Evidence map›Paper›PMID 42647267›Full record

ArticleMuscles (Basel, Switzerland)2026

Mexico's First Heart Transplant in a Patient with Becker Muscular Dystrophy Reveals an Overlooked Cause of Idiopathic Dilated Cardiomyopathy.

Norma Alejandra Vázquez-Cárdenas, Silvia García, Martha Eunice Rodríguez Arellano, Benjamín Gómez-Díaz, Delia Carolina López Vargas, Luz Berenice López-Hernández

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In one paragraph

Article in Muscles (Basel, Switzerland), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Norma Alejandra Vázquez-CárdenasLife Cycle Department, Universidad Autónoma de Guadalajara, Av. Patria 1201, Zapopan 45129, Mexico.
Silvia GarcíaInstituto de Seguridad y Servicios Sociales de los Trabajadores del Estado, Mexico City 03104, Mexico.ORCID 0000-0003-1760-3150
Martha Eunice Rodríguez ArellanoInstituto de Seguridad y Servicios Sociales de los Trabajadores del Estado, Mexico City 03104, Mexico.
Benjamín Gómez-DíazInstituto Nacional de Rehabilitación Luis Guillermo Ibarra Ibarra, Mexico City 14389, Mexico.ORCID 0000-0003-2509-4923
Delia Carolina López VargasAsociación de Distrofia Muscular de Occidente A.C., Guadalajara 44380, Mexico.
Luz Berenice López-HernándezLife Cycle Department, Universidad Autónoma de Guadalajara, Av. Patria 1201, Zapopan 45129, Mexico.ORCID 0000-0003-3912-6754

Funding

Seed Fund UAG
6 · The paper itself

Abstract

backgroundPathogenic variants in the DMD gene are a frequently overlooked cause of dilated cardiomyopathy (DCM) in idiopathic cases, especially when skeletal myopathy is mild or seemingly absent. Becker muscular dystrophy (BMD) and X-linked dilated cardiomyopathy are at opposite ends of this clinical spectrum but result from pathogenic variants in the same gene. Cardiomyopathy is a major cause of premature death in muscular dystrophies. CASE PRESENTATION: We describe a 37-year-old man who underwent orthotopic heart transplantation for presumed idiopathic DCM with refractory heart failure. He had a six-year history of progressive proximal weakness, pseudohypertrophy of the calf, a positive Gowers sign, and markedly elevated creatine kinase (6638 IU/L). Multiplex ligation-dependent probe amplification (MLPA) revealed an in-frame deletion of exons 45-47 of DMD [c. (6438+1_6439-1)_(6912+1_6913-1) del; NM_004006.2], confirming BMD. Immunofluorescence showed reduced and patchy dystrophin expression.

conclusionsTo our knowledge, this is the first documented heart transplant in a patient with BMD in Mexico. This case demonstrates the value of considering muscular dystrophy in the differential diagnosis of apparently idiopathic dilated cardiomyopathy (DCM), a step that opens the door to accurate diagnosis, carrier screening, and genetic counseling, and supports the view that heart transplantation is a viable option in carefully selected patients with muscular dystrophy cardiomyopathy.

Indexed as

Becker muscular dystrophydilated cardiomyopathydystrophinheart failureheart transplantationMLPA

Identifiers

PMID42647267
PMCPMC13511509

What Socratic holds

Textmetadata
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Registered trials

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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 Socratic graph.