Difficulties in differential diagnosis of the AL- and ATTR-cardiac amyloidosis. Case report

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The article presents a clinical case describing a complex differential diagnosis of cardiac amyloidosis types and verification of the diagnosis of AL-amyloidosis.

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Filipp Orlov

Chazov National Medical Research Center of Cardiology

编辑信件的主要联系方式.
Email: feelorlove@gmail.com
ORCID iD: 0000-0003-2866-7141
Researcher ID: HKV-3361-2023

Laboratory Assistant-Researcher, Department of Radionuclide Diagnostics and Positron Emission Tomography

俄罗斯联邦, Moscow

Alexey Ansheles

Chazov National Medical Research Center of Cardiology

Email: a.ansheles@gmail.com
ORCID iD: 0000-0002-2675-3276

Doctor of Medical Sciences, Senior Researcher at the Department of Radionuclide Diagnostics and Positron Emission Tomography

俄罗斯联邦, Moscow

Svetlana Nasonova

Chazov National Medical Research Center of Cardiology

Email: feelorlove@gmail.com
ORCID iD: 0000-0002-0920-7417

Doctor of Medical Sciences, Professor, Head of the Department of Ultrasound Research Methods

俄罗斯联邦, Moscow

Marina Saidova

Chazov National Medical Research Center of Cardiology

Email: feelorlove@gmail.com
ORCID iD: 0000-0002-3233-1862

Doctor of Medical Sciences, Professor, Head of the Department of Ultrasound Research Methods

俄罗斯联邦, Moscow

Igor Zhirov

Chazov National Medical Research Center of Cardiology; Russian Medical Academy of Continuous Professional Education

Email: dr.nasonova@mail.ru
ORCID iD: 0000-0002-4066-2661

Doctor of Medical Sciences, Leading Researcher of the Department of Dept. myocardial diseases and heart failure

俄罗斯联邦, Moscow; Moscow

Elena Stepanova

Russian Medical Academy of Continuous Professional Education

Email: feelorlove@gmail.com
ORCID iD: 0000-0001-7760-5858

Assistant at the Department of Pathological Anatomy

俄罗斯联邦, Moscow

Mariya Suvorina

Institute of Protein Research

Email: feelorlove@gmail.com
ORCID iD: 0000-0001-7058-4310

Junior Researcher, Laboratory of Bioinformatics and Proteomic Research

俄罗斯联邦, Pushchino

Anastasia Shoshina

Chazov National Medical Research Center of Cardiology

Email: feelorlove@gmail.com
ORCID iD: 0000-0002-9519-7373

postgraduate student at the Department of Myocardial Diseases and Heart Failure

俄罗斯联邦, Moscow

Sergey Tereshchenko

Chazov National Medical Research Center of Cardiology

Email: feelorlove@gmail.com
ORCID iD: 0000-0001-9234-6129

Doctor of Medical Sciences, Professor, Head of the Department of Myocardial Diseases and Heart Failure

俄罗斯联邦, Moscow

Vladimir Sergienko

Chazov National Medical Research Center of Cardiology

Email: feelorlove@gmail.com
ORCID iD: 0000-0002-0487-6902

Doctor of Medical Sciences, Professor, Head of the Department of Radionuclide Diagnostics and Positron Emission Tomography

俄罗斯联邦, Moscow

参考

  1. Buxbaum JN, Dispenzieri A, Eisenberg DS, et al. Amyloid nomenclature 2022: update, novel proteins, and recommendations by the International Society of Amyloidosis (ISA) Nomenclature Committee. Amyloid. 2022;29(4):213-9. doi: 10.1080/13506129.2022.2147636
  2. Dubrey SW, Hawkins PN, Falk RH. Amyloid diseases of the heart: Assessment, diagnosis, and referral. Heart. 2011;97(1):75-84. doi: 10.1136/hrt.2009.190405
  3. Siddiqi OK, Ruberg FL. Cardiac amyloidosis: An update on pathophysiology, diagnosis, and treatment. Trends Cardiovasc Med. 2018;28(1):10-21. doi: 10.1016/j.tcm.2017.07.004
  4. Adams D, Suhr OB, Hund E, et al. First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy. Curr Opin Neurol. 2016;29:S14-26. doi: 10.1097/WCO.0000000000000289
  5. Falk RH, Alexander KM, Liao R, Dorbala S. AL (Light-Chain) Cardiac Amyloidosis: A Review of Diagnosis and Therapy. J Am Coll Cardiol. 2016;68(12):1323-41. doi: 10.1016/j.jacc.2016.06.053
  6. Ryšavá R. AL amyloidosis: advances in diagnostics and treatment. Nephrol Dial Transplant. 2019;34(9):1460-6. doi: 10.1093/ndt/gfy291
  7. Palladini G, Milani P, Merlini G. Management of AL amyloidosis in 2020. Blood. 2020;136(23):2620-7. doi: 10.1182/blood.2020006913
  8. Rubin J, Maurer MS. Cardiac Amyloidosis: Overlooked, Underappreciated, and Treatable. Annu Rev Med. 2020;71:203-19. doi: 10.1146/annurev-med-052918-020140
  9. Dittrich T, Kimmich C, Hegenbart U, Schönland SO. Prognosis and Staging of AL Amyloidosis. Acta Haematol. 2020;143(4):388-400. doi: 10.1159/000508287
  10. Сергиенко В.Б., Терещенко С.Н., Аншелес А.А., и др. Радионуклидные методы в диагностике амилоидоза сердца. Рациональная фармакотерапия в кардиологии. 2018;14(1):94-100 [Sergienko VB, Tereshchenko SN, Ansheles AA, et al. Nuclear imaging in the diagnosis of cardiac amyloidosis. Rational Pharmacotherapy in Cardiology. 2018;14(1):94-100 (in Russian)]. doi: 10.20996/1819-6446-2018-14-1-94-100
  11. Martinez-Naharro A, Hawkins PN, Fontana M. Cardiac amyloidosis. Clin Med (Lond). 2018;18(Suppl. 2):s30-s35. doi: 10.7861/clinmedicine.18-2-s30
  12. Zeng Y, Poterucha TJ, Einstein AJ, et al. False positive technetium-99m pyrophosphate scintigraphy in a patient with cardiac amyloidosis light chain: Case report. Medicine (Baltimore). 2021;100(17):e25582. doi: 10.1097/MD.0000000000025582

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2. Fig. 1. ECG of a 40-year-old patient with AL-amyloidosis with predominant heart failure, λ variant.

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3. Fig. 2. Echocardiography with Speckle-tracking technology. Global longitudinal strain index (GLS) significantly reduced – -2.5% (N<-20%).

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4. Fig. 3. Histological study of the colon edndobioptate. Staining with hematoxylin-eosin (a) and Congo red (b).

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5. Fig. 4. Data of planar scintigraphy, CT, SPECT and SPECT/CT scan of a patient with verified AL-amyloidosis. Intensive accumulation of radio pharma drug in the entire myocardium of the left ventricle with centers of increased inclusion in the apical and lower segments is visualized (Grade 2–3).

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6. Fig. 5. Immunohistochemical examination of the rectal endobioptate. Predominantly weak (+) expression of Kappa light chain (close CH 15) (a) and pronounced (+++) expression of Lambda light chain (clone SHL53) (b).

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