Stroke risk and atrial mechanical dysfunction in cardiac amyloidosis

Area of Science:

• Cardiology
• Neurology
• Genetics

Background:

• Cardiac amyloidosis significantly worsens patient prognosis, particularly when the heart is involved.
• It is linked to increased atrial arrhythmias and a higher risk of intracardiac thrombus formation.
• Protein deposition in amyloidosis can cause atrial mechanical dysfunction, potentially leading to thrombus even without arrhythmias.

Observation:

• A 42-year-old male with familial transthyretin amyloidosis experienced an embolic stroke.
• The stroke originated from a left atrial appendage thrombus.
• No atrial fibrillation was documented in this patient.

Findings:

• Familial transthyretin amyloidosis can cause atrial mechanical dysfunction.
• This dysfunction can lead to left atrial appendage thrombus formation.
• Thrombus formation may occur in the absence of atrial arrhythmias.

Implications:

• Cardiac amyloidosis poses a significant thrombotic risk beyond documented arrhythmias.
• Echocardiographic parameters and transesophageal echocardiography are vital for assessing this risk.
• Improved risk stratification is needed for patients with cardiac amyloidosis to prevent embolic events like stroke.