Fabry Disease - New Advances in Diagnosis and Therapy

Explore the latest advancements in diagnosing and treating Fabry disease in this 56-minute MonteHeart Lecture. Delve into the basic biology, genetics, and pathophysiology of this lysosomal storage disorder, with a focus on its impact on key organs, particularly the heart. Learn about the various symptoms and signs, including skin manifestations, ocular involvement, nephropathy, and cardiac disease. Examine the main clinical cardiac manifestations, such as thick myocardium, arrhythmias, and LGE patterns in thick hearts, while understanding the progression and stages of Fabry cardiomyopathy. Discover current treatment strategies, including gene therapy, and gain insights into cardiac and supportive management approaches. Conclude with an overview of genetic testing and its importance in diagnosing Fabry disease.

Intro
What is Fabry disease
Over 50 lysosomal storage diseases, many affect the heart
Basic Biology
Mutations
Genetics
Key organs involved
Symptoms & Signs
Skin manifestations
Ocular involvement
Nephropathy
Cardiac disease
Pathophysiology
Main clinical cardiac manifestations
Thick Myocardium
Arrhythmias
LGE patterns in thick hearts
Progression of Fabry cardiomyopathy
Stages of Cardiomyopathy
Microvascular disease
Cardiac & supportive management
Rx strategies
Gene therapy
Conclusions
Genetic testing