Fabry Disease - New Advances in Diagnosis and Therapy

Fabry Disease - New Advances in Diagnosis and Therapy

MonteHeart Lectures via YouTube Direct link

Basic Biology

4 of 25

4 of 25

Basic Biology

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Classroom Contents

Fabry Disease - New Advances in Diagnosis and Therapy

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  1. 1 Intro
  2. 2 What is Fabry disease
  3. 3 Over 50 lysosomal storage diseases, many affect the heart
  4. 4 Basic Biology
  5. 5 Mutations
  6. 6 Genetics
  7. 7 Key organs involved
  8. 8 Symptoms & Signs
  9. 9 Skin manifestations
  10. 10 Ocular involvement
  11. 11 Nephropathy
  12. 12 Cardiac disease
  13. 13 Pathophysiology
  14. 14 Main clinical cardiac manifestations
  15. 15 Thick Myocardium
  16. 16 Arrhythmias
  17. 17 LGE patterns in thick hearts
  18. 18 Progression of Fabry cardiomyopathy
  19. 19 Stages of Cardiomyopathy
  20. 20 Microvascular disease
  21. 21 Cardiac & supportive management
  22. 22 Rx strategies
  23. 23 Gene therapy
  24. 24 Conclusions
  25. 25 Genetic testing

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