Abstract
Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency. The intracellular storage of globotriaosylceramides in different tissues and organs leads to a multisystemic disease affecting kidneys, nervous system and the heart. Fabry cardiomyopathy is frequent and leads to concentric left-ventricular hypertrophy. Typical pattern in advanced stages is myocardial replacement fibrosis, first localized to mid myocardial layers of postero-lateral basal myocardium and then spreading to transmural fibrosis.Long term prognosis is dependent on timely initiation of specific and concomitant therapies, while therapy in advanced stages is only able to stabilize the organ affection.
This review describes the characteristics of Fabry cardiomyopathy, shows the clinical assessment of cardiac involvement and highlights therapeutic issues aiming at the best outcome for patients with Fabry disease.
Keywords: Fabry disease, cardiomyopathy, monitoring, treatment.
Current Pharmaceutical Design
Title:The Fabry Cardiomyopathy - Diagnostic Approach and Current Treatment
Volume: 21 Issue: 4
Author(s): Frank Weidemann, Georg Ertl, Christoph Wanner and Johannes Krämer
Affiliation:
Keywords: Fabry disease, cardiomyopathy, monitoring, treatment.
Abstract: Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency. The intracellular storage of globotriaosylceramides in different tissues and organs leads to a multisystemic disease affecting kidneys, nervous system and the heart. Fabry cardiomyopathy is frequent and leads to concentric left-ventricular hypertrophy. Typical pattern in advanced stages is myocardial replacement fibrosis, first localized to mid myocardial layers of postero-lateral basal myocardium and then spreading to transmural fibrosis.Long term prognosis is dependent on timely initiation of specific and concomitant therapies, while therapy in advanced stages is only able to stabilize the organ affection.
This review describes the characteristics of Fabry cardiomyopathy, shows the clinical assessment of cardiac involvement and highlights therapeutic issues aiming at the best outcome for patients with Fabry disease.
Export Options
About this article
Cite this article as:
Weidemann Frank, Ertl Georg, Wanner Christoph and Krämer Johannes, The Fabry Cardiomyopathy - Diagnostic Approach and Current Treatment, Current Pharmaceutical Design 2015; 21 (4) . https://dx.doi.org/10.2174/138161282104141204142643
DOI https://dx.doi.org/10.2174/138161282104141204142643 |
Print ISSN 1381-6128 |
Publisher Name Bentham Science Publisher |
Online ISSN 1873-4286 |
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
- Announcements
Related Articles
-
The Prostaglandin Agonist Beraprost Aggravates Doxorubicin-mediated Apoptosis by Increasing iNOS Expression in Cardiomyocytes
Current Vascular Pharmacology CD36 as a Multiple-Ligand Signaling Receptor in Atherothrombosis
Cardiovascular & Hematological Agents in Medicinal Chemistry Molecular Signature of Human amniotic Fluid Stem Cells During Fetal Development
Current Stem Cell Research & Therapy Interferon Treatment in Patients with Hypereosinophilia
Current Drug Targets Electrocardiographic Abnormalities in Thalassemia Patients with Heart Failure
Cardiovascular & Hematological Disorders-Drug Targets Recent Advance in Isoform-Specific Regulation of Adenylyl Cyclase
Current Enzyme Inhibition Editorial: Modifying Cardiovascular Risk Factors: Acquired Topics and Emerging Concepts
Current Pharmaceutical Design Coated with Nanomaterials Intraocular Lenses, Ophthalmic and Human Body Implantable Devices with High Catalytic Antioxidant Activities: A New Nanotechnology Strategy of Peroxidase Cellular Enzyme Mimics Increasing the Biocompatibility and Therapeutic Deployment of the Medical Prosthetic Device
Recent Patents on Drug Delivery & Formulation Generation of Human Cardiomyocytes for Cardiac Regenerative Therapies: Differentiation and Direct Reprogramming
Current Pharmaceutical Design Strategy for a Genetic Assessment of Antipsychotic and Antidepressant- Related Proarrhythmia
Current Medicinal Chemistry Current Biology of MTP: Implications for Selective Inhibition
Current Topics in Medicinal Chemistry Review on Patents for Ubiquitin-Proteasome Inhibitor as Medical Advance in Major Human Diseases
Recent Patents on Biomedical Engineering (Discontinued) Sepsis-induced Cardiomyopathy
Current Cardiology Reviews Hypertension and Cardiac Arrhythmias
Current Pharmaceutical Design Antiarrhythmic Potential of Drugs Targeting the Cardiac Ryanodine Receptor Ca<sup>2+</sup> Release Channel: Case Study of Dantrolene
Current Pharmaceutical Design 5-Adenosine Monophosphate-Activated Protein Kinase and the Metabolic Syndrome
Endocrine, Metabolic & Immune Disorders - Drug Targets Urocortins: Putative Role in Cardiovascular Disease
Current Medicinal Chemistry - Cardiovascular & Hematological Agents Editorial (Thematic Issues: Pharmacological Mechanisms and Interventions in Ischemia/ Reperfusion-Induced Injury)
Current Pharmaceutical Design Patient-Specific Induced Pluripotent Stem Cell Models in Mitochondrial Diseases
Current Stem Cell Research & Therapy Ring Finger Ubiquitin Protein Ligases and Their Implication to the Pathogenesis of Human Diseases
Current Pharmaceutical Design