Related Experiment Video

Updated: Jul 19, 2025

Estimating Bilateral Atrial Function by Cardiovascular Magnetic Resonance Feature Tracking in Patients with Paroxysmal Atrial Fibrillation
08:10

Estimating Bilateral Atrial Function by Cardiovascular Magnetic Resonance Feature Tracking in Patients with Paroxysmal Atrial Fibrillation

Published on: July 20, 2022

1.7K

Advanced CMR Techniques in Anderson-Fabry Disease: State of the Art

Andrea Ponsiglione1, Marco De Giorgi1, Raffaele Ascione2

  • 1Department of Advanced Biomedical Sciences, University of Naples Federico II, 80131 Naples, Italy.

Diagnostics (Basel, Switzerland)
|August 12, 2023
PubMed

Insights

Anderson-Fabry disease (AFD) is a rare genetic disorder affecting the heart. Advanced cardiac magnetic resonance (CMR) techniques offer new ways to diagnose and predict cardiac complications in AFD patients.

Area of Science:

  • Cardiology
  • Genetics
  • Medical Imaging

Background:

  • Anderson-Fabry disease (AFD) is a rare, X-linked lysosomal storage disorder.
  • It results from deficient α-galactosidase A enzyme activity.
  • Cardiac involvement, including hypertrophy and fibrosis, leads to arrhythmias, valvular issues, and coronary artery disease.

Purpose of the Study:

  • To review the role of advanced cardiac magnetic resonance (CMR) techniques.
  • To explore their utility as diagnostic and prognostic biomarkers in AFD.
  • To highlight CMR's comprehensive assessment capabilities for cardiac involvement.

Main Methods:

  • Review of current literature on advanced CMR techniques in AFD.
  • Focus on myocardial strain, T1/T2 mapping, perfusion, and hybrid imaging.
  • Assessment of CMR's ability to evaluate cardiac anatomy, function, and tissue characteristics.

Main Results:

  • Advanced CMR techniques provide detailed insights into cardiac pathology in AFD.
  • Myocardial strain, T1/T2 mapping, and perfusion imaging show promise as biomarkers.
  • CMR enables comprehensive, noninvasive assessment of cardiac structure and function.

Conclusions:

  • Advanced CMR techniques are crucial for diagnosing and monitoring cardiac involvement in AFD.
  • These methods offer significant potential as diagnostic and prognostic tools.
  • CMR is the leading noninvasive imaging modality for comprehensive cardiac assessment in AFD.

Keywords:
Anderson-Fabry diseaseT1 mappingT2 mappingcardiac magnetic resonancehybrid imagingperfusion imagingstrain

More Related Videos

Cardiac Magnetic Resonance for the Evaluation of Suspected Cardiac Thrombus: Conventional and Emerging Techniques06:29

Cardiac Magnetic Resonance for the Evaluation of Suspected Cardiac Thrombus: Conventional and Emerging Techniques

Published on: June 11, 2019

10.4K
Noninvasive Assessment of Cardiac Abnormalities in Experimental Autoimmune Myocarditis by Magnetic Resonance Microscopy Imaging in the Mouse12:24

Noninvasive Assessment of Cardiac Abnormalities in Experimental Autoimmune Myocarditis by Magnetic Resonance Microscopy Imaging in the Mouse

Published on: June 20, 2014

10.0K

Related Concept Videos

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...
12
Imaging Studies for Cardiovascular System IV: CMRI01:21

Imaging Studies for Cardiovascular System IV: CMRI

Cardiovascular magnetic resonance imaging, or CMRI, is a non-invasive diagnostic test that employs a magnetic field and radiofrequency waves to create precise images of the heart and arteries. It provides comprehensive information about cardiac anatomy, function, perfusion, and tissue characterization without ionizing radiation.IndicationsCMRI diagnoses various heart conditions, including tissue damage from heart attacks, ischemic heart disease, myocarditis, aortic issues (tears, aneurysms,...
60
Mitral Stenosis II: Clinical features and Diagnostic Tests01:23

Mitral Stenosis II: Clinical features and Diagnostic Tests

Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...
23
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,...
11
Acute Coronary Syndrome III: Diagnostic Studies01:30

Acute Coronary Syndrome III: Diagnostic Studies

Diagnosing acute coronary syndrome or ACS begins with a thorough patient history. Notable symptoms include central, crushing chest pain radiating to the left arm, neck, jaw, or back, along with shortness of breath, sweating (diaphoresis), nausea, vomiting, dizziness, and palpitations.It is crucial to note any history of cardiac illnesses and assess risk factors, including age, gender, smoking, hypertension, diabetes, hyperlipidemia, and a sedentary lifestyle.During physical examination, vital...
10
Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies01:22

Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies

The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
38