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Diagnostic Tools for Cardiac Amyloidosis: A Pragmatic Comparison of Pathology, Imaging and Laboratories
Abdulaziz Joury1, Christian Faaborg-Andersen2, Raymundo A Quintana2
1John Ochsner Heart and Vascular Institute, Ochsner Medical Center, New Orleans, LA; King Salman Heart Center, King Fahd Medical City, Riyadh, Saudi Arabia.
Insights
Cardiac amyloidosis (CA) is an underdiagnosed heart condition. Early detection through high clinical suspicion and advanced cardiac imaging is crucial for timely treatment and improved patient outcomes.
Area of Science:
- Cardiology
- Internal Medicine
- Medical Diagnostics
Background:
- Cardiac amyloidosis (CA) is a frequent yet underdiagnosed cause of restrictive cardiomyopathy.
- Amyloid fibril accumulation in the heart leads to progressive dysfunction and increased mortality.
- CA affects multiple organs, complicating diagnosis and management.
Purpose of the Study:
- To review invasive and non-invasive cardiac imaging modalities for CA detection.
- To highlight the importance of early diagnosis in managing CA.
- To emphasize the need for clinical vigilance in patients with unexplained heart failure.
Main Methods:
- Comprehensive literature review of cardiac imaging techniques.
- Analysis of sensitivity and specificity data for various diagnostic modalities.
- Synthesis of clinical features and diagnostic criteria for CA.
Main Results:
- Various imaging modalities show differing sensitivities and specificities for CA diagnosis.
- Early identification of CA is linked to better therapeutic responses.
- Extracardiac manifestations are common and aid in diagnosis.
Conclusions:
- High clinical suspicion for CA in unexplained diastolic heart failure is essential.
- Advanced cardiac imaging plays a critical role in early CA detection.
- Timely diagnosis enables the use of disease-modifying therapies, improving prognosis.
Abstract:
Cardiac amyloidosis (CA) is a complex disease considered to be the most common underdiagnosed form of restrictive cardiomyopathy. Accumulation of misfolded proteins called amyloid fibrils in the extracellular space results in clinical deterioration and late diagnosis is associated with morbidity and mortality. Both types of this disease, light chain CA and transthyretin-related CA share many cardiac and extracardiac features that compromise multiple organs such as kidneys, musculoskeletal system, autonomic nervous system, and gastrointestinal tract. Early diagnosis and detection of CA are imperative. Clinicians should maintain a high degree of suspicion among patients with unexplained diastolic heart failure to implement different disease-altering therapies at the early stages of the disease. In this article, we provided a comprehensive review of multiple invasive and non-invasive cardiac imaging modalities with their respective degrees of sensitivities and specificity.
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