[Transthyretin cardiac amyloidosis]

Area of Science:

• Cardiology
• Genetics
• Internal Medicine

Background:

• Transthyretin (TTR) cardiac amyloidosis arises from TTR protein misfolding, leading to amyloid fibril deposition in the myocardium.
• This condition causes heart failure, arrhythmias, and conduction defects, often presenting with unexplained cardiac thickening or extra-cardiac symptoms.

Purpose of the Study:

• To highlight the importance of recognizing Transthyretin amyloidosis.
• To outline diagnostic approaches and management strategies for TTR cardiac amyloidosis.

Main Methods:

• Review of clinical presentation, diagnostic tools (ECG, biomarkers, echocardiography, MRI, bone scintigraphy), and management guidelines.
• Discussion of emerging therapeutic options.

Main Results:

• TTR cardiac amyloidosis should be suspected in patients with unexplained myocardial thickening, heart failure with preserved ejection fraction, or aortic stenosis.
• Key red flags include carpal tunnel syndrome, peripheral neuropathy, and dysautonomia.

Conclusions:

• Early diagnosis and appropriate cardiologic management, avoiding certain medications, are vital.
• New treatments like TTR stabilizers and gene-targeting therapies offer promising future directions.