Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 3 complete abstracts (485 words), 9 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
A group of diseases in which the dominant feature is the involvement of the cardiac muscle itself. Cardiomyopathies are classified according to their predominant pathophysiological features (dilated cardiomyopathy; hypertrophic cardiomyopathy; restrictive cardiomyopathy) or their etiological/pathological factors (cardiomyopathy, alcoholic; endocardial fibroelastosis).
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Cardiomyopathy; Myocardial Disease; Disease, Myocardial; Diseases, Myocardial; Myocardial Diseases; Myocardiopathies; Myocardiopathy; Cardiomyopathies, Primary.
Where it fits in the MeSH classification
- Broader topics
- Heart Diseases
- Narrower topics
- Arrhythmogenic Right Ventricular Dysplasia; Cardiomyopathy, Alcoholic; Cardiomyopathy, Dilated; Cardiomyopathy, Hypertrophic; Cardiomyopathy, Restrictive; Chagas Cardiomyopathy; Diabetic Cardiomyopathies; Endocardial Fibroelastosis; Endomyocardial Fibrosis; Glycogen Storage Disease Type IIb; Kearns-Sayre Syndrome; Myocardial Reperfusion Injury; Myocarditis; Peripartum Cardiomyopathy
Related concepts
- Myocardium
- Dilated Cardiomyopathy
- Hypertrophic Cardiomyopathy
- Restrictive Cardiomyopathy
- Cardiomyopathy
- Alcoholic
- Endocardial Fibroelastosis
Research landscape
PubMed indexes 125,136 records tagged with the MeSH heading “Cardiomyopathies” (counts retrieved 2026-10-29). 27,555 of them (22.0%) were published from 2020 onward, and the busiest period so far is through 1999 with 36,853 records.
Reviews account for 17,403 records (13.9%) and meta-analyses for 754. Randomized controlled trials number 1,613 (1.3%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.
Show the data
| Period | Records |
|---|---|
| through 1999 | 36,853 |
| 2000-2009 | 24,438 |
| 2010-2019 | 36,290 |
| 2020 onward | 27,555 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 17,403 | 13.9% |
| Meta-analyses | 754 | 0.6% |
| Randomized controlled trials | 1,613 | 1.3% |
Method: PubMed query "Cardiomyopathies"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-29.
Reading the evidence in cardiovascular medicine
Cardiovascular medicine has an unusually large body of randomized trials, so the type of outcome matters: hard clinical events such as death, heart attack and stroke carry more weight than changes in blood pressure, cholesterol or imaging markers that only predict risk. Observational studies can show associations but are confounded by age, lifestyle and other illness. Check whether a result is about prevention or treatment, the baseline risk of participants, and the absolute rather than only the relative size of any benefit.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
| Study / authors | Year | Source label / design | Europe PMC citations | Licence / source |
|---|---|---|---|---|
| Age-associated loss of lymphatic vessels promotes cardiac inflammation | 2026 | Research article Design not recorded in structured metadata | 1 | cc by PMID 42745058 · DOI · PMC13658025 |
| Prevalence and determinants of asymmetric septal hypertrophy (ASH) in diseases of left ventricular hypertrophy (LVH) | 2026 | Research article Design not recorded in structured metadata | 1 | cc by PMID 42544038 · DOI · PMC13623422 |
| Alpha protein kinase 3 gene therapy restores heart function in mouse and human models of cardiomyopathy | 2026 | Research article Design not recorded in structured metadata | 1 | cc by PMID 42618778 · DOI · PMC13561881 |
Age-associated loss of lymphatic vessels promotes cardiac inflammation [1]
Abstract reading summary — source excerpts
- Opening excerpt
- Aging is a major risk factor for cardiovascular disease, but the role of the cardiac lymphatic vasculature in this process remains poorly understood.
- Closing excerpt
- Cardiac Vegfc overexpression or Il33 silencing restores lymphatic density and tissue homeostasis in aged hearts, identifying a potential therapeutic target for age-related cardiac dysfunction.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (154 words)
Aging is a major risk factor for cardiovascular disease, but the role of the cardiac lymphatic vasculature in this process remains poorly understood. Here we show that aging reduces cardiac lymphatic vessel density in humans and mice and induces structural remodeling characterized by tighter, zipper-like endothelial junctions. These changes are associated with immune cell infiltration, fibrinogen and amyloid accumulation, and myocardial edema. Selective reduction of cardiac lymphatics in young mice, through Flt4 (VEGFR3) depletion or soluble Flt4 overexpression, recapitulates key features of cardiac aging, including inflammation and impaired lymphatic integrity. Mechanistically, aging induces selective upregulation of nuclear interleukin-33 (IL-33) in lymphatic endothelial cells. Unlike extracellular IL-33, nuclear IL-33 promotes lymphatic endothelial cell death and junctional remodeling. We identify VEGFC as an age-sensitive regulator that declines with aging and suppresses IL-33. Cardiac Vegfc overexpression or Il33 silencing restores lymphatic density and tissue homeostasis in aged hearts, identifying a potential therapeutic target for age-related cardiac dysfunction.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 42745058 · DOI · PMC13658025
Prevalence and determinants of asymmetric septal hypertrophy (ASH) in diseases of left ventricular hypertrophy (LVH) [2]
Abstract reading summary — source excerpts
- Opening excerpt
- AimsTo determine the prevalence of asymmetric septal hypertrophy (ASH) across health and in diseases associated with left ventricular hypertrophy (LVH), including hypertrophic cardiomyopathy (HCM).
- Closing excerpt
- After adjusting for age, sex, and body-size, disproportionate septal asymmetry was most characteristic of HCM.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (164 words)
AimsTo determine the prevalence of asymmetric septal hypertrophy (ASH) across health and in diseases associated with left ventricular hypertrophy (LVH), including hypertrophic cardiomyopathy (HCM).Methods and resultsWe analysed two complementary datasets. First, a large UK Biobank healthy reference cohort (n = 4020) was used to model demographic determinants of septal-to-lateral wall thickness ratio (SLR) and to provide the reference group for age-, sex-, and body surface area-adjusted comparisons. Second, a multi-cohort clinical CMR dataset included 1655 subjects comprising local healthy volunteers, athletes, patients with hypertension, aortic stenosis, Fabry disease, amyloid light chain (AL) amyloidosis, amyloid transthyretin (ATTR) amyloidosis, and HCM. LVH was defined by maximum wall thickness (MWT) ≥15 mm and asymmetry defined as SLR≥1.3. Left ventricular morphology was classified as normal, asymmetric remodelling (SLR≥1.3; MWTConclusionASH is a common but non-specific finding in diseases associated with LVH. Septal asymmetry increases with age and body-size and is more pronounced in women. After adjusting for age, sex, and body-size, disproportionate septal asymmetry was most characteristic of HCM.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 42544038 · DOI · PMC13623422
Alpha protein kinase 3 gene therapy restores heart function in mouse and human models of cardiomyopathy [3]
Abstract reading summary — source excerpts
- Opening excerpt
- Truncating variants in the ALPK3 gene (encoding alpha protein kinase 3) cause severe cardiomyopathy for which no curative treatment exists1-3.
- Closing excerpt
- These findings provide proof of concept for ALPK3 gene therapy in patients with ALPK3 cardiomyopathy and reveal potential for indication expansion to cardiomyopathies associated with TTN-truncating variants, which are not amenable to gene replacement therapy due to size limitations.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (167 words)
Truncating variants in the ALPK3 gene (encoding alpha protein kinase 3) cause severe cardiomyopathy for which no curative treatment exists1-3. Here we establish an adeno-associated virus (AAV)-mediated gene replacement therapy to deliver full-length human ALPK3. AAV-ALPK3 prevented disease in neonatal Alpk3-mutant mice and reversed established pathology in adults, with proteomic analysis demonstrating reversal of more than 95% of the molecular disease signature. Beyond ALPK3 deficiency, we explored broader therapeutic potential based on ALPK3's regulatory role in proteostasis, a pathway commonly disrupted across cardiomyopathies. ALPK3 expression is reduced in cardiomyocytes with TTN-truncating variants, the most prevalent cause of dilated cardiomyopathy, and the encoded titin protein has a protein quality control network in common with ALPK3. AAV-ALPK3 restored contractile function in human cardiac organoids with an ALPK3- or TTN-truncating variant. These findings provide proof of concept for ALPK3 gene therapy in patients with ALPK3 cardiomyopathy and reveal potential for indication expansion to cardiomyopathies associated with TTN-truncating variants, which are not amenable to gene replacement therapy due to size limitations.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 42618778 · DOI · PMC13561881
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure [4]
- Research article Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect [5]
- Research article Redefining the epidemiology of cardiac amyloidosis. A systematic review and meta-analysis of screening studies [6]
- Research article Native T1 Mapping, Extracellular Volume Mapping, and Late Gadolinium Enhancement in Cardiac Amyloidosis: A Meta-Analysis [7]
- Research article Myopericarditis following COVID-19 vaccination and non-COVID-19 vaccination: a systematic review and meta-analysis [8]
- Research article Pacing-induced cardiomyopathy: A systematic review and meta-analysis of definition, prevalence, risk factors, and management [9]
References
- Wagner JUG, Gulshan H, Sultan I, Antila S, Esteve LC, Rodriguez Morales D, et al.. Age-associated loss of lymphatic vessels promotes cardiac inflammation. . 2026. PMID 42745058 · DOI · PMC13658025
- Shiwani H, Augusto J, Topriceanu CC, Ioannou A, Rosmini S, Maestrini V, et al.. Prevalence and determinants of asymmetric septal hypertrophy (ASH) in diseases of left ventricular hypertrophy (LVH). . 2026. PMID 42544038 · DOI · PMC13623422
- McNamara JW, Keen EB, Sutton R, She Y, Huckstep H, Le LHH, et al.. Alpha protein kinase 3 gene therapy restores heart function in mouse and human models of cardiomyopathy. . 2026. PMID 42618778 · DOI · PMC13561881
- Shah S, Henry A, Roselli C, Lin H, Sveinbjörnsson G, Fatemifar G, et al.. Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure. Nat Commun. 2020. PMID 31919418 · DOI · PMC6952380
- Tadros R, Francis C, Xu X, Vermeer AMC, Harper AR, Huurman R, et al.. Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect. Nat Genet. 2021. PMID 33495596 · DOI · PMC7611259
- Aimo A, Merlo M, Porcari A, Georgiopoulos G, Pagura L, Vergaro G, et al.. Redefining the epidemiology of cardiac amyloidosis. A systematic review and meta-analysis of screening studies. Eur J Heart Fail. 2022. PMID 35509173 · DOI · PMC10084346
- Pan JA, Kerwin MJ, Salerno M. Native T1 Mapping, Extracellular Volume Mapping, and Late Gadolinium Enhancement in Cardiac Amyloidosis: A Meta-Analysis. JACC Cardiovasc Imaging. 2020. PMID 32498919 · DOI · PMC7340140
- Ling RR, Ramanathan K, Tan FL, Tai BC, Somani J, Fisher D, et al.. Myopericarditis following COVID-19 vaccination and non-COVID-19 vaccination: a systematic review and meta-analysis. Lancet Respir Med. 2022. PMID 35421376 · DOI · PMC9000914
- Somma V, Ha FJ, Palmer S, Mohamed U, Agarwal S. Pacing-induced cardiomyopathy: A systematic review and meta-analysis of definition, prevalence, risk factors, and management. Heart Rhythm. 2023. PMID 36356656 · DOI
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-10-31; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-10-29.
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Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.