Dilated Cardiomyopathy and Later Onset Limb-Girdle Muscular Dystrophy Associated With Fukutin and Lamin A/C Mutations

Alejandra Cardona Perez; Renee Moenning; Cynthia Bodkin; Laurie Gutmann; Benjamin M. Helm; Layne Wells; Steven A. Moore; Onyedika J. Ilonze

doi:10.1016/j.jaccas.2026.107038

Back

Dilated Cardiomyopathy and Later Onset Limb-Girdle Muscular Dystrophy Associated With Fukutin and Lamin A/C Mutations

Journal article

Open access

Peer reviewed

Dilated Cardiomyopathy and Later Onset Limb-Girdle Muscular Dystrophy Associated With Fukutin and Lamin A/C Mutations

Alejandra Cardona Perez, Renee Moenning, Cynthia Bodkin, Laurie Gutmann, Benjamin M. Helm, Layne Wells, Steven A. Moore and Onyedika J. Ilonze

JACC. Case reports, 107038

2026

DOI: 10.1016/j.jaccas.2026.107038

PMCID: PMC13080840

PMID: 41718518

Files and links (1)

url

https://doi.org/10.1016/j.jaccas.2026.107038View

Published (Version of record) Open Access

Abstract

Background: Nonischemic dilated cardiomyopathy (DCM) can result from pathogenic variants in genes affecting myocardial structure and function. FKTN and LMNA mutations may involve both cardiac and skeletal muscle, consistent with limb-girdle muscular dystrophy (LGMD), with cardiac disease sometimes preceding neuromuscular symptoms. Case Summary: We report on 2 adults presenting with advanced DCM requiring heart transplantation, who were later diagnosed with LGMD. A 22-year-old woman had biallelic FKTN variants, and a 37-year-old man carried a heterozygous LMNA pathogenic variant. Both had elevated creatine kinase prior to proximal muscle weakness. Muscle biopsy and genetic testing confirmed dystrophic processes. Discussion: These cases demonstrate that genetically mediated DCM may initially present as isolated cardiac disease. Early genetic testing can guide transplant planning, long-term care, and family counseling.

Cardiomyopathy

Genetic Disorders

cardiac transplant

chronic heart failure

Details

Title: Subtitle: Dilated Cardiomyopathy and Later Onset Limb-Girdle Muscular Dystrophy Associated With Fukutin and Lamin A/C Mutations
Creators: Alejandra Cardona Perez - Indiana University School of Medicine
Renee Moenning - Indiana University – Purdue University Indianapolis
Cynthia Bodkin - Indiana University School of Medicine
Laurie Gutmann - Indiana University School of Medicine
Benjamin M. Helm - Indiana University School of Medicine
Layne Wells - Indiana University School of Medicine
Steven A. Moore - University of Iowa
Onyedika J. Ilonze - Indiana University – Purdue University Indianapolis
Resource Type: Journal article
Publication Details: JACC. Case reports, 107038
DOI: 10.1016/j.jaccas.2026.107038
PMID: 41718518
PMCID: PMC13080840
NLM abbreviation: JACC Case Rep
ISSN: 2666-0849
eISSN: 2666-0849
Publisher: Elsevier
Language: English
Electronic publication date: 2026
Academic Unit: Pathology
Record Identifier: 9985139295602771

Metrics

1 Record Views