Cardiac involvement in Anderson-Fabry disease. The role of advanced echocardiography

Area of Science:

• Cardiology
• Genetics
• Medical Imaging

Background:

• Anderson-Fabry disease (AFD) is a rare lysosomal storage disorder caused by alpha-galactosidase A deficiency due to a mutation in the alpha-galactosidase gene.
• Cardiovascular complications are the primary cause of mortality in AFD patients, necessitating effective diagnostic tools.

Purpose of the Study:

• To review the role and future potential of advanced ultrasound imaging techniques in evaluating cardiac involvement in AFD.
• To highlight the significance of echocardiography in diagnosing AFD cardiomyopathy and assessing myocardial function.

Main Methods:

• Review of current literature on echocardiography and advanced ultrasound imaging in Anderson-Fabry disease.
• Focus on techniques assessing myocardial deformation (strain imaging) for functional evaluation.

Main Results:

• Echocardiography is the primary imaging method for detecting characteristic AFD cardiomyopathy features.
• Advanced echocardiography, particularly strain imaging, provides crucial information on cardiac functional status in AFD.

Conclusions:

• Advanced ultrasound imaging, including strain echocardiography, is essential for comprehensive cardiac assessment in AFD.
• These techniques offer valuable insights for patient management and monitoring of cardiovascular involvement in AFD.