Understanding amyloid light chain cardiac amyloidosis: a case study emphasising integrated diagnostic techniques

Mahima Chaudhary; Mohammad Altamash Alam; Yuangang Qiu; Yanyun Pan

doi:10.18203/2320-6012.ijrms20253622

Authors

Mahima Chaudhary Department of Cardiology, The First Affiliated Hospital of Zhejiang Chinese Medical University (Zhejiang Provincial Hospital of Chinese Medicine), Hangzhou, China
Mohammad Altamash Alam Department of Cardiology, The First Affiliated Hospital of Zhejiang Chinese Medical University (Zhejiang Provincial Hospital of Chinese Medicine), Hangzhou, China
Yuangang Qiu Department of Cardiology, The First Affiliated Hospital of Zhejiang Chinese Medical University (Zhejiang Provincial Hospital of Chinese Medicine), Hangzhou, China
Yanyun Pan Department of Cardiology, The First Affiliated Hospital of Zhejiang Chinese Medical University (Zhejiang Provincial Hospital of Chinese Medicine), Hangzhou, China

DOI:

https://doi.org/10.18203/2320-6012.ijrms20253622

Keywords:

AL amyloidosis, Cardiac amyloidosis, Multiple myeloma, Integrated diagnostic techniques, Echocardiography, Monoclonal plasma cell

Abstract

Cardiac amyloidosis, a manifestation of systemic amyloidosis, presents diagnostic challenges due to diverse clinical presentations. A 56-year-old woman with a history of hypertension presented with recurrent chest tightness, palpitations, decreased exercise tolerance, and nocturnal dyspnea. Diagnostic workup revealed reduced left ventricular function, thickened interventricular septum, and left atrial enlargement on echocardiography and electrocardiogram. Immunohistochemical staining confirmed AL amyloidosis in bone marrow biopsy specimens. Treatment involved supportive care and chemotherapy for plasma cell dyscrasia. Prompt identification and intervention for AL amyloidosis are crucial, highlighting the diagnostic role of electrocardiograms and echocardiograms. Management strategies included supportive care and chemotherapy for plasma cell dyscrasia. This case underscores the significance of timely recognition and intervention for cardiac amyloidosis, contributing to improved understanding and management approaches.

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References

Khalid U, Awar O, Verstovsek G, Cheong B, Sarvari, Yellapragada V, et al. Isolated cardiac amyloidosis: an enigma unravelled. Methodist Debakey Cardiovasc J. 2015;11(1):53-8. DOI: https://doi.org/10.14797/mdcj-11-1-53

Garcia-Pavia P, Rapezzi C, Adler Y, Arad M, Basso C, Brucato A, et al. Diagnosis and treatment of cardiac amyloidosis. A position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur J Heart Fail. 2021;23(4):512-26. DOI: https://doi.org/10.1002/ejhf.2140

He S, Tian Z, Guan H, Li J, Fang Q, Zhang S. Clinical characteristics and prognosis of Chinese patients with hereditary transthyretin amyloid cardiomyopathy. Orphanet J Rare Dis. 2019;14(1). DOI: https://doi.org/10.1186/s13023-019-1235-x

Rosenzweig M, Landau H. Light chain (AL) amyloidosis: Update on diagnosis and management. J Hematol Oncol. 2011;4. DOI: https://doi.org/10.1186/1756-8722-4-47

Baker KR. Light chain amyloidosis: epidemiology, staging, and prognostication. Volume 18. Methodist DeBakey cardiovascular journal. NLM. 2022:27-35. DOI: https://doi.org/10.14797/mdcvj.1070

Tini G, Vianello PF, Gemelli C, Grandis M, Canepa M. Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation. J Cardiovasc Transl Res. 2019;12(6):514-6. DOI: https://doi.org/10.1007/s12265-018-9859-0

Wisniowski B, Wechalekar A. Confirming the diagnosis of amyloidosis. Acta Haematologica. 2020;143:312-21. DOI: https://doi.org/10.1159/000508022

Maurer MS, Elliott P, Comenzo R, Semigran M, Rapezzi C. Addressing common questions encountered in the diagnosis and management of cardiac amyloidosis. Circulation. 2017;135(14):1357-77. DOI: https://doi.org/10.1161/CIRCULATIONAHA.116.024438

Matsuda M, Gono T, Shimojima Y, Hoshii Y, Ikeda SI. Phenotypic analysis of plasma cells in bone marrow using flow cytometry in AL amyloidosis. Amyloid. 2003;10(2):110-6. DOI: https://doi.org/10.3109/13506120309041732

Grogan M, DIspenzieri A, Gertz MA. Light-chain cardiac amyloidosis: Strategies to promote early diagnosis and cardiac response. Heart. 2017;103:1065-72. DOI: https://doi.org/10.1136/heartjnl-2016-310704

Oerlemans MIFJ, Rutten KHG, Minnema MC, Raymakers RAP, Asselbergs FW, de Jonge N. Cardiac amyloidosis: the need for early diagnosis. Netherlands Heart J. 2019;27:525-36. DOI: https://doi.org/10.1007/s12471-019-1299-1

Lu, MS, A. Richards A. AL Amyloidosis: Unfolding a Complex Disease. J Adv Pract Oncol. 2019;10(8). DOI: https://doi.org/10.6004/jadpro.2019.10.8.4

Zanwar S, Gertz MA, Muchtar E. Immunoglobulin light chain amyloidosis: diagnosis and risk assessment. JNCCN. 2023;21:83-90. DOI: https://doi.org/10.6004/jnccn.2022.7077

Baptista P, Moura de Azevedo S, Alexandre A, Dias-Frias A. Case report and literature review of cardiac amyloidosis: a not-so-rare cause of heart failure. Cureus. 2023. DOI: https://doi.org/10.7759/cureus.33364

Yu CH, Lu YH, Lu JH. Cardiac amyloidosis. QJM. 2019;112:131-2. DOI: https://doi.org/10.1093/qjmed/hcy269

Perfetto F, Bergesio F, Emdin M, Cappelli F. Troponins in cardiac amyloidosis: Multipurpose markers. Nature Rev Cardiol. 2014;11:179. DOI: https://doi.org/10.1038/nrcardio.2013.129-c1