Senile Systemic Amyloidosis: An Underdiagnosed Disease

Area of Science:

• Cardiology
• Geriatrics
• Pathology

Background:

• Senile systemic amyloidosis involves transthyretin amyloid deposition, primarily affecting the heart.
• It often presents as infiltrative cardiomyopathy, leading to slowly progressive heart failure.

Purpose of the Study:

• To highlight the diagnostic challenges and key features of senile systemic amyloidosis.
• To emphasize the importance of recognizing this condition in elderly patients with heart failure.

Main Methods:

• Case report of an 82-year-old female with newly diagnosed and decompensated heart failure.
• Diagnostic work-up included laboratory tests (troponin, N-terminal-pro BNP), ECG, Holter monitoring, and Cardiac MRI.
• Diagnosis confirmed by demonstrating amyloid protein and characteristic clinical/imaging findings.

Main Results:

• The patient presented with progressive heart failure, syncope, elevated cardiac biomarkers, and severe left ventricular concentric hypertrophy.
• Cardiac MRI showed diffuse late gadolinium enhancement, indicative of infiltrative disease.
• The constellation of findings led to the diagnosis of senile systemic amyloidosis.

Conclusions:

• Senile systemic amyloidosis is likely underdiagnosed, particularly in patients with heart failure with preserved ejection fraction.
• Suspicion should be raised by unexplained heart failure, ventricular wall thickening, and low ECG voltage.
• Advanced imaging and evidence of amyloid elsewhere can confirm diagnosis, potentially avoiding endomyocardial biopsy.