Cardiac amyloidosis: the great pretender

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.