Related Experiment Video

Updated: Jul 3, 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

Cardiovascular testing in Fabry disease: exercise capacity reduction, chronotropic incompetence and improved

T Lobo1, J Morgan, A Bjorksten

  • 1Department of Nephrology, Royal Melbourne Hospital, Melbourne, Victoria, Australia.

Internal Medicine Journal
|July 11, 2008
PubMed

Insights

Enzyme replacement therapy (ERT) in Fabry disease showed a small improvement in anaerobic threshold within the first year. However, exercise capacity remained reduced, particularly in male patients.

Area of Science:

  • Cardiology
  • Genetics
  • Metabolic Diseases

Background:

  • Fabry disease significantly impacts the cardiovascular system.
  • Previous research primarily focused on electrocardiogram (ECG) and echocardiogram (ECHO) findings.
  • Exercise capacity offers an integrated measure of cardiovascular health and treatment efficacy.

Purpose of the Study:

  • To assess exercise capacity and serial ECG/ECHO findings in Australian Fabry disease patients.
  • To evaluate the impact of enzyme replacement therapy (ERT) on these parameters.

Main Methods:

  • 38 Fabry disease patients (30 men, 8 women) underwent regular ECGs and annual ECHO.
  • Bicycle stress tests with VO2 max and 6-minute walk tests were performed.
  • Data analysis correlated findings with ERT history.

Main Results:

  • 70% of patients met ECG criteria for left ventricular hypertrophy (LVH); 64% had LVH on ECHO (80% of men).
  • Exercise capacity was reduced compared to normative data.
  • A mild improvement in anaerobic threshold was observed in the first year of ERT, but VO2 max did not significantly change.

Conclusions:

  • Male Fabry disease patients exhibited impaired exercise capacity, unable to reach predicted maximal heart rates.
  • ERT demonstrated a modest benefit on anaerobic threshold within the initial year of treatment.
Abstract

More Related Videos

Exercise Test for Evaluation of the Functional Efficacy of the Pig Cardiovascular System02:47

Exercise Test for Evaluation of the Functional Efficacy of the Pig Cardiovascular System

Published on: May 12, 2023

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

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 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...
Heart Failure V: Medical Management01:30

Heart Failure V: Medical Management

Medical Management of Acute Decompensated Heart Failure (ADHF)The primary goals of therapy for patients hospitalized with acute decompensated heart failure (ADHF) include:Relieving symptomsOptimizing volume statusSupporting oxygenation and ventilationMaintaining cardiac output (CO) and end-organ perfusionIdentifying and addressing the cause of ADHFPreventing complicationsProviding patient education on factors precipitating HF exacerbationPlanning for dischargeOngoing monitoring and assessment...
Exercise and Cardiovascular Response01:20

Exercise and Cardiovascular Response

Exercise significantly impacts cardiovascular response, which is crucial for understanding patient health and designing effective treatment plans.
Light to moderate physical activity initiates a series of interconnected responses in the body. The heart rate modestly increases in anticipation of the workout, followed by widespread vasodilation as oxygen consumption by skeletal muscles increases. This results in decreased peripheral resistance, increased capillary blood flow, and accelerated...
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...
Exercise and Cardiac Output01:17

Exercise and Cardiac Output

Regular physical activity is essential for maintaining cardiovascular health, with aerobic exercises being particularly effective. According to the American Heart Association, 150 minutes of moderate to intense aerobic exercise per week is recommended for a healthy heart. Aerobic activities may include brisk walking, running, bicycling, cross-country skiing, and swimming, ideally performed three to five times per week.
Sustained exercise increases the muscles' oxygen demand, which can be met...