Key result
CMR provides fundamental diagnostic and prognostic value for cardiovascular involvement in rare metabolic and endocrine diseases.
Why the study?
Identifying rare diseases with cardiovascular involvement is challenging due to their rarity and lack of expertise, leaving them underrecognized and leading to clinical mismanagement.
CMR is a fundamental imaging modality for the comprehensive evaluation, early detection, and management of cardiovascular involvement in rare metabolic and endocrine diseases.
May guide evaluation of rare metabolic cardiomyopathies; leaves open prospective validation before practice change.
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.
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Christidi et al. (2022) conducted a review in Rare Metabolic and Endocrine Diseases with Cardiovascular Involvement. Cardiovascular Magnetic Resonance (CMR) was evaluated. Cardiovascular magnetic resonance imaging provides fundamental diagnostic and prognostic value in identifying and characterizing cardiovascular involvement in rare metabolic and endocrine diseases.
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