[Suspected cardiac amyloidosis - diagnostic steps for evaluation]

Area of Science:

• Cardiology
• Genetics
• Oncology

Background:

• Cardiac amyloidosis, a rare cardiomyopathy, is often linked to underdiagnosed systemic diseases.
• Transthyretin amyloidosis (ATTR) involves misfolded transthyretin deposition (wild-type or mutated).
• Recent treatments for ATTR amyloidosis show promise in reducing disease progression and heart failure hospitalizations.

Purpose of the Study:

• To emphasize the importance of early and reliable diagnosis of cardiac involvement in ATTR amyloidosis.
• To highlight the role of modern diagnostic tools in identifying cardiac amyloidosis.
• To underscore the necessity of interdisciplinary collaboration for effective patient management.

Main Methods:

• Utilizing non-invasive imaging techniques such as cardio magnetic resonance (CMR) and scintigraphy for screening.
• Employing immune fixation with free light chain determination for rapid clinical assessment.
• Confirming diagnosis through endomyocardial biopsy and genetic testing.

Main Results:

• Non-invasive imaging and specific lab tests enable fast and reliable screening for cardiac amyloidosis.
• Endomyocardial biopsy and genetic analysis provide definitive diagnosis.
• Interdisciplinary teams are essential for personalized treatment strategies.

Conclusions:

• Early diagnosis of cardiac ATTR amyloidosis is vital due to available evidence-based treatments.
• A combination of non-invasive screening and confirmatory tests facilitates timely diagnosis.
• Integrated care involving multiple specialties ensures optimal management and personalized treatment for patients.