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Updated: Aug 19, 2025

Tissue Preparation Techniques for Contrast-Enhanced Micro Computed Tomography Imaging of Large Mammalian Cardiac Models with Chronic Disease
Published on: February 8, 2022
Danon Cardiomyopathy: Specific Imaging Signs
Antigoni Miliou1, Alexios S Antonopoulos1, Nikos Kouris1
1Unit of Inherited Cardiac Conditions and Sports Cardiology, First Department of Cardiology, National and Kapodistrian University of Athens, Athens, Greece.
Abstract:
Danon disease (DD) is a rare, X-linked genetic disorder caused by LAMP2 deficiency. Clinical phenotype involves early cardiomyopathy development along with pre-excitation, skeletal myopathy, retinopathy, and cognitive impairment. We highlight how a noninvasive diagnostic approach based on clinical and imaging red flags for DD can be employed to raise high clinical suspicion for DD, which was confirmed by genetic testing results. (Level of Difficulty: Intermediate.).
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