Transthyretin amyloid cardiomyopathy

Area of Science:

• Cardiology
• Genetics
• Internal Medicine

Background:

• Transthyretin amyloidosis (ATTR) is a severe, progressive infiltrative cardiac disease.
• Caused by transthyretin (TTR) deposition, it presents in hereditary (ATTRv) and age-related (ATTRwt) forms.
• ATTR is more common than previously thought, particularly in individuals over 65 with heart failure or aortic stenosis.

Purpose of the Study:

• To review the clinical presentation, diagnosis, and treatment of transthyretin amyloidosis.
• To emphasize the importance of recognizing ATTR due to recent diagnostic and therapeutic advances.
• To provide clinicians with essential information for managing ATTR.

Main Methods:

• This review synthesizes current knowledge on ATTR.
• It covers the clinical spectrum, diagnostic approaches, and available treatments.
• Focuses on non-invasive diagnostic techniques and emerging therapies.

Main Results:

• ATTR is increasingly recognized, especially in older patients with specific cardiac conditions.
• Advances in imaging facilitate non-invasive diagnosis.
• New treatments can alter the disease's natural course.

Conclusions:

• ATTR is a significant and often overlooked cause of heart disease in the elderly.
• Familiarity with ATTR's presentation, diagnosis, and treatment is essential for clinicians.
• Timely intervention can improve outcomes for patients with ATTR.