Open research questions in Cardiomyopathy and Myosin Studies
113 unresolved questions extracted from the limitations and future-work sections of 339 Cardiomyopathy and Myosin Studies papers in our library. Each links back to the study that raised it.
What the literature leaves open
Further studies are needed to clarify the biological mechanisms of FLNC-related cardiac disease - Investigation of the correlation between LVEF and arrhythmic risk is necessary - Research on the clinical management of patients with FLNC variants is required
There is a need for accurate variant classification and phenotype integration to diagnose and prevent sudden cardiac death. The clinical interpretation of FLNC variants depends strongly on variant class and evidence of pathogenicity.
The relationship between atrial remodelling and disease progression in HCM is not fully understood. The prognostic role and therapeutic target of atrial remodelling in HCM are not well established. There is a need for further research on the effects of therapeutic interventions on atrial remodelling in HCM patients.
Atrial remodelling and dysfunction in hypertrophic cardiomyopathy: prognostic role and therapeutic target · 2025 · DOIMuscle function depends on the ability of myofibrils to withstand and repair mechanical damage, yet how adult muscles remodel damaged myofibrils remains poorly understood.
Both myotropes bind to the same myosin pocket but their mechanisms of action remain incompletely understood.
Percutaneous intramyocardial septal radiofrequency ablation (Liwen procedure) is a less invasive alternative, but head-to-head comparisons of longitudinal hemodynamic trajectories and conduction system safety remain scarce, limiting evidence-based treatment selection.
Liwen Ablation versus Modified Morrow Myectomy for Obstructive Hypertrophic Cardiomyopathy: 1-Year Hemodynamic and Conduction Outcomes · 2026 · DOIBackground: Hypertrophic cardiomyopathy (HCM) exhibits clinical heterogeneity and age-related penetrance, yet its molecular basis across adulthood remains incompletely understood.
Age-Stratified Integrative Transcriptomic Analysis Reveals a Conserved Fibrotic Core and Distinct Molecular Signatures in Hypertrophic Cardiomyopathy · 2026 · DOIEmerging therapies, like cardiac myosin inhibitors, also improve LV function but present complex effects on atrial performance, with some evidence suggesting a reduction in atrial strain that warrants further investigation.
Atrial remodelling and dysfunction in hypertrophic cardiomyopathy: prognostic role and therapeutic target · 2025 · DOIThe natural history of MFM and myopathies associated with MFM-related genes remains poorly characterized.
Natural History and Phenotypic Spectrum of Myofibrillar Myopathies and Myopathies Associated With MFM-Related Genes · 2025 · DOIHow these three proteins interact to control thick filament activation is poorly understood.
Structure of mavacamten-free human cardiac thick filaments within the sarcomere by cryoelectron tomography · 2024 · DOIAlthough recommended in current guidelines, data on the direct effect of discontinuing afterload-reducing medication are scarce.
Discontinuation of afterload-reducing drugs decreases left ventricular outflow tract obstruction in hypertrophic obstructive cardiomyopathy · 2024 · DOIHowever, the exact prevalence of PH in ApHCM and sex differences remain uncertain.
Prevalence, sex differences, and implications of pulmonary hypertension in patients with apical hypertrophic cardiomyopathy · 2024 · DOIBackground While electrocardiographic parameters of hypertensive left ventricular hypertrophy (H-LVH) are well known, limited data are available regarding hypertrophic cardiomyopathy (HCM).
Clinical utility of electrocardiographic voltage parameters for the diagnosis of hypertrophic cardiomyopathy · 2024 · DOIConsequently, evidence for guideline recommendations in this patient population is lacking.
No beneficial use of the wearable cardioverter defibrillator among patients suffering from inherited and congenital heart disease: data from a European multicenter registry · 2024 · DOIAbstract Familial cardiomyopathy in pediatric stages is a poorly understood presentation of heart disease in children that is attributed to pathogenic mutations.
Genetic myopathies are frequently involved; however, studies using next-generation sequencing (NGS) in pediatric patients are lacking, and the significance of genetic aberrations remains poorly understood.
The primary limitation of this study was that not all ancillary tests were performed in all recruited patients owing to ethical restrictions, which lowered the power of the predictive analysis.
Unlike adult DCM, the pathogenesis of pediatric DCM is not well understood as approximately two thirds of cases are classified as idiopathic disease.
Pediatric dilated cardiomyopathy: a review of current clinical approaches and pathogenesis · 2024 · DOIThe developmental mechanism underpinning noncompaction in the adult heart is still not fully understood, with lack of trabeculae compaction, hypertrabeculation, and loss of proliferation cited as possible causes.
Morphological, electrophysiological, and molecular alterations in foetal noncompacted cardiomyopathy induced by disruption of ROCK signalling · 2024 · DOIThe study has a small sample size of 10 neonates. The follow-up period was limited to 1 year.
Clinical characteristics and short-term outcomes of left ventricular non-compaction cardiomyopathy in neonates · 2026 · DOIThe diagnosis of LVNC is challenging due to its highly variable clinical manifestations. There is a need for studies on the clinical characteristics and short-term outcomes of LVNC in neonates.
Clinical characteristics and short-term outcomes of left ventricular non-compaction cardiomyopathy in neonates · 2026 · DOIThe mechanical properties of MYO1B and its role in cellular processes are not well understood. The regulation of MYO1B and its implications for human diseases are not well studied.
MYO1B in human disease: an actin-based motor linking membrane trafficking to oncogenic signaling, metastasis, and vascular aging · 2026 · DOIThere is a paucity of literature on mid-ventricular obstruction. The use of mavacamten in patients with mid-ventricular and apical hypertrophic cardiomyopathy has not been well-studied.
Case Report: Mavacamten in mid-ventricular and apical hypertrophic cardiomyopathy—a case of targeted therapy beyond left ventricular outflow tract obstruction · 2026 · DOIThis is a single case report; controlled trials with larger patient populations are needed to establish the efficacy and safety of mavacamten specifically in MVO and apical HCM phenotypes.
Case Report: Mavacamten in mid-ventricular and apical hypertrophic cardiomyopathy—a case of targeted therapy beyond left ventricular outflow tract obstruction · 2026 · DOITo investigate the prognostic value of T1ρ mapping. To compare T1ρ mapping with other non-contrast CMR techniques. To evaluate the performance of T1ρ mapping in a larger cohort of patients.
Assessment of myocardial fibrosis in ischemic and non-ischemic cardiomyopathies using cardiac magnetic resoance non-contrast T1ρ mapping · 2026 · 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
- 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
- 2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy · Journal of the American College of Cardiology · 2024 · 338 citations
- Aficamten for Symptomatic Obstructive Hypertrophic Cardiomyopathy · New England Journal of Medicine · 2024 · 283 citations
- X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria · The Journal of Pediatrics · 1991 · 242 citations
- Phase 2 Study of Aficamten in Patients With Obstructive Hypertrophic Cardiomyopathy · Journal of the American College of Cardiology · 2023 · 195 citations
- Efficient in vivo genome editing prevents hypertrophic cardiomyopathy in mice · Nature Medicine · 2023 · 192 citations
Most recent work
- Mavacamten in Adolescents with Obstructive Hypertrophic Cardiomyopathy · New England Journal of Medicine · 2026
- DAB2 binds to LASP1 to participate in migration and invasion of non-small cell lung cancer through TGF-β/Smad pathway · Journal of the Formosan Medical Association · 2026
- The varied functions of the giant muscle scaffold protein obscurin · Frontiers in Cell and Developmental Biology · 2026
- Predictors of Long-Term Outcomes in Hypertrophic Cardiomyopathy · JAMA · 2026
- Genome-wide association mapping and targeted loss of function studies identify Shroom3 as a driver of hyperpolyploidy and ventricular dilation · Proceedings of the National Academy of Sciences · 2026
- Sarcomere dynamic instability and stochastic heterogeneity drive robust cardiomyocyte contraction · bioRxiv · 2026
- Beyond sarcomere genetics: proteomic insights into hypertrophic cardiomyopathy · Biophysical Reviews · 2026
- Comprehensive clinical assessment as the cornerstone of an accurate diagnosis — hypertrophic cardiomyopathy unmasked by mephedrone exposure in a young male · Kardiologia Polska · 2026
- Prognostic Value of MRI ‐Based Left Ventricular Trabecular Complexity for Sudden Cardiac Death in Hypertrophic Cardiomyopathy · Journal of Magnetic Resonance Imaging · 2026
- Comment on Sklifasovskaya et al. Hypertension and Diabetes Cooperatively Drive HSP90 Activation, HSP70 Suppression, and Left Ventricular Interstitial Expansion: Relevance to Maladaptive Myocardial Remodeling. Pathophysiology 2026, 33, 19 · Pathophysiology · 2026
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