The Clinical Presentation and Diagnosis of Primary Cardiac Amyloidosis

Abstract

A 67 year old female presented to her family physician with a five month history of progressing shortness of breath and fatigue.  Two weeks later, the patient followed-up with cardiology.  An echocardiogram revealed normal biventricular systolic function, pulmonary hypertension and mild tricuspid regurgitation.  Clinically, the patient had bilateral pedal edema, evidence of pleural effusion and an elevated jugular venous pressure (JVP).  Five weeks later she was admitted to hospital for further testing as there was a marked change in her condition.  In hospital, a series of investigations were performed including a pulmonary angiogram, thoracentesis, chest computed tomography (CT), venous Doppler of lower extremities and an endomyocardial biopsy.  The endomyocardial biopsy demonstrated interstitial and vascular positivity for amyloid by Congo Red stain with apple green birefringence in polarized light.  The patient was diagnosed with systemic primary amyloidosis (AL) with cardiac involvement.  Primary amyloidosis results from an accumulation of immunoglobulin light chains due to a clonal B cell disorder, often multiple myeloma.  Patients progress rapidly and the median survival of primary amyloidosis with heart involvement is 6 months.  While the signs and symptoms of congestive heart failure may be recognized with ease, determining the underlying cause of the heart failure may be more difficult.  Determination of the underlying cause of heart failure is essential as it will influence the management of the patient.  Early intervention may have a significant impact on the patient's response to treatment, especially when the underlying condition involves a malignancy or infiltrative disorder.