Introduction: Primary systemic amyloidosis (PSA) is a rare condition associated with poor prognosis. Heart failure (HF) and renal failure are major causes of death in these patients.
Case description: This is the case of a 71-year-old man with a history of Grawitz tumor with left nephrectomy and prostatic adenocarcinoma treated with radical prostatectomy, both 3 years prior to the present hospitalisation.
The patient was admitted with signs and symptoms of congestive HF for the last 2 months. Physical examination revealed a heart rate of 100 beats/min with a blood pressure of 95/60 mmHg, peripheral edema and jugular venous distention of 9 cm. The electrocardiogram showed sinus rhythm with first-degree atrioventricular block and right bundle branch block. Initial blood tests asserted mild anemia, an elevated creatinine and severely increased brain natriuretic peptides (BNP of 7586 pg/ml). The echocardiogram performed reve-aled a pattern of restrictive dilated, hypertrophic ventricles (“granular sparkling” appearing ventricular septum of 15 mm), anterior wall of the right ventricle (RV) of 9 mm, reduced left ventricle (LV) global function with severely impaired diastolic function and dilation of both atria; small left pleural effusion was observed. Further analysis using segmental longitudinal strain proved preserved apical strain, raising the suspicion of cardiac amyloidosis. The same findings were confirmed using cardiac magnetic resonance imaging which showed concentric LV thickening with reduced systolic function (a calculated ejection fraction of 44%) and a pattern of restrictive di-astolic filling with enlargement of the atria; we should mention a particular thickening of the atrial septum. On delayed postcontrast (gadolinium) images acquired, there was no enhancement of the thickened myocardium. To confirm the diagnosis of amyloidosis, the patient was referred to a haematology departament to continue investigations. Using a serum free-light-chain assay, highly elevated concentrations of kappa isotype light chains (415 mg/dl) were demonstrated. Fine-needle aspiration of abdominal fat was positive for amyloid deposits that were viewed as apple-green birefringence when stained with Congo red and viewed under polarizing microscopy. Bone marrow biopsy was per-formed to exclude other associated haematologic disorders, confirming the diagnosis of primary systemic AL amyloidosis. Extended investigations revealed neurologic involvement, abnormal hepatic function and renal impairment with a decreased glomerular filtration rate (28 ml/min/1.73 m²) and nephrotic range proteinuria. The patient received supporting HF treatment with diuretics and angiotensin-converting enzyme inhibitors and was initiated chemotherapy with high doses of melphalan and dexamethasone.
Conclusion: Even if prognosis in PSA is still poor, chemotherapy substantially improved survival of patients with PSA and cardiac involvement. This case emphasizes the importance of complex cardiac imaging techniques in the diagnosis of rare diseases.