Related Experiment Video
Updated: May 20, 2026
10:21
Scanning Electron Microscopy of Macerated Tissue to Visualize the Extracellular Matrix
Published on: June 14, 2016
Cardiac involvement in Anderson-Fabry disease.
Filippo Maria Cauti1, Constantinos O'Mahony, Antonis Pantazis
1Cardiology Department, University of Rome Sapienza, Rome, Italy. filippocauti@hotmail.it
BMJ Case Reports
|July 7, 2012
Summary
Anderson-Fabry disease (AFD) can cause cardiac symptoms like left ventricular hypertrophy. Early diagnosis and treatment with recombinant enzyme are crucial, even though complications like arrhythmias may occur.
Area of Science:
- Cardiology
- Genetics
- Metabolic Disorders
Background:
- Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder.
- It results from mutations in the GLA gene, leading to deficient alpha-galactosidase A activity.
- Cardiac involvement, including left ventricular hypertrophy (LVH), is a significant manifestation.
Observation:
- A 50-year-old normotensive male presented with cardiac symptoms attributed to LVH.
- His condition was diagnosed as AFD, stemming from a GLA gene mutation.
- The patient experienced arrhythmias during recombinant enzyme replacement therapy, necessitating an implantable cardioverter-defibrillator.
Findings:
- Cardiac symptoms in this patient were directly linked to Anderson-Fabry disease.
- Recombinant enzyme therapy, while initiated, did not prevent complications such as arrhythmias.
- The case highlights the complex clinical course of AFD, even with treatment.
Implications:
- This case underscores the importance of considering AFD in patients with unexplained LVH and cardiac symptoms.
- Availability of effective treatments for AFD emphasizes the need for timely diagnosis.
- Early recognition facilitates screening of at-risk family members, potentially preventing severe complications.
Related Concept Videos
01:23Rheumatic Heart Disease I: Introduction
Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
01:30Cardiomyopathy II: Dilated Cardiomyopathy
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,...
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
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...
01:29Cardiomyopathy IV: Restrictive Cardiomyopathy
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...
01:25Cardiomyopathy I: Introduction and Classification
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...
01:21Myocarditis I: Introduction
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...