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DOI: 10.1055/a-1846-4878
Rare Metabolic and Endocrine Diseases with Cardiovascular Involvement: Insights from Cardiovascular Magnetic Resonance – A Review
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Abstract
The identification of rare diseases with cardiovascular involvement poses significant diagnostic challenges due to the rarity of the diseases, but also due to the lack of knowledge and expertise. Most of them remain underrecognized and undiagnosed, leading to clinical mismanagement and affecting the patients’ prognosis, as these diseases are per definition life-threatening or chronic debilitating. This article reviews the cardiovascular involvement of the most well-known rare metabolic and endocrine diseases and their diagnostic approach through the lens of cardiovascular magnetic resonance (CMR) imaging and its prognostic role, highlighting its fundamental value compared to other imaging modalities.
Key words
cardiovascular magnetic resonance - rare endocrine and metabolic diseases - storage diseases - fabry disease - pheochromocytoma, hypertension - growth hormonePublication History
Received: 16 February 2022
Accepted after revision: 08 May 2022
Accepted Manuscript online:
08 May 2022
Article published online:
13 June 2022
© 2022. Thieme. All rights reserved.
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Germany
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