Cardiac Amyloidosis: Pathogenesis, Diagnosis, and Treatment

Area of Science:

• Cardiology
• Nephrology
• Genetics

Background:

• Cardiac amyloidosis involves protein misfolding and interstitial deposition, impairing organ function.
• Transthyretin (ATTR) and light-chain (AL) amyloidosis are common systemic types affecting the heart.
• The administrative prevalence of cardiac amyloidosis is approximately 50 per 100,000 person-years.

Purpose of the Study:

• To review the diagnostic evaluation of cardiac amyloidosis.
• To discuss recent advancements in the treatment of amyloidosis, particularly ATTR amyloidosis.

Main Methods:

• A selective PubMed search was conducted for relevant studies.
• Included publication types: registry studies, meta-analyses, RCTs, systematic reviews, guidelines, and position papers.
• Search terms included "cardiac amyloidosis," "ATTR amyloidosis," and treatment-related keywords.

Main Results:

• Cardiac amyloidosis significantly impairs cardiac function, leading to poor prognosis and high mortality.
• Diagnosis relies on advanced imaging: echocardiography, cardiac MRI, and scintigraphy.
• Transthyretin stabilizers (e.g., tafamidis) and RNA silencers (e.g., vutrisiran) improve outcomes and reduce mortality in ATTR amyloidosis.

Conclusions:

• Early diagnosis and targeted therapies are crucial for managing advanced cardiac amyloidosis.
• Improved imaging and disease-modifying treatments offer better patient outcomes.
• Ongoing research is exploring further therapeutic approaches for cardiac amyloidosis.