Cardiac amyloidosis: the great pretender
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Isolation of Atrial Cardiomyocytes from a Rat Model of Metabolic Syndrome-related Heart Failure with Preserved Ejection Fraction
Published on: July 26, 2018
Claudio Rapezzi1, Massimiliano Lorenzini, Simone Longhi
1Cardiology, Department of Experimental, Diagnostic and Specialty Medicine - DIMES, Alma Mater Studiorum, University of Bologna, Bologna, Italy, claudio.rapezzi@unibo.it.
Insights
Cardiac amyloidosis (CA) is frequently misdiagnosed due to knowledge gaps and disease complexity. Increased awareness and recognizing diagnostic "red flags" are crucial for timely diagnosis and improved patient outcomes.
Area of Science:
- Cardiology
- Medical Diagnostics
- Rare Diseases
Background:
- Cardiac amyloidosis (CA) is often underdiagnosed and misdiagnosed.
- Contributing factors include fragmented medical knowledge, limited specialized centers, and misconceptions about curability.
- Disease-related factors like phenotypic and genotypic heterogeneity also complicate diagnosis.
Purpose of the Study:
- To highlight the challenges in diagnosing cardiac amyloidosis.
- To emphasize the importance of physician and patient awareness.
- To identify diagnostic "red flags" for early and accurate diagnosis.
Main Methods:
- Review of clinical, imaging, and laboratory diagnostic challenges in CA.
- Analysis of factors contributing to misdiagnosis.
- Identification of key diagnostic indicators.
Main Results:
- Misdiagnosis stems from both physician-related and disease-related issues.
- Awareness is the primary factor in reducing underdiagnosis.
- Diagnostic "red flags" exist across various testing modalities.
Conclusions:
- Enhanced awareness is essential for managing cardiac amyloidosis underdiagnosis and misdiagnosis.
- Recognizing diagnostic "red flags" facilitates early and timely diagnosis.
- Early diagnosis is critical for managing cardiac dysfunction and utilizing emerging therapies.
Abstract:
Cardiac amyloidosis (CA) is often misdiagnosed because of both physician-related and disease-related reasons including: fragmented knowledge among different specialties and subspecialties, shortage of centres and specialists dedicated to disease management, erroneous belief it is an incurable disease, rarity of the condition, intrinsic phenotypic heterogeneity, genotypic heterogeneity in transthyretin-related forms and the necessity of target organ tissue histological diagnosis in the vast majority of cases. Pitfalls, incorrect beliefs and deceits challenge not only the path to the diagnosis of CA but also the precise identification of aetiological subtype. The awareness of this condition is the most important prerequisite for the management of the risk of underdiagnoses and misdiagnosis. Almost all clinical, imaging and laboratory tests can be misinterpreted, but fortunately each of these diagnostic steps can also offer diagnostic "red flags" (i.e. highly suggestive findings that can foster the correct diagnostic suspicion and facilitate early, timely diagnosis). This is especially important because outcomes in CA are largely driven by the severity of cardiac dysfunction and emerging therapies are aimed at preventing further amyloid deposition.
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Cardiomyopathy I: Introduction and Classification
Cardiomyopathy II: Dilated Cardiomyopathy
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Cardiomyopathy III: Hypertrophic Cardiomyopathy
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