Related Experiment Video
Updated: Apr 16, 2026
10:16
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
8.7K
Fabry disease--a primer for cardiologists.
Summary
Fabry disease, a genetic disorder, affects multiple organs, especially the heart. Early screening and enzyme replacement therapy are crucial for managing cardiac symptoms and preventing irreversible fibrosis.
Area of Science:
- Genetics and rare diseases
- Cardiology
- Metabolic disorders
Background:
- Fabry disease is an X-linked lysosomal storage disorder resulting from alpha-galactosidase A deficiency.
- It is a systemic condition impacting kidneys, heart, and brain, with cardiac involvement often manifesting as left ventricular hypertrophy.
Purpose of the Study:
- To review the systemic features of Fabry disease.
- To emphasize the importance of early cardiac involvement screening and timely intervention.
Main Methods:
- Literature review focusing on Fabry disease.
- Analysis of clinical presentations, diagnostic considerations, and treatment strategies.
Main Results:
- Cardiac involvement is a significant manifestation requiring cardiologist attention.
- Early screening is vital as treatment benefits diminish with established cardiac fibrosis.
Conclusions:
- Screening for Fabry disease is beneficial in specific populations like ESRD patients or young stroke victims.
- Enzyme replacement therapy can reverse abnormalities and should be initiated for symptomatic patients.
Related Concept Videos
01:25Cardiomyopathy I: Introduction and Classification
869
Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
869
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
801
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
801
01:30Cardiomyopathy II: Dilated Cardiomyopathy
805
Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
805
01:29Cardiomyopathy IV: Restrictive Cardiomyopathy
920
Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
920
01:23Cystic Fibrosis: Pathogenesis
1.1K
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
1.1K
01:21Myocarditis I: Introduction
622
Myocarditis is inflammation of the myocardium, which is the muscular layer of the heart.EtiologyMyocarditis has a diverse etiology, including a wide range of infectious and non-infectious causes:Infectious CausesViral: Common viruses include Coxsackie A and B, adenovirus, parvovirus B19, enteroviruses, and influenza A.Bacterial: Examples include infections caused by Streptococcus, Staphylococcus, and Mycoplasma species.Rickettsial: Infections like Rocky Mountain spotted fever can result in...
622