ArticleESC heart failure2020
Case series: LMNA-related dilated cardiomyopathy presents with reginal wall akinesis and transmural late gadolinium enhancement.
Article in ESC heart failure, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 10 citations in OpenAlex.
- Validating an Idiopathic Dilated Cardiomyopathy Diagnosis Using Cardiovascular Magnetic Resonance: The Dilated Cardiomyopathy Precision Medicine Study.Circulation. Heart failure · 2022Trial
- Article
- Variant-Specific Late Gadolinium Enhancement Patterns Influence Clinical Outcomes inJournal of the American Heart Association · 2025Article
- EMD missense variant causes X-linked isolated dilated cardiomyopathy with myocardial emerin deficiency.European journal of human genetics : EJHG · 2025Article
- The Genetic Factors Influencing Cardiomyopathies and Heart Failure across the Allele Frequency Spectrum.Journal of cardiovascular translational research · 2024Review
- The Pathogenic Mechanisms of and Novel Therapies for Lamin A/C-Related Dilated Cardiomyopathy Based on Patient-Specific Pluripotent Stem Cell Platforms and Animal Models.Pharmaceuticals (Basel, Switzerland) · 2024Review
- Novel Phenotype of LMNA Variant c.154C>G Affecting Heart, Liver, and Lipid and Iron Metabolism: A Case Report.Cureus · 2023Article
- Article
- A Study of Gene Expression, Structure, and Contractility of iPSC-Derived Cardiac Myocytes from a Family with Heart Disease due to LMNA Mutation.Annals of biomedical engineering · 2021Article
- Case series: LMNA-related dilated cardiomyopathy presents with reginal wall akinesis and transmural late gadolinium enhancement.ESC heart failure · 2020Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Patients with LMNA mutation-related heart disease are characterized by conduction abnormalities, ventricular tachyarrhythmias, and high risk of sudden cardiac death with mildly impaired systolic function, often without chamber dilation. Here, we presented three unrelated cases with LMNA mutation exhibited unusual cardiac phenotype of marked LV dilation, significant reduced ejection fraction with reginal wall akinesis, and transmural enhancement with a predilection of lateral wall on cardiovascular magnetic resonance (CMR). These three patients were found to have confirmed pathological LMNA mutations (c.1621C > T, p.R541C and c.1621G > A, p.R541H) at the same location (p.R541) in the tail region of lamin A/C.
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