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

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 affe...

Full description

Saved in:
Bibliographic Details
Published inHormone and metabolic research Vol. 54; no. 6; pp. 339 - 353
Main Authors Christidi, Aikaterini, Mavrogeni, Sophie I.
Format Journal Article
LanguageEnglish
Published Rüdigerstraße 14, 70469 Stuttgart, Germany Georg Thieme Verlag 01.06.2022
Subjects
Review
fabry disease
rare endocrine and metabolic diseases
pheochromocytoma, hypertension
storage diseases
growth hormone
cardiovascular magnetic resonance
Online AccessGet full text

Cover

More Information
Summary: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.
ISSN:0018-5043
1439-4286
DOI:10.1055/a-1846-4878