1Klinikum Vivantes im Friedrichshain Kardiologie Berlin, Deutschland; 2Vivantes Klinikum im Friedrichshain Klinik für Innere Medizin - Kardiologie und konserv. Intensivmedizin Berlin, Deutschland
Background:
Cardiac amyloidosis is an increasingly recognized cause of heart failure.
Aim:
This case aims to emphasize the definite role of myocardial biopsyin the diagnosis of cardiac amyloidosis. Additionally, it presents a patient with the uncommon combination of both amyloid transthyretin (ATTR) and amyloid monoclonal immunoglobulin light chain (AL) amyloidosis.
Presentation:
A 78-year-old male without any relevant previous medical conditions was admitted to our cardiology department with heart failure. Symptoms included shortness of breath and swelling of the legs, without any chest pain. Chest X-Ray demonstrated central congestion and a right-sided pleural effusion. He was treated with intensive diuretic therapy with furosemide and pleural puncture.
In the ECG, normofrequent atrial fibrillation with reduced voltage was documented (Figure 1). Echocardiography revealed left ventricular hypertrophy with preserved ejection fraction, and no valvular abnormalities were identified. Symptomatic atrial fibrillation prompted rhythm control, but after cardioversion, the patient experienced bradycardia and underwent pacemaker implantation.
Blood tests revealed hypochromic microcytic anemia and renal insufficiency, raising suspicion of amyloidosis. Screening indicated an elevated serum kappa/lambda ratio, with negative immune fixation. Kappa chain was detected in the urine. CT scan revealed no osteolysis, and bone tracer cardiac scintigraphy with 99m technetium was negative (Figure 2). The diagnostic pathway concluded with a left ventricular biopsy.
Histological Analysis:
The biopsy confirmed the diagnosis of cardiac amyloidosis. Subsequent subtyping revealed both focal accentuated ATTR amyloidosis and interstitial AL kappa amyloidosis.
Treatment and Outcome:
The patient was referred to a specialized amyloidosis center for further therapy. A chemotherapeutic regime, including daratumumab, bortezomib, cyclophosphamide, and dexamethasone, was initiated.
Conclusion:
This case underscores the significance of myocardial biopsy in the diagnostic process, emphasizing that a negative myocardial scintigraphy does not rule out ATTR amyloidosis, and that a myocardial biopsy should be performed in cases of high clinical suspicion. As new therapies for ATTR-CM are now available, recognition of the complete range of disease is important for optimal patient care.