Fabry Video Library

Watch a series of educational videos and case studies

Dr Hong - Role of Echocardiogram in Fabry Disease
47:22
Dr Kozor - Role of Cardiac MRI in Fabry Disease
58:34
Dr Pieroni - Watch Out for the Red Flags for Fabry Disease to Avoid Missing the Diagnosis
4:15
Dr Lee - Genetic Information in Patients with Myocardial Hypertrophy
31:28
Dr Pieroni - Challenges in Cardiology during the COVID-19 Pandemic
58:26
Dr Kozor - What Can T1 Mapping Tell Us About Cardiac Structure and Function in Fabry Disease?
06:27
Dr Kozor - How Can Papillary Muscles Differentiate Hypertrophic Hearts in Fabry Disease?
02:54
Dr Kozor - What is the Significance of LGE in Fabry Disease?
02:24
Dr Kozor - What Can CMR Tell Us About Patients with Fabry Disease?
02:14

Testing & Diagnosis

Diagnosis of Fabry disease is often delayed and patients usually visit several medical specialists before a correct diagnosis is made.1 Recent data suggests that the overall diagnostic delay for patients with Fabry disease is around 15 years.1 The initial screening assay can be done by the suspecting specialist.

References

  1. 1.Germain DP. (2010) Fabry disease. Orphanet J Rare Dis 5: 30.