ArticleThe American journal of pathology2008
Myofilament degradation and dysfunction of human cardiomyocytes in Fabry disease.
Article in The American journal of pathology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 64 citations in OpenAlex.
- Organelle network dysfunction in primary cardiomyopathy: An integrated perspective on pathogenesis and therapeutics.Journal of molecular and cellular cardiology plus · 2026Review
- Nucleoside-Modified mRNA Encoding Alpha-Galactosidase A Ameliorates Fabry Disease Phenotypes in Human IPSC-Derived Cardiomyocytes.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Sphingolipidoses: expanding the spectrum of α-synucleinopathies.Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- Diagnostic performance of native T1 in grading histologically proven myocardial glycosphingolipid accumulation in Fabry disease.Insights into imaging · 2026Article
- Two diseases presenting only as cardiac hypertrophy: differences between the late-onset Fabry disease cardiac variant and hypertrophic cardiomyopathy.BMC cardiovascular disorders · 2026Article
- Squamate ventricular cardiomyocytes: Ploidy, proliferation, and heart muscle cell size in the leopard gecko (Eublepharis macularius).Developmental dynamics : an official publication of the American Association of Anatomists · 2025Article
- Fabry Cardiomyopathy: Myocardial Fibrosis, Inflammation, and Down-Regulation of Mannose-6-Phosphate Receptors Cause Low Accessibility to Enzyme Replacement Therapy.Journal of the American Heart Association · 2025Article
- 2024 Update of the TSOC Expert Consensus of Fabry Disease.Acta Cardiologica Sinica · 2024Article
- Contemporary Multimodality Imaging for Diagnosis and Management of Fabry Cardiomyopathy.Journal of clinical medicine · 2024Review
- Arrhythmogenesis in Fabry Disease.Current cardiology reports · 2024Review
- Clinical staging of Anderson-Fabry cardiomyopathy: An operative proposal.Heart failure reviews · 2024Review
- Cardiac involvement in Anderson-Fabry disease. The role of advanced echocardiography.Frontiers in cardiovascular medicine · 2024Review
- An optimized approach to study nanoscale sarcomere structure utilizing super-resolution microscopy with nanobodies.PloS one · 2024Article
- Updated Evaluation of Agalsidase Alfa Enzyme Replacement Therapy for Patients with Fabry Disease: Insights from Real-World Data.Drug design, development and therapy · 2024Review
- ECG Changes during Adult Life in Fabry Disease: Results from a Large Longitudinal Cohort Study.Diagnostics (Basel, Switzerland) · 2023Article
- An Overview of Molecular Mechanisms in Fabry Disease.Biomolecules · 2022Review
- The Heart in Fabry Disease: Mechanisms Beyond Storage and Forthcoming Therapies.Reviews in cardiovascular medicine · 2022Review
- 2021 TSOC Expert Consensus on the Clinical Features, Diagnosis, and Clinical Management of Cardiac Manifestations of Fabry Disease.Acta Cardiologica Sinica · 2021Review
- Focal reduction in left ventricularJournal of nuclear cardiology : official publication of the American Society of Nuclear Cardiology · 2021Article
- Fabry Disease with Pacemaker Implantation as the Initial Event.Internal medicine (Tokyo, Japan) · 2019Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
Abstract
Early detection of myocardial dysfunction in Fabry disease (FD) cardiomyopathy suggests the contribution of myofilament structural alterations. Six males with untreated FD cardiomyopathy submitted to cardiac studies, including tissue Doppler imaging and left ventricular endomyocardial biopsy. Active and resting tensions before and after treatment with protein kinase A (PKA) were determined in isolated Triton-permeabilized cardiomyocytes. Cardiomyocyte cross-sectional area, glycosphingolipid vacuole area, myofibrillolysis, and extent of fibrosis were also determined. Biopsies of mitral stenosis in patients with normal left ventricles served as controls. Active tension was four times lower in FD cardiomyocytes and correlated with extent of myofibrillolysis. Resting tension was six times higher in FD cardiomyocytes than in controls. PKA treatment decreased resting tension but did not affect active force. Protein analysis revealed troponin I and desmin degradation products. FD cardiomyocytes were significantly larger and filled with glycosphingolipids. Fibrosis was mildly increased compared with controls. Tissue Doppler imaging lengthening and shortening velocities were reduced in FD cardiomyocytes compared with controls, correlating with resting and active tensions, respectively, but not with cardiomyocyte area, percentage of glycosphingolipids, or extent of fibrosis. In conclusion, myofilament degradation and dysfunction contribute to FD cardiomyopathy. Partial reversal of high resting tension after pharmacological PKA treatment of cardiomyocytes suggests potential benefits from enzyme replacement therapy and/or energy-releasing agents.
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