Open research questions in Cardiomyopathy and Myosin Studies
540 gap statements mined from Cardiomyopathy and Myosin Studies papers in our 7.9M-paper local library, which holds 2,380 papers on the topic — drawn mostly from each paper's own stated research gap, future-work, challenge and limitation notes, and its abstract. The ones listed below are a selection still marked open; each names the study that raised it, with a DOI link where the paper has one.
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What the literature leaves open
Future multicenter investigations incorporating quantitative LGE analysis are warranted to clarify whether the extent of myocardial scar offers additional risk stratification beyond LVEF and can guide patient selection for ICD therapy.
Long-Term Outcomes in Patients with Dilated Left Ventricular Non-Compaction Versus Dilated Cardiomyopathy: A Propensity Score Matching Study · 2026 · DOIAs a risk factor, a history of alcohol consumption may potentially exacerbate the outflow tract pressure gradient through its vasodilatory effects, although the precise mechanisms remain to be elucidated.
A Nomogram Integrating Inflammatory Biomarkers and Echocardiographic Parameters for Predicting Left Ventricular Outflow Tract Obstruction Risk in Hypertrophic Cardiomyopathy · 2026 · DOIOne of the key limitations is the small size of the groups according to their genotypes, especially the TTNtv/lof group (five patients in total and only four eligible for serum TTN analysis).
Titin Serum Level Is Elevated in Patients with Myocarditis Depending on Their Genetic Background · 2026 · DOIFamily screening in this context may be reasonable, though its broader applicability remains uncertain. Repolarization anomalies suggestive of underlying cardiomyopathy are uncommon when screening adolescents, hence why caution is warranted in such cases.
Family screening for genetic cardiomyopathies in ECG-positive phenotype-negative adolescents: a joint clinical and genetic approach · 2026 · DOIAlthough there are several studies describing patient perspectives toward genetic therapies for arrhythmogenic right ventricular cardiomyopathy, aneuploidies, retinal conditions, phenylketonuria, sickle cell disease, hemophilia, and spinal muscular atrophy, there is limited literature specifically addressing patients with inherited HCM or DCM.
Our study aligns with the themes in prior studies in finding that clinical severity of the participant, potential impact on quality of life, and limited knowledge regarding the efficacy, safety, and mechanism of the procedure influenced the hypothetical decision-making process for genetic therapies.
BackgroundEchocardiographic indices of diastolic dysfunction are routinely obtained in hypertrophic cardiomyopathy (HCM), but their relationships with cardiorespiratory fitness and long-term clinical outcomes remain poorly defined.
Diastolic Dysfunction Predicts Cardiorespiratory Fitness and Clinical Outcomes in Hypertrophic Cardiomyopathy · 2026 · DOIThey support the concept of disease-specific and context-dependent genetic risk profiles, reinforcing the need for personalized approaches to risk stratification and surveillance in children at risk of cardiomyopathy.
Although the specific mechanism of SAM was not investigated in this study, it is presumed that the LVOTO alleviation was achieved based on the effect observed in HOCM humans treated with disopyramide.
Disopyramide Therapy in Cats with Obstructive Hypertrophic Cardiomyopathy Non-Responsive to Carvedilol · 2025 · DOIAnticoagulation follows standard indications for atrial fibrillation and for documented apical thrombus; catheter ablation can reduce recurrent ventricular tachycardia in selected cases; advanced therapies such as ventricular assist devices and transplantation remain options in end-stage disease, while surgical resection of non-compacted myocardium is exceptional and supported by limited evidence.
Left Ventricular Non-Compaction Cardiomyopathy: A Review of the Pathophysiology, Epidemiology, Diagnosis, Genetics, and Clinical Management · 2025 · DOIThough distinct from adult-onset disease, it remains understudied, with considerable variability in presentation that complicates clinical decision-making.
Rethinking Childhood-Onset Hypertrophic Cardiomyopathy: A Review of Molecular Mechanisms and Unique Therapy Considerations · 2025 · DOIWhile the absolute difference between NCCM and DCM is relatively modest, these findings may reflect differences in the underlying pathophysiological mechanisms, which can be used to generate hypotheses and warrant further investigation.
Decreased Aortic Elasticity in Noncompaction Cardiomyopathy Compared to Dilated Cardiomyopathy · 2025 · DOIOne limitation in our study is that the experimental design did not permit assessment of whether morphological remodeling of the nuclei precedes the development of HCM; hence, it is unclear whether this observation represents a primary driver or secondary consequence of the Tnnc1-p.
Cardiomyocyte Nuclear Pleomorphism in a Mouse Model of Inherited Hypertrophic Cardiomyopathy · 2025 · DOILeft ventricular (LV) reverse myocardial remodeling occurs following septal myectomy in hypertrophic obstructive cardiomyopathy (HOCM), but it remains unclear whether diffuse fibrosis is reversible during this period.
Left ventricle myocardial remodeling following septal myectomy in patients with hypertrophic obstructive cardiomyopathy · 2025 · DOIDilated cardiomyopathy (DCM) represents a major cause of heart failure (HF), but current HF prediction models lack validation in DCM cohorts.
Time-dependent prognostic improvement by late gadolinium enhancement in dilated cardiomyopathy · 2025 · DOIThe prognostic value of left ventricular (LV) myocardial trabecular complexity on cardiovascular magnetic resonance (CMR) in dilated cardiomyopathy (DCM) remains unknown.
Prognostic value of left ventricular trabeculae fractal analysis in patients with dilated cardiomyopathy · 2024 · DOILastly, several limitations of the present study should be acknowledged. Moreover, long-term follow-up data are limited, and more cases with extended follow-up are needed function.
Endocardial thickening in dilated cardiomyopathy associated with FHL2 variant: a case report · 2026 · DOIData for assessing the ability of ECG to screen HCM in apparently healthy cats is scarce.
Accuracy of 6-lead electrocardiography in identifying subclinical hypertrophic cardiomyopathy in cats · 2026 · DOIConsensus is lacking on which endocardial borders to include when measuring left ventricular wall thickness (LVWT) in cats.
Influence of including or excluding endocardial borders on left ventricular wall thickness measurements in cats · 2026 · DOIThe effect of transapical beating-heart septal myectomy (TA-BSM) on the improvement of LA function and atrioventricular coupling remains uncertain.
Impact of transapical beating-heart septal myectomy on left atrial remodeling and atrioventricular coupling in hypertrophic obstructive cardiomyopathy · 2025 · DOIHowever, the clinical significance of age-specific longitudinal changes in LGE is not well characterized in HCM.
Accelerated myocardial fibrosis in young to middle-aged patients with hypertrophic cardiomyopathy · 2024 · DOIThe evolving understanding of cardiomyopathy genetics is poised to transform clinical practice by integrating rare, intermediate-effect, and common genetic variants into personalized risk models. A major goal is the development of comprehensive risk calculators that combine rare pathogenic variants, moderate-risk variants, PRSs, and clinical data to provide individualized and precise risk assessments.
From Rare Genetic Variants to Polygenic Risk: Understanding the Genetic Basis of Cardiomyopathies · 2025 · DOIThese findings identify KDM5A-dependent epigenetic dysregulation as a driver of HF and support further investigation of KDM5A inhibition as a potential therapeutic strategy for LMNA-CMP and possibly other forms of HF characterized by maladaptive epigenetic remodeling.
Histone Demethylase KDM5A Is Activated and Pathogenic in a Mouse Model of LMNA-Cardiomyopathy · 2026 · DOITogether findings point to a novel role for ANKB in the regulation of cardiomyocyte structural development and support additional investigation into a link between p.
Ankyrin-B regulates cardiomyocyte sarcomere organization and its protein-protein interactions are significantly altered by p.S646F expression · 2026 · DOIIn MVP-ComVE, higher segmental ECV% was not limited to the inferolateral/inferior LV wall, but was also demonstrated in atypical segments including the anterior/anterolateral wall…
Interstitial fibrosis and arrhythmic mitral valve prolapse: Unraveling sex-based differences · 2024 · DOI
Most-cited papers in Cardiomyopathy and Myosin Studies
- Evidence for Cardiomyocyte Renewal in Humans · Science · 2009 · 2,659 citations
- Hypertrophic Cardiomyopathy · JAMA · 2002 · 1,644 citations
- Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): a randomised, double-blind, placebo-controlled, phase 3 trial · The Lancet · 2020 · 1,270 citations
- 2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy · Journal of the American College of Cardiology · 2020 · 640 citations
- Diagnosis and Evaluation of Hypertrophic Cardiomyopathy · Journal of the American College of Cardiology · 2022 · 602 citations
- 2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines · Circulation · 2024 · 583 citations
- Management of Hypertrophic Cardiomyopathy · Journal of the American College of Cardiology · 2022 · 370 citations
- Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity · Nature Genetics · 2021 · 344 citations
- Evaluation of Mavacamten in Symptomatic Patients With Nonobstructive Hypertrophic Cardiomyopathy · Journal of the American College of Cardiology · 2020 · 340 citations
- 2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy · Journal of the American College of Cardiology · 2024 · 338 citations
Most recent work
- Differences in Disease Trajectory, Comorbidities, and Mortality in Sarcomeric and Nonsarcomeric Hypertrophic Cardiomyopathy · Circulation · 2026
- Evolution and Transformation of Hypertrophic Cardiomyopathy From a High Risk to a Treatable Low Mortality Disease With Contemporary Clinical Research Strategies · Journal of the American Heart Association · 2026
- Beta-Blocker (Bisoprolol) vs Calcium-Channel Blocker (Verapamil) in Nonobstructive Hypertrophic Cardiomyopathy · Journal of the American College of Cardiology · 2026
- EJHF expert consensus statement on the diagnosis and management of hypertrophic cardiomyopathy · European Journal of Heart Failure · 2026
- Real-world Genetic Testing Practices in Cardiomyopathy: National Insights From 1.7 Million Patients · Journal of Cardiac Failure · 2026
- Epidemiology of Hypertrophic Cardiomyopathy in the United States From 2016 to 2023 · JACC Advances · 2026
- N-Terminal Actin-Binding Site of Lmod2 Promotes Controlled Pointed End Elongation · Circulation Research · 2026
- Incidence and Outcomes of Atrial Fibrillation and Systolic Dysfunction in Patients Receiving Mavacamten for Obstructive Hypertrophic Cardiomyopathy: A Multicenter Study · Journal of Cardiac Failure · 2026
- Genetic counselling implementation in dilated cardiomyopathy · European Heart Journal · 2026
- Cardiomyopathy Gene Variants and Polygenic Risk Scores in Atrial Fibrillation · Journal of the American College of Cardiology · 2026
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