Storage diseases are a diverse group of conditions marked by abnormal accumulations of substances like glycogen, fatty acids, and proteins in various tissues, including the heart and lungs. These rare diseases can pose significant diagnostic challenges due to their broad range of clinical presentations and involvement of multiple organs. Identification of key imaging findings can aid in early diagnosis and guide management. In this review, we present the cardiothoracic manifestations of these storage diseases, using imaging examples to highlight their clinical relevance.
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