínez, J. A., Meza-Toledo, S. E., Mora-Cervantes, R. d. l., Rodríguez-Zanella, H., Meléndez-Ramírez, G., Manzano-Pech, L., Fuentevilla-Álvarez, G., & Gamboa, R. (2026). Cardiovascular and Clinical Manifestations of Marfan Syndrome and Other Inherited Connective Tissue Disorders with Coexisting Genetic Variants. Cells, 15(11), 1001. https://doi.org/10.3390/cells15111001

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