SynthesisProgress in cardiovascular diseases
Fabry disease cardiomyopathy: A state-of-the-art review.
Synthesis in Progress in cardiovascular diseases. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Immunology of heart failure with preserved ejection fraction.Expert review of clinical immunology · 2025Pooled it
- Review
- Long-Term Cardiac Remodeling During Migalastat Therapy in a Heterozygote Woman With Fabry Disease (N224S): A 9 Year Case Report.The American journal of case reports · 2026Article
- Article
- Established and emerging roles of lysosomal dysfunction in cardiac aging.Nature cardiovascular research · 2026Review
- Supranormal Ejection Fraction as a Clinical Red Flag: Differentiating Hemodynamic Stress From Intrinsic Cardiomyopathy in Heart Failure.Mayo Clinic proceedings. Innovations, quality & outcomes · 2026Article
- Autophagy-Lysosomal Dysfunction as a Converging Mechanism of Cardiomyopathy in Lysosomal Storage Disorders: From Pathobiology to Targeted Therapy.International journal of molecular sciences · 2026Review
- A proteomic atlas phenotyping Fabry disease identifies a precise cardiovascular risk signature that integrates mitochondrial and lysosomal pathways.Journal of molecular medicine (Berlin, Germany) · 2026Review
- Exploring a plasma proteomic biosignature associated with cardiac involvement in Fabry disease.Journal of molecular medicine (Berlin, Germany) · 2026Article
- Fabry cardiomyopathy presenting as hypertrophic phenotype with left ventricular outflow tract obstruction: a case series.Frontiers in cardiovascular medicine · 2026Article
- Case Report: Is it COPD? It is Fabry disease: a case in which bronchodilators were briefly used but not continued, prioritizing enzyme replacement therapy.Frontiers in pharmacology · 2026Article
- Clinical outcomes of agalsidase Beta (fabrazyme) in Chinese fabry disease patients with proteinuria: a case series.Frontiers in pediatrics · 2026Article
- Pathogenic mechanisms in Fabry disease.Frontiers in medicine · 2026Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors.
Funding
Abstract
Fabry disease or Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A (GLA), leading to systemic accumulation of globotriaosyl-ceramide (Gb3). Initially described in 1898 as a dermatological condition, Fabry disease is now recognized as a progressive multisystem disorder with significant cardiac involvement. Cardiomyopathy in Fabry disease arises from Gb3 accumulation in cardiac tissue, resulting in fibrosis, left ventricular hypertrophy (LVH), diastolic dysfunction, and heart failure. The deacylated derivative, lysoGb3, serves as a biomarker of cardiac involvement. Diagnosis relies on enzyme assays, genetic testing, and advanced cardiac imaging modalities like echocardiography and cardiac MRI. Management strategies are centered around enzyme replacement therapy, and prognosis varies due to phenotypic heterogeneity and severity of disease progression. Psychological and social burdens further complicate patient care. However, underdiagnosis remains a concerning issue, particularly in individuals with unexplained cardiomyopathies. Early recognition through increased clinical awareness and genetic screening is crucial for timely intervention. Ongoing research is essential to develop new therapies targeting the genetic and metabolic roots of the disease. This systematic review comprehensively examines current evidence regarding the mechanisms, diagnosis, treatment, and prognosis of cardiomyopathy associated with Fabry disease, providing insights that may enhance clinical practice and guide future research initiatives.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.