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<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="en"><front><journal-meta><journal-id journal-id-type="publisher-id">rpcardio</journal-id><journal-title-group><journal-title xml:lang="en">Rational Pharmacotherapy in Cardiology</journal-title><trans-title-group xml:lang="ru"><trans-title>Рациональная Фармакотерапия в Кардиологии</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">1819-6446</issn><issn pub-type="epub">2225-3653</issn><publisher><publisher-name>«SILICEA-POLIGRAF» LLC</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.20996/1819-6446-2024-3031</article-id><article-id custom-type="edn" pub-id-type="custom">VTYULM</article-id><article-id custom-type="elpub" pub-id-type="custom">rpcardio-3031</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>CLINICAL CASE</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>КЛИНИЧЕСКИЕ СЛУЧАИ</subject></subj-group></article-categories><title-group><article-title>Early identification of cardiac ATTR amyloidosis: a clinical case</article-title><trans-title-group xml:lang="ru"><trans-title>Ранняя идентификация ATTR-амилоидоза сердца: клинический случай</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0009-0002-1297-5035</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Ведерников</surname><given-names>А. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Vedernikov</surname><given-names>A. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Ведерников Артем Андреевич - врач - кардиолог, кардиологического отделения №2.</p><p>Тюмень</p></bio><bio xml:lang="en"><p>Artyom A. Vedernikov.</p><p>Tyumen</p></bio><email xlink:type="simple">barterer55@yandex.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-6086-4578</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Межонов</surname><given-names>Е. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Mezhonov</surname><given-names>E. M.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Межонов Евгений Михайлович.</p><p>Тюмень</p></bio><bio xml:lang="en"><p>Evgeny M. Mezhonov.</p><p>Tyumen</p></bio><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-4325-2633</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Широков</surname><given-names>Н. Е.</given-names></name><name name-style="western" xml:lang="en"><surname>Shirokov</surname><given-names>N. Е.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Широков Никита Евгеньевич.</p><p>Тюмень</p></bio><bio xml:lang="en"><p>Nikita Е. Shirokov.</p><p>Tyumen</p></bio><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0009-0005-2586-9217</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Балина</surname><given-names>В. A.</given-names></name><name name-style="western" xml:lang="en"><surname>Balina</surname><given-names>V. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Балина Валентина Александровна.</p><p>Тюмень</p></bio><bio xml:lang="en"><p>Valentina A. Balina.</p><p>Tyumen</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-9407-5497</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Рейтблат</surname><given-names>О. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Reitblat</surname><given-names>O. M.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Рейтблат Олег Маркович.</p><p>Тюмень</p></bio><bio xml:lang="en"><p>Oleg M. Reitblat.</p><p>Tyumen</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-5193-5218</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Теффенберг</surname><given-names>Д. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Teffenberg</surname><given-names>D. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Теффенберг Дмитрий Вадимович.</p><p>Тюмень</p></bio><bio xml:lang="en"><p>Dmitry V. Teffenberg.</p><p>Tyumen</p></bio><xref ref-type="aff" rid="aff-4"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Шалаев</surname><given-names>С. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Shalaev</surname><given-names>S. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Шалаев Сергей Васильевич.</p><p>Тюмень</p></bio><bio xml:lang="en"><p>Sergey V. Shalaev.</p><p>Tyumen</p></bio><xref ref-type="aff" rid="aff-2"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Областная клиническая больница №1</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Regional Clinical Hospital No.1</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>Областная клиническая больница №1; Тюменский государственный медицинский университет Минздрава России</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Regional Clinical Hospital No.1; Tyumen State Medical University</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>Тюменский кардиологический научный центр, Томский национальный исследовательский медицинский центр Российской академии наук</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Tomsk National Research Medical Center, Russian Academy of Sciences</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-4"><aff xml:lang="ru"><institution>Многопрофильный клинический медицинский центр "Медицинский город"</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Tyumen Cardiology Research Center, Tomsk National Research Medical Center</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2024</year></pub-date><pub-date pub-type="epub"><day>02</day><month>07</month><year>2024</year></pub-date><volume>20</volume><issue>3</issue><fpage>357</fpage><lpage>366</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Vedernikov A.A., Mezhonov E.M., Shirokov N.Е., Balina V.A., Reitblat O.M., Teffenberg D.V., Shalaev S.V., 2024</copyright-statement><copyright-year>2024</copyright-year><copyright-holder xml:lang="ru">Ведерников А.А., Межонов Е.М., Широков Н.Е., Балина В.A., Рейтблат О.М., Теффенберг Д.В., Шалаев С.В.</copyright-holder><copyright-holder xml:lang="en">Vedernikov A.A., Mezhonov E.M., Shirokov N.Е., Balina V.A., Reitblat O.M., Teffenberg D.V., Shalaev S.V.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://www.rpcardio.online/jour/article/view/3031">https://www.rpcardio.online/jour/article/view/3031</self-uri><abstract><p>Progress in instrumental diagnostics, as well as increased awareness among doctors about rare diseases, is steadily leading to an increased number of patients diagnosed with cardiac amyloidosis. Regardless of amyloid formation route, cardiac damage is the main cause of mortality in systemic amyloidosis. The article presents a unique clinical observation of hereditary transthyretin (ATTR) amyloidosis mixed phenotype detection during skeletal scintigraphy. In the patient with severe shortness of breath, based on the results of radiological research, an oncological process in the lungs was suspected. The patient underwent skeletal scintigraphy to exclude metastatic lesions, during which a scintigraphy pattern characteristic of ATTR amyloidosis (Grade 3) was revealed. Subsequently, the oncological diagnosis was removed. An independent disease of hematopoietic system was excluded, and mutation in TTR gene was additionally confirmed. This clinical case illustrates the possibility of making a diagnosis of cardiac amyloidosis without resorting to myocardial biopsy, when the patient still has slight limitations in physical activity (NYHA class II) and there is no late gadolinium enhancement on magnetic resonance imaging.</p></abstract><trans-abstract xml:lang="ru"><p>Прогресс в инструментальной диагностике, а также повышение осведомленности врачей о редких заболеваниях неуклонно приводят к росту числа пациентов с выявленным амилоидозом сердца. Вне зависимости от пути формирования амилоида, именно поражение сердца является главной причиной смертности при системном амилоидозе. В статье представлено уникальное клиническое наблюдение выявления смешанного фенотипа наследственного транстиретинового (ATTR) амилоидоза при проведении сцинтиграфии скелета. У пациентки с выраженной одышкой, преобладающей в клинической картине, по результатам лучевых методов исследования был заподозрен онкологический процесс в лёгких. Больной была проведена сцинтиграфия скелета с целью исключения метастатического поражения, во время проведения которой выявлена сцинтиграфическая картина, характерная для ATTR-амилоидоза (Grade 3). В дальнейшем онкологический диагноз был снят. Было исключено самостоятельное заболевание системы кроветворения, а также дополнительно была подтверждена мутация в гене TTR. Данный клинический случай иллюстрирует возможность постановки диагноза амилоидоза сердца, не прибегая к биопсии миокарда, когда пациент имеет ещё небольшие ограничения физической активности (функциональный класс II по NYHA), а по данным магнитно-резонансной терапии не выявляется отсроченное контрастирование гадолинием.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>амилоидоз сердца</kwd><kwd>транстиретиновый амилоидоз</kwd><kwd>сцинтиграфия</kwd><kwd>диагностика</kwd><kwd>клинический случай</kwd></kwd-group><kwd-group xml:lang="en"><kwd>cardiac amyloidosis</kwd><kwd>transthyretin amyloidosis</kwd><kwd>scintigraphy</kwd><kwd>diagnosis</kwd><kwd>clinical case</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Mankad AK, Shah KB. Transthyretin Cardiac Amyloidosis. Curr Cardiol Rep. 2017;19(10):97. DOI:10.1007/s11886-017-0911-5.</mixed-citation><mixed-citation xml:lang="en">Mankad AK, Shah KB. Transthyretin Cardiac Amyloidosis. Curr Cardiol Rep. 2017;19(10):97. DOI:10.1007/s11886-017-0911-5.</mixed-citation></citation-alternatives></ref><ref id="cit2"><label>2</label><citation-alternatives><mixed-citation xml:lang="ru">Терещенко С. Н., Жиров И. В., Моисеева О. М., и др. Практические рекомендации по диагностике транстиретиновой амилоидной кардиомиопатии (ATTR-КМП или транстиретинового амилоидоза сердца). Терапевтический архив. 2022;94(4):584-95. DOI:10.26442/00403660.2022.04.2014653.</mixed-citation><mixed-citation xml:lang="en">Tereshchenko SN, Zhirov IV, Moiseeva OM, et al. Practical guidelines for the diagnosis and treatment of transthyretin amyloid cardiomyopathy (ATTR-CM or transthyretin cardiac amyloidosis). Terapevticheskii arkhiv. 2022;94(4):584-95 (In Russ.) DOI:10.26442/00403660.2022.04.2014653.</mixed-citation></citation-alternatives></ref><ref id="cit3"><label>3</label><citation-alternatives><mixed-citation xml:lang="ru">Никифорова Т. В., Чарая К. В., Щекочихин Д. Ю., и др. Первые данные о распространенности транстиретинового амилоидоза при гипертрофии левого желудочка в России. Кардиология. 2024;64(4):54-60. DOI:10.18087/cardio.2024.4.n2611.</mixed-citation><mixed-citation xml:lang="en">Nikiforova TV, Charaya KV, Shchekochikhin DYu, et al. Primary Data on ATTR-Amyloidosis Prevalence Among Elderly Patients With Left Ventricular Hypertrophy in Russia. Kardiologiia. 2024;64(4):54-60 (In Russ.) DOI:10.18087/cardio.2024.4.n2611.</mixed-citation></citation-alternatives></ref><ref id="cit4"><label>4</label><citation-alternatives><mixed-citation xml:lang="ru">Dungu JN, Anderson LJ, Whelan CJ, et al. Cardiac transthyretin amyloidosis. Heart. 2012;98(21):1546-54. DOI:10.1136/heartjnl-2012-301924.</mixed-citation><mixed-citation xml:lang="en">Dungu JN, Anderson LJ, Whelan CJ, et al. Cardiac transthyretin amyloidosis. Heart. 2012;98(21):1546-54. DOI:10.1136/heartjnl-2012-301924.</mixed-citation></citation-alternatives></ref><ref id="cit5"><label>5</label><citation-alternatives><mixed-citation xml:lang="ru">Hawkins PN, Ando Y, Dispenzeri A, et al. Evolving landscape in the mana­gement of transthyretin amyloidosis. Ann Med. 2015;47(8):625-38. DOI:10.3109/07853890.2015.1068949.</mixed-citation><mixed-citation xml:lang="en">Hawkins PN, Ando Y, Dispenzeri A, et al. Evolving landscape in the mana­gement of transthyretin amyloidosis. Ann Med. 2015;47(8):625-38. DOI:10.3109/07853890.2015.1068949.</mixed-citation></citation-alternatives></ref><ref id="cit6"><label>6</label><citation-alternatives><mixed-citation xml:lang="ru">Насонова С. Н., Жиров И. В., Магомедов М. М., и др. Опыт применения тафамидиса у пациентки с транстиретиновым амилоидозом. Кардиология. 2020;60(3):155–60. DOI:10.18087/cardio.2020.3.n824.</mixed-citation><mixed-citation xml:lang="en">Nasonova SN, Zhirov IV, Magomedov MM, et al. Experience with tafamidis in a patient with transthyretin amyloidosis. Kardiologiia. 2020;60(3):155-60 (In Russ.) DOI:10.18087/cardio.2020.3.n824.</mixed-citation></citation-alternatives></ref><ref id="cit7"><label>7</label><citation-alternatives><mixed-citation xml:lang="ru">Maurer MS, Schwartz JH, Gundapaneni B, et al. Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy. N Engl J Med. 2018;379(11):1007-16. DOI:10.1056/NEJMoa1805689.</mixed-citation><mixed-citation xml:lang="en">Maurer MS, Schwartz JH, Gundapaneni B, et al. Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy. N Engl J Med. 2018;379(11):1007-16. DOI:10.1056/NEJMoa1805689.</mixed-citation></citation-alternatives></ref><ref id="cit8"><label>8</label><citation-alternatives><mixed-citation xml:lang="ru">Vogelsberg H, Mahrholdt H, Deluigi CC, et al. Cardiovascular magnetic resonance in clinically suspected cardiac amyloidosis: noninvasive imaging compared to endomyocardial biopsy. J Am Coll Cardiol. 2008;51(10):1022-30. DOI:10.1016/j.jacc.2007.10.049.</mixed-citation><mixed-citation xml:lang="en">Vogelsberg H, Mahrholdt H, Deluigi CC, et al. Cardiovascular magnetic resonance in clinically suspected cardiac amyloidosis: noninvasive imaging compared to endomyocardial biopsy. J Am Coll Cardiol. 2008;51(10):1022-30. DOI:10.1016/j.jacc.2007.10.049.</mixed-citation></citation-alternatives></ref><ref id="cit9"><label>9</label><citation-alternatives><mixed-citation xml:lang="ru">Zhao L, Tian Z, Fang Q. Diagnostic accuracy of cardiovascular magnetic resonance for patients with suspected cardiac amyloidosis: a systematic re-view and meta-analysis. BMC Cardiovasc Disord. 2016;16(1):129. DOI:10.1186/s12872-016-0311-6.</mixed-citation><mixed-citation xml:lang="en">Zhao L, Tian Z, Fang Q. Diagnostic accuracy of cardiovascular magnetic resonance for patients with suspected cardiac amyloidosis: a systematic re-view and meta-analysis. BMC Cardiovasc Disord. 2016;16(1):129. DOI:10.1186/s12872-016-0311-6.</mixed-citation></citation-alternatives></ref><ref id="cit10"><label>10</label><citation-alternatives><mixed-citation xml:lang="ru">Garcia-­Pavia P, Rapezzi C, Adler Y, et al. Diagnosis and treatment of cardiac amyloidosis: a position statement of the ESC Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2021;42(16):1554-68. DOI:10.1093/eurheartj/ehab072.</mixed-citation><mixed-citation xml:lang="en">Garcia-Pavia P, Rapezzi C, Adler Y, et al. Diagnosis and treatment of cardiac amyloidosis: a position statement of the ESC Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2021;42(16):1554-68. DOI:10.1093/eurheartj/ehab072.</mixed-citation></citation-alternatives></ref><ref id="cit11"><label>11</label><citation-alternatives><mixed-citation xml:lang="ru">Kiotsekoglou A, Saha SK, Nanda NC, et al. Echocardiographic diagnosis of cardiac amyloidosis: Does the masquerader require only a ‘cherry on top’? Echocardiography. 2020;37(11):1713-5. DOI:10.1111/echo.14952.</mixed-citation><mixed-citation xml:lang="en">Kiotsekoglou A, Saha SK, Nanda NC, et al. Echocardiographic diagnosis of cardiac amyloidosis: Does the masquerader require only a ‘cherry on top’? Echocardiography. 2020;37(11):1713-5. DOI:10.1111/echo.14952.</mixed-citation></citation-alternatives></ref><ref id="cit12"><label>12</label><citation-alternatives><mixed-citation xml:lang="ru">Ferkh A, Tjahjadi C, Stefani L, et al. Cardiac "hypertrophy" phenotyping: differentiating aetiologies with increased left ventricular wall thickness on echocardiography. Front Cardiovasc Med. 2023;10:1183485. DOI:10.3389/fcvm.2023.1183485.</mixed-citation><mixed-citation xml:lang="en">Ferkh A, Tjahjadi C, Stefani L, et al. Cardiac "hypertrophy" phenotyping: differentiating aetiologies with increased left ventricular wall thickness on echocardiography. Front Cardiovasc Med. 2023;10:1183485. DOI:10.3389/fcvm.2023.1183485.</mixed-citation></citation-alternatives></ref><ref id="cit13"><label>13</label><citation-alternatives><mixed-citation xml:lang="ru">Fontana M, Pica S, Reant P, et al. Prognostic Value of Late Gadolinium Enhancement Cardiovascular Magnetic Resonance in Cardiac Amyloidosis. Circulation. 2015;132(16):1570-9. DOI:10.1161/CIRCULATIONAHA.115.016567.</mixed-citation><mixed-citation xml:lang="en">Fontana M, Pica S, Reant P, et al. Prognostic Value of Late Gadolinium Enhancement Cardiovascular Magnetic Resonance in Cardiac Amyloidosis. Circulation. 2015;132(16):1570-9. DOI:10.1161/CIRCULATIONAHA.115.016567.</mixed-citation></citation-alternatives></ref><ref id="cit14"><label>14</label><citation-alternatives><mixed-citation xml:lang="ru">Longhi S, Guidalotti PL, Quarta CC, et al. Identification of TTR-Related Subclinical Amyloidosis With 99mTc-­DPD Scintigraphy. JACC: Cardiovasc Imaging. 2014;7(5):531-2. DOI:10.1016/j.jcmg.2014.03.004.</mixed-citation><mixed-citation xml:lang="en">Longhi S, Guidalotti PL, Quarta CC, et al. Identification of TTR-Related Subclinical Amyloidosis With 99mTc-­DPD Scintigraphy. JACC: Cardiovasc Imaging. 2014;7(5):531-2. DOI:10.1016/j.jcmg.2014.03.004.</mixed-citation></citation-alternatives></ref><ref id="cit15"><label>15</label><citation-alternatives><mixed-citation xml:lang="ru">Гудкова А. Я., Амелин А. В., Крутиков А. Н., и др. Val30Met-транстиретиновая амилоидная полиневропатия и кардиомиопатия (обзор литературы и клиническое наблюдение). Consilium Medicum. 2017; 19(12):109-16. DOI:10.26442/2075-1753_19.12.109-116.</mixed-citation><mixed-citation xml:lang="en">Gudkova AYa, Amelin AV, Krutikov AN, et al. Val30Met-transthyrethin amyloid polyneuropathy and cardiomyopathy (review of literature and case report). Consilium Medicum. 2017;19(12):109-16 (In Russ.) DOI:10.26442/2075-1753_19.12.109-116.</mixed-citation></citation-alternatives></ref></ref-list><fn-group><fn fn-type="conflict"><p>The authors declare that there are no conflicts of interest present.</p></fn></fn-group></back></article>
