Related Experiment Video

Updated: Jun 20, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

Cardiac challenges in patients with Fabry disease

F Weidemann1, A Linhart, L Monserrat

  • 1Department of Medicine I, Center of Cardiovascular Medicine, Würzburg, Germany. weidemann_f@medizin.uni-wuerzburg.de

International Journal of Cardiology
|September 2, 2009
PubMed

Insights

Fabry disease, a genetic disorder causing heart problems, requires early diagnosis for effective enzyme replacement therapy (ERT). Identifying Fabry cardiomyopathy in at-risk patients can lead to timely intervention and improved outcomes.

Area of Science:

  • Cardiology
  • Genetics
  • Metabolic Disorders

Background:

  • Fabry disease is an X-linked lysosomal storage disorder.
  • It is a significant cause of hypertrophic cardiomyopathy (HCM), leading to heart failure and arrhythmias.
  • The complex pathophysiology of Fabry cardiomyopathy is not fully understood.

Purpose of the Study:

  • To emphasize the importance of early diagnosis for Fabry disease.
  • To highlight the role of enzyme replacement therapy (ERT) in managing Fabry cardiomyopathy.
  • To promote screening of at-risk cardiology patients for Fabry disease.

Main Methods:

  • Enzymatic assays for early detection of Fabry disease.
  • Genetic testing to confirm Fabry disease diagnosis.
  • Cardiac evaluation of patients with hypertrophic cardiomyopathy (HCM) of unknown origin.

Main Results:

  • Early diagnosis of Fabry disease allows for timely intervention with ERT.
  • Screening HCM patients may identify undiagnosed Fabry disease cases.
  • Identifying affected family members through genetic mapping is possible.

Conclusions:

  • Early diagnosis and intervention are crucial for managing Fabry disease and its cardiac manifestations.
  • ERT is most effective when initiated before significant cardiac hypertrophy or fibrosis develops.
  • Screening selected cardiology patients can improve outcomes for individuals with Fabry disease.

More Related Videos

Scanning Electron Microscopy of Macerated Tissue to Visualize the Extracellular Matrix10:21

Scanning Electron Microscopy of Macerated Tissue to Visualize the Extracellular Matrix

Published on: June 14, 2016

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle09:40

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle

Published on: January 19, 2017

Related Concept Videos

Imbalances in Cardiac Output01:26

Imbalances in Cardiac Output

The heart's primary function is to pump blood throughout the body, maintaining a balance between blood sent out (cardiac output) and blood returning (venous return). If this balance is disrupted, it can result in congestive heart failure (CHF), a severe condition where the heart becomes an inefficient pump, leading to inadequate blood circulation.
CHF can occur due to the failure of either side of the heart. Left-side failure leads to pulmonary congestion—the right side continues to send blood...
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy 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,...
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy 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...
Cardiomyopathy VI: Nursing Management01:29

Cardiomyopathy VI: Nursing Management

Assessment: Nursing management of patients with cardiomyopathy begins with a thorough assessment of the patient's history, including a family history of cardiomyopathy or sudden cardiac death, personal history of heart disease, hypertension, diabetes, and any alcohol consumption or drug use.During the physical examination, assess vital signs, look for signs of heart failure (such as edema, jugular venous distention, and cyanosis), auscultate for abnormal heart sounds (like murmurs and gallops),...
Cardiomyopathy V: Interprofessional Care01:29

Cardiomyopathy V: Interprofessional Care

Managing cardiomyopathy involves addressing underlying or precipitating causes, treating heart failure with medications, and implementing dietary changes and a balanced exercise and rest regimen.Lifestyle ModificationsCardiomyopathy patients should adopt a low-sodium diet to reduce fluid retention and manage heart failure. A personalized exercise and rest plan helps maintain physical fitness without overstraining the heart. Avoiding alcohol and tobacco is essential to prevent further damage to...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy 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...