Amyloidosis involves extravascular deposition of fibrillar proteins within tissues and organs. Primary light chain amyloidosis represents the most common form of systemic amyloidosis involving deposition of monoclonal immunoglobulin light chains. Although pulmonary amyloid deposition is common in primary amyloidosis, clinically significant pulmonary amyloidosis is uncommon, and elevated pulmonary artery pressures are rarely observed in the absence of other underlying etiologies for pulmonary hypertension, such as elevated filling pressures secondary to cardiac amyloid. In this case report, we present a patient with primary light chain amyloidosis and pulmonary arterial hypertension in the setting of pulmonary vascular and right ventricular myocardial amyloid deposition.Keywords: multiple myeloma, pulmonary vascular disease, Congo red stain, medial hypertrophy.
CASE DESCRIPTIONA 53-year-old woman was referred for evaluation of dyspnea. She had a history of κ light chain amyloidosis, 1 diagnosed 2 years earlier when she presented with mild hypercalcemia and proteinuria. She had multisystem involvement: bone marrow biopsy demonstrated 20% κ-restricted plasmacytosis along with prominent amyloid, kidney biopsy demonstrated light chain deposition, and clinical findings indicated that she had hepatomegaly with infiltration of the liver. The patient underwent high-dose melphalan chemotherapy followed by autologous hematopoietic cell transplant and subsequently initiated bortezomib-thalidomide-dexamethasone maintenance therapy. Due to neurotoxicity, thalidomide was discontinued with the second cycle, but bortezomib-dexamethasone was given for a total of 16 cycles. The patient had an excellent response with persisting normalization of light chains within 2 months after treatment initiation and a significant reduction of bone marrow plasma cells to <5%. Although the patient had experienced mild dyspnea for some time, before cycle 17 of therapy, she reported a significant progression of symptoms. Over a 2-month period, she developed exertional dyspnea after walking only~15 m on flat ground. She denied episodes of chest pain. Electrocardiogram findings showed right axis deviation, and transthoracic echocardiogram findings indicated severe pulmonary hypertension on the basis of estimated right ventricular systolic pressures (eRVSP). Echocardiogram findings also included mild left ventricular (LV) and moderate right ventricular (RV) wall thickening in addition to impaired LV relaxation and severe RV dilation. Biventricular systolic function was within normal limits. There was no pericardial effusion, valvular thickening or dysfunction, increased echogenicity, or LV strain dissociation, findings that are often implicated in cardiac amyloidosis. 2,3 Cardiac magnetic resonance imaging performed at the initial diagnosis of multiple myeloma was negative for cardiac amyloidosis, but this study was performed approximately 15 months before onset of dyspnea and not repeated. Right and left heart catheterization confirmed the...