Darracott Rebecca, Cooper Robert M, Mohiaddin Raad, Franquet Tomas, Radike Monika
Radiology Department Liverpool Heart and Chest Hospital NHS Foundation Trust Liverpool the United Kingdom of Great Britain and Northern Ireland.
Cardiology department Liverpool Heart and Chest Hospital NHS Foundation Trust United Kingdom; Research Institute for Sports and Exercise Science Liverpool John Moore University United Kingdom.
Eur J Radiol. 2025 Mar;184:111955. doi: 10.1016/j.ejrad.2025.111955. Epub 2025 Feb 1.
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.
贮积病是一组多样的病症，其特征是糖原、脂肪酸和蛋白质等物质在包括心脏和肺在内的各种组织中异常蓄积。这些罕见病由于临床表现广泛且累及多个器官，会带来重大的诊断挑战。识别关键的影像学表现有助于早期诊断并指导治疗。在本综述中，我们展示这些贮积病的心胸表现，通过影像学实例来突出其临床相关性。
