Primary cardiac amyloidosis: A case presentation

Area of Science:

• Cardiology
• Pathology
• Medical Diagnostics

Background:

• Primary cardiac amyloidosis can mimic other cardiac conditions like constrictive pericarditis.
• Diagnostic challenges arise when initial biopsies are negative for amyloidosis.

Observation:

• A young man presented with restrictive cardiomyopathy symptoms, initially suspected as tuberculous constrictive pericarditis.
• Cardiac catheterization was inconclusive; pericardial biopsy was negative.
• Right ventricular endomyocardial biopsy confirmed cardiac amyloid infiltration, despite negative biopsies elsewhere (rectal, tongue, liver).

Findings:

• This case represents the second documented instance of primary cardiac amyloidosis diagnosed using right ventricular endomyocardial biopsy.
• Phonocardiographic evidence of early aortic valve closure is reported for the first time in amyloid restrictive cardiomyopathy.
• The patient's respiratory function tests indicated a restrictive pattern, likely secondary to heart failure.

Implications:

• Endomyocardial biopsy is a crucial and safe diagnostic tool for differentiating cardiac amyloidosis from conditions like tuberculous constrictive pericarditis.
• Early diagnosis and intervention are vital, though this patient had a poor prognosis despite treatment options.
• Increased awareness and utilization of endomyocardial biopsy are recommended for suspected cardiac amyloidosis.