📌Fabry Disease Case Study:

 Myomics-Assisted Cardiac MRI Interpretation

🫀Case Overview

A 63-year-old male presented for a follow-up visit to manage Fabry disease, a rare genetic disorder causing cardiac and renal complications. The patient has end-stage renal disease on hemodialysis, a history of mitral valve repair and tricuspid annuloplasty, and a dual-chamber pacemaker due to complete heart block.


📊 Myomics-assisted cardiac MRI Findings

  • LV ejection fraction: 49.9% with left ventricular hypertrophy
  • T1 mapping: Low T1 in the septum, high T1 in the inferolateral wall
  • ECV mapping: Elevated in the inferolateral wall (suggesting fibrosis)
  • Late Gadolinium Enhancement (LGE): 7.7% of LV myocardium, indicating scarring


🔬 Clinical Impact & Takeaways

  • Enzyme Replacement Therapy (ERT) is key for disease management, and Myomics’ automated analysis helps in early intervention decisions.
  • Arrhythmia risk monitoring is guided by precise LGE quantification, aiding in timely therapy adjustments.
  • Myomics streamlines workflow, reducing interpretation time while enhancing diagnostic accuracy.


📢 User's Comment

Myomics enables AI-powered, automated cardiac MRI analysis—providing faster, more precise insights for Fabry disease.




Written by BW Choi, Radiologist