Related Experiment Video
Updated: Jun 6, 2026
06:48
Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
When should cardiologists suspect Anderson-Fabry disease?
Fabiana I Gambarin1, Eliana Disabella, Jagat Narula
1Centre for Inherited Cardiovascular Diseases, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
The American Journal of Cardiology
|November 10, 2010
Summary
Anderson-Fabry disease, a genetic disorder, involves enzyme defects and lipid buildup. Early diagnosis through genetic testing enables enzyme replacement therapy, improving cardiac and noncardiac symptoms.
Area of Science:
- Genetics
- Metabolic Disorders
- Cardiology
Background:
- Anderson-Fabry disease is a rare lysosomal storage disorder.
- It results from alpha-galactosidase enzyme deficiency, leading to globotriaosylceramide accumulation.
- Both men and women can develop cardiac complications, with variable severity in women.
Purpose of the Study:
- To summarize the key features of Anderson-Fabry disease.
- To highlight diagnostic markers and challenges.
- To emphasize the benefits of early, specific treatment.
Main Methods:
- Review of clinical presentation, diagnostic criteria, and treatment options.
- Analysis of cardiac and extracardiac manifestations.
- Discussion of diagnostic modalities including ECG, biopsy, and genetic testing.
Main Results:
- Characteristic cardiac findings include short PR interval, prolonged QRS, arrhythmias, and left ventricular hypertrophy.
- Extracardiac signs involve renal, neurological, and gastrointestinal systems.
- Diagnosis is often delayed due to subtle symptoms, with genetic testing being definitive.
Conclusions:
- Timely diagnosis of Anderson-Fabry disease is crucial.
- Enzyme replacement therapy offers significant clinical benefits.
- Early detection improves patient outcomes for both cardiac and noncardiac manifestations.
Related Concept Videos
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,...
01:23Rheumatic 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...
01:25Cardiomyopathy 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...
01:29Cardiomyopathy 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...
01:27Atherosclerosis II: Clinical Manifestations and Diagnostic Tests
Atherosclerosis is a progressive disorder that leads to the thickening and narrowing of arterial walls due to plaque buildup. This condition can cause various symptoms depending on the arteries affected:Coronary Artery Disease (CAD): This condition affects the coronary arteries and may lead to chest pain (angina), shortness of breath (dyspnea), heart attacks, and other heart disease symptoms.Cerebrovascular Disease: This affects blood flow to the brain, causing transient ischemic attacks (TIAs)...