Cardiac magnetic resonance imaging in Fabry disease

Area of Science:

• Cardiology
• Genetics
• Medical Imaging

Background:

• Fabry disease (FD) is a rare X-linked lysosomal storage disorder.
• Cardiac involvement is common in FD, often presenting as left ventricular hypertrophy.
• Differentiating FD cardiomyopathy from other hypertrophic conditions can be difficult, particularly without extracardiac signs.

Purpose of the Study:

• To review the characteristic cardiac MRI features of Fabry disease cardiomyopathy.
• To improve awareness of FD among clinicians managing unexplained cardiomyopathies.
• To emphasize the role of cardiac MRI in early detection and monitoring of FD.

Main Methods:

• Review of existing literature and imaging studies on Fabry disease cardiomyopathy.
• Focus on characteristic findings in cardiac magnetic resonance imaging (MRI).
• Analysis of how MRI aids in quantitative and qualitative assessment of cardiac involvement.

Main Results:

• Cardiac MRI is essential for assessing FD cardiomyopathy.
• MRI can detect subclinical cardiac phenotypes and monitor disease progression.
• Characteristic imaging features help distinguish FD cardiomyopathy.

Conclusions:

• Cardiac MRI is vital for diagnosing and managing Fabry disease cardiomyopathy.
• Early detection through MRI facilitates timely enzyme replacement therapy.
• Increased awareness of FD's cardiac manifestations is needed for improved patient outcomes.