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Horm Metab Res 2022; 54(06): 339-353
DOI: 10.1055/a-1846-4878
Review

Rare Metabolic and Endocrine Diseases with Cardiovascular Involvement: Insights from Cardiovascular Magnetic Resonance – A Review

Aikaterini Christidi 
1   Cardiovascular Magnetic Resonance, Euromedica General Clinic, Thessaloniki, Greece
,
Sophie I. Mavrogeni
2   Cardiology, Onassis Cardiac Surgery Center, Athens, Greece
3   First Department of Pediatrics, School of Medicine, National and Kapodistrian University of Athens, Aghia Sophia Children’s Hospital, Athens, Greece, Exercise Physiology and Sport Medicine Clinic, Center for Adolescent Medicine and UNESCO Chair in Adolescent Health Care, Athens, Greece
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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 hormone


Publication 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.

Georg Thieme Verlag
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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