Evidence map›Paper›PMID 41718518›Full record

ArticleJACC. Case reports2026

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

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

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in JACC. Case reports, 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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0cells of the map it votes in
0citing papers in PubMed
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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

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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

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5 · Who and what money

Authors and funding

8 authors.

Alejandra Cardona PerezDepartment of Internal Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Renee MoenningDepartment of Rheumatology, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Cynthia BodkinDepartment of Neurology, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Laurie GutmannDepartment of Neurology, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Benjamin M HelmDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Layne WellsDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Steven A MooreDepartment of Pathology, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
Onyedika J IlonzeDivision of Cardiovascular Medicine, Krannert Cardiovascular Research Center, Indiana University, Indianapolis, Indiana, USA. Electronic address: oilonze@iu.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundNonischemic 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.

Indexed as

cardiac transplantcardiomyopathychronic heart failuregenetic disorders

Identifiers

PMID41718518
PMCPMC13080840

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