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 |
Call for Papers in Thematic Issues
"Tuberculosis Prevention, Diagnosis and Drug Discovery"
The Nobel Prize-winning discoveries of Mycobacterium tuberculosis and streptomycin have enabled an appropriate diagnosis and an effective treatment of tuberculosis (TB). Since then, many newer diagnosis methods and drugs have been saving millions of lives. Despite advances in the past, TB is still a leading cause of infectious disease mortality ...read more
Current Pharmaceutical challenges in the treatment and diagnosis of neurological dysfunctions
Neurological dysfunctions (MND, ALS, MS, PD, AD, HD, ALS, Autism, OCD etc..) present significant challenges in both diagnosis and treatment, often necessitating innovative approaches and therapeutic interventions. This thematic issue aims to explore the current pharmaceutical landscape surrounding neurological disorders, shedding light on the challenges faced by researchers, clinicians, and ...read more
Emerging and re-emerging diseases
Faced with a possible endemic situation of COVID-19, the world has experienced two important phenomena, the emergence of new infectious diseases and/or the resurgence of previously eradicated infectious diseases. Furthermore, the geographic distribution of such diseases has also undergone changes. This context, in turn, may have a strong relationship with ...read more
Melanoma and Non-Melanoma Skin Cancer Treatment: Standard of Care and Recent Advances
In this thematic issue, we aim to provide a standard of care of the diagnosis and treatment of melanoma and non-melanoma skin cancer. The editor will invite authors from different countries who will write review articles of melanoma and non-melanoma skin cancers. The Diagnosis, Staging, Surgical Treatment, Non-Surgical Treatment all ...read more
- 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
-
Crosstalk between Oxidative and Nitrosative Stress and Arterial Stiffness
Current Vascular Pharmacology Cardiac Aging and Insulin Resistance: Could Insulin/Insulin-Like Growth Factor (IGF) Signaling be used as a Therapeutic Target?
Current Pharmaceutical Design Auto-Antibodies As Possible Markers and Mediators of Ischemic, Dilated, and Rhythmic Cardiopathies
Current Drug Targets The Chaperone-like Activity of Rat HspB8/Hsp22 and Dynamic Molecular Transition Related to Oligomeric Architectures In Vitro
Protein & Peptide Letters Prevalence of Dilated Cardiomyopathy in HIV-Infected African Patients Not Receiving HAART: A Multicenter, Observational, Prospective, Cohort Study in Rwanda
Current HIV Research Preclinical Development of New Therapy for Glycogen Storage Diseases
Current Gene Therapy Urotensin-II Receptor: A Double Identity Receptor Involved in Vasoconstriction and in the Development of Digestive Tract Cancers and other Tumors
Current Cancer Drug Targets Editorial [News in Therapy of Cardiomyopathy (Executive Editor: Giovanni Fazio)]
Current Pharmaceutical Design Link between Metabolic Syndrome and Insulin Resistance
Current Vascular Pharmacology Molecular Mechanisms of Inherited Arrhythmias
Current Genomics The Future of Collateral Artery Research
Current Cardiology Reviews The TOLL-like / Type-I Interferon Pathways as Emerging Therapeutic Targets for Autoimmune Diseases
Drug Design Reviews - Online (Discontinued) The Evolving Therapy of Rheumatic Diseases, The Future is Now
Current Drug Targets - Immune, Endocrine & Metabolic Disorders Mitochondrially Targeted Antioxidants for the Treatment of Cardiovascular Diseases
Recent Patents on Cardiovascular Drug Discovery Long Noncoding RNA OIP5-AS1 Overexpression Promotes Viability and Inhibits High Glucose-Induced Oxidative Stress of Cardiomyocytes by Targeting MicroRNA-34a/SIRT1 Axis in Diabetic Cardiomyopathy
Endocrine, Metabolic & Immune Disorders - Drug Targets Targeting the Inflammatory Response in Healing Myocardial Infarcts
Current Medicinal Chemistry Mesenchymal Stem Cell Therapy for Acetaminophen-related Liver Injury: A Systematic Review and Meta-analysis of Experimental Studies <i>In Vivo</i>
Current Stem Cell Research & Therapy Expression and Functions of Heat Shock Proteins in the Normal and Pathological Mammalian Eye
Current Molecular Medicine Multidrug Resistance Associated Proteins as Determining Factors of Pharmacokinetics and Pharmacodynamics of Drugs
Current Drug Metabolism Gene Clusters, Molecular Evolution and Disease: A Speculation
Current Genomics