Pulmonary involvement in transthyretin cardiac amyloidosis: a case report

Background: Amyloidosis is a systemic disorder characterized by the deposition of misfolded proteins in various organs. While cardiac transthyretin amyloidosis (ATTR) is well-recognized, pulmonary involvement is rare and often overlooked in clinical practice.

Case summary: We present a case of severe, and ultimately fatal, cardiac and pulmonary ATTR amyloidosis in a 67-year-old male. The patient's initial complaints included dyspnoea and exercise intolerance. Echocardiography revealed isolated concentric left ventricular hypertrophy, and subsequent cardiac MRI suggested cardiac amyloidosis. Additional diagnostic steps, including bone scan and endomyocardial tissue biopsy, confirmed the diagnosis of ATTR amyloidosis. Intriguingly, this case also unveiled concurrent pulmonary involvement, characterized by ground-glass opacities, lymphadenopathy, and impaired lung function. Despite treatment with tafamidis, the patient's condition deteriorated swiftly. He was admitted to the hospital four months after his initial presentation, and ultimately succumbed to therapy-resistant respiratory distress and heart failure. Post-mortem examination revealed extensive cardiac and pulmonary interstitial ATTR amyloidosis, with the lung exhibiting a fibrotic stage of diffuse alveolar damage.

Discussion: This case highlights pulmonary involvement as a potential contributor to the clinical picture of ATTR amyloidosis. It also emphasizes the necessity for a multidisciplinary approach, heightened awareness, and further research to enhance the detection and management of pulmonary involvement in ATTR amyloidosis.