AL amyloidosis with cardiac involvement: a case report with literature review

Sanjay  Arya; Venus Shahabi  Rabori; Sara  Azeem

doi:10.18502/cbj.v5i1.19445

Sanjay Arya Department of Cardiology, Royal Albert Edward Infirmary of Wigan, Wwl NHS Trust, UK
Venus Shahabi Rabori Department of Cardiology, Royal Albert Edward Infirmary of Wigan, Wwl NHS Trust, UK
Sara Azeem Medicine, Royal Albert Edward Infirmary of Wigan, Wwl NHS Trust, UK

DOI: https://doi.org/10.18502/cbj.v5i1.19445

Keywords: Restrictive cardiomyopathy, AL amyloidosis, cardiac amyloidosis, heart failure, lambda free light chains, Tc-DPD scan, fat aspirate biopsy, multidisciplinary approach, infection, renal dysfunction

Abstract

Objectives: To present a case of rapidly progressing cardiac immunoglobulin light chain (AL) amyloidosis, highlighting diagnostic challenges, management complexities, and the importance of early intervention. AL amyloidosis is a rare and severe disorder that causes organ damage, especially in the heart, leading to restrictive cardiomyopathy, heart failure, and arrhythmias. This case report highlights diagnostic difficulties and management issues, showcasing advanced imaging techniques and a multidisciplinary approach.

Methods: A 68-year-old man presented to Wigan Infirmary, Wrightington, Wigan, and Leigh (WWL) NHS Trust in July 2024 with dyspnea, nocturnal cough, and decreased exercise tolerance due to rapidly progressing cardiac AL amyloidosis. The diagnostic workup included chest X-ray, echocardiography, cardiac MRI, and a Technetium-99m-labeled 3, 3-diphosphono-1, 2-propanodicarboxylic acid (Tc-DPD) scan. Fat aspirate biopsy confirmed the diagnosis by showing Congo red positivity with characteristic apple-green birefringence under polarized light. Laboratory tests supported the diagnosis, revealing lambda free light chain levels over 2000 mg/L, elevated B-type natriuretic peptide (BNP) at 4174 pg/mL, and impaired kidney function. This case emphasizes the importance of early detection and treatment of cardiac amyloidosis, as well as the difficulties of managing this condition alongside concurrent infections.

Results: Despite early diagnosis and vigorous treatment, the patient's condition rapidly declined, leading to several hospitalizations for decompensated heart failure and infections. Treatment focused on reducing amyloid production and managing cardiac issues. For infection-related admissions, the treatment regimen included intravenous furosemide, dexamethasone, and piperacillin-tazobactam (Tazocin). However, over these admissions, the patient’s condition worsened due to recurring infections and the progressive decline in renal and hepatic function. Sadly, the patient died in early January 2025 during the final hospitalization due to severe refractory heart failure.

Conclusions: The case highlights the vital importance of early detection and a multidisciplinary approach to managing cardiac AL amyloidosis. It stresses the need for collaboration among various specialties, including cardiology, hematology, and infectious disease, to effectively handle the complexities of concurrent cardiac failure, arrhythmias, and infections. This coordinated care approach is essential for optimizing treatment planning and orders.