Fabry Disease on Echo: The Heart Hides a Secret! 🫀🔍
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YouTubeThe Rare Disease Chronicles
Fabry Disease on Echo: The Heart Hides a Secret! 🫀🔍
This is the echocardiogram of a patient with Fabry disease. Notice the concentric left ventricular hypertrophy (LVH)—a classic finding. Unlike hypertrophic cardiomyopathy, Fabry disease shows a ‘granular sparkling’ pattern due to lipid deposition in cardiomyocytes. Restrictive filling pattern on Doppler? Fabry can lead to diastolic ...
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