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Case Reports
. 2025 Jan 2;25(1):1.
doi: 10.1186/s12872-024-04441-6.

Multimodality imaging features of systemic amyloidosis: a case report

Yi Yu  1   2 , Zhi-Chao Li  3 , Guang-Yin Li  4 , Ting Wang  5 , Yi-Gang Li  6
Affiliations
Case Reports

Multimodality imaging features of systemic amyloidosis: a case report

Yi Yu et al. BMC Cardiovasc Disord. .

Abstract

Background: Systemic light chain amyloidosis is a rare and debilitating disease, especially for which initially presented with digestive tract involvement. Myocardial amyloidosis is highly aggressive with generally poor prognosis and often resulted in missed diagnosis or misdiagnosis with routine examination tools. Multimodality imaging play an important role in diagnosing the amyloidosis effect on multiple organs. Chemoradiotherapy is the mainstay of treatment.

Case presentation: This article presents a rare case of systemic light chain amyloidosis, initially with gastrointestinal symptoms, in a 68-year-old male. He was hospitalized with diarrhea for one year and a half, dysphagia for 4 months, but he had no dyspnea. The transthoracic echocardiogram revealed myocardial hypertrophy of the left ventricle, the hypertrophic heart muscle echoed like "ground glass". The left ventricular ejection fraction (LVEF) detected by Simpson method was 51% and global longitudinal strain (GLS) was -9.00%. But cardiac magnetic resonance showed the patient without gadolinium delayed enhancement. The urinary protein series quantification and the serum free light chain levels were all increased. While the ratio of free κ and free λ was decreased. Hence, the abdominal fat biopsy of the patient was amyloidosis by electronic and immunoelectron microscopy. Organs involved include heart, kidneys, gastrointestinal tract and nervous system, stage III of mayo 2012 model. The patient was treated with Dara-BCD chemotherapy. This case underscores the diagnostic complexity, emphasizing the need for early identification given the grim prognosis associated with systemic AL amyloidosis requiring clinical data, detailed imaging, and histopathological insights. After discharge, the patient became better and followed up in the outpatient.

Conclusions: Systemic light chain amyloidosis can easily be missed diagnosis or misdiagnosis in its early stages, losing the opportunity for initiating earlier treatments to improve potential patient outcomes. Despite advancements in diagnostic biomarkers, this case highlights the potential for missed diagnosis with standard CMR imaging when gadolinium enhancement is negative. The utility of echocardiographic features such as reduced GLS and abnormal ECG findings emerges as critical in early identification of myocardial amyloidosis. The correct diagnosis of this case relied on the comprehensive utilization of multimodal imaging techniques including biopsy.

Keywords: Case report; Light chain; Multimodality imaging; Myocardial amyloidosis; Systemic.

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Conflict of interest statement

Declarations. Ethics approval and consent to participate: The present study was performed under clinical research protocols in accordance with the 1975 Declaration of Helsinki, and approved by the Ethics Committee of Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine (No. XHEC-D-2023–183). Consent for publication: Written informed consent for publication was obtained from all participants. Competing interests: The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Electrocardiogram and echocardiogram features. a ECG documented that the patient had sinus bradycardia, first degree atrioventricular block, and myocardial ischemia. b TTE demonstrated left and right ventricular myocardial hypertrophy, the myocardium echoed like "ground glass" (yellow arrow). c From apical four-chamber view, TTE detected the dilated left and right atrium. d TTE showed the thickened interatrial septum (yellow arrow) in apical four-chamber view. ECG: electrocardiogram; TTE: transthoracic echocardiography; LA: left atrium; RA: right atrium; IVS: interventricular septum; IAS: interatrial septum
Fig. 2
Fig. 2
TTE and RT4D-TTE revealed the left ventricular ejection fraction and diastolic function. a Pulse wave Doppler showed that peak A velocity was higher than peak E of the mitral flow (yellow arrow). b Tissue Doppler Imaging (TDI) detected peak a’ velocity was higher than peak e’ of the mitral annular (yellow arrow). c Representative images of LV strain values, STE of VVI technique detected the patient with a GLS of −9.00%. d Automatic volumetric left ventricular analysis (LVA) showed that LV ejection fraction was 52.28%. RT4D-TTE: real-time 4-dimensional transthoracic echocardiography; TDI: Tissue Doppler Imaging
Fig. 3
Fig. 3
STE features of the heart. a, b Strain tracking echocardiography (STE) of velocity vector imaging (VVI) technique showed the patient with a GLS of −9.00%
Fig. 4
Fig. 4
CMR features of the patient. a CMR showed the left ventricular systolic function was normal, a small amount of pericardial effusion, left ventricular myocardial perfusion and enhanced delayed scanning showed no significant abnormalities. b Representative images of LGE images. The myocardial value was within the normal range and LGE was negative. CMR: cardiac magnetic resonance; LGE: late gadolinium enhancement
Fig. 5
Fig. 5
The pathological ultrastructure and electron microscopic examination confirmed the adipose tissue amyloidosis. a EM showed the fat cells (yellow arrow) and the deposition of amyloid fibers between adipocytes, that is, unbranched, rigid, and disordered filaments (green arrow). b EM showed the vascular endothelial cells (yellow arrow) and the deposition of amyloid fibers around the vessels (green arrow). Magnification 20000X, bar = 1.0um. c IEM showed lots of colloidal gold particles attached to amyloid fibers (black particles). Magnification 30000X, bar = 0.5um. d IEM showed a large amount of colloidal gold particles attached to amyloid fibers (black particles). Magnification 60000X, bar = 0.2um. EM: Electronic microscopy; IEM: Immunoelectron microscopy
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