Early identification of cardiac ATTR amyloidosis: a clinical case
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 amyloido...
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| Format: | Article |
| Language: | English |
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Столичная издательская компания
2024-07-01
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| Series: | Рациональная фармакотерапия в кардиологии |
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| Online Access: | https://www.rpcardio.online/jour/article/view/3031 |
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| author | A. A. Vedernikov E. M. Mezhonov N. Е. Shirokov V. A. Balina O. M. Reitblat D. V. Teffenberg S. V. Shalaev |
| author_facet | A. A. Vedernikov E. M. Mezhonov N. Е. Shirokov V. A. Balina O. M. Reitblat D. V. Teffenberg S. V. Shalaev |
| author_sort | A. A. Vedernikov |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-6bd34766cee441b8a962881a749c955a |
| institution | Kabale University |
| issn | 1819-6446 2225-3653 |
| language | English |
| publishDate | 2024-07-01 |
| publisher | Столичная издательская компания |
| record_format | Article |
| series | Рациональная фармакотерапия в кардиологии |
| spelling | doaj-art-6bd34766cee441b8a962881a749c955a2025-08-23T10:00:36ZengСтоличная издательская компанияРациональная фармакотерапия в кардиологии1819-64462225-36532024-07-0120335736610.20996/1819-6446-2024-30312216Early identification of cardiac ATTR amyloidosis: a clinical caseA. A. Vedernikov0E. M. Mezhonov1N. Е. Shirokov2V. A. Balina3O. M. Reitblat4D. V. Teffenberg5S. V. Shalaev6Regional Clinical Hospital No.1Regional Clinical Hospital No.1; Tyumen State Medical UniversityTomsk National Research Medical Center, Russian Academy of SciencesRegional Clinical Hospital No.1Regional Clinical Hospital No.1Tyumen Cardiology Research Center, Tomsk National Research Medical CenterRegional Clinical Hospital No.1; Tyumen State Medical UniversityProgress 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.https://www.rpcardio.online/jour/article/view/3031cardiac amyloidosistransthyretin amyloidosisscintigraphydiagnosisclinical case |
| spellingShingle | A. A. Vedernikov E. M. Mezhonov N. Е. Shirokov V. A. Balina O. M. Reitblat D. V. Teffenberg S. V. Shalaev Early identification of cardiac ATTR amyloidosis: a clinical case Рациональная фармакотерапия в кардиологии cardiac amyloidosis transthyretin amyloidosis scintigraphy diagnosis clinical case |
| title | Early identification of cardiac ATTR amyloidosis: a clinical case |
| title_full | Early identification of cardiac ATTR amyloidosis: a clinical case |
| title_fullStr | Early identification of cardiac ATTR amyloidosis: a clinical case |
| title_full_unstemmed | Early identification of cardiac ATTR amyloidosis: a clinical case |
| title_short | Early identification of cardiac ATTR amyloidosis: a clinical case |
| title_sort | early identification of cardiac attr amyloidosis a clinical case |
| topic | cardiac amyloidosis transthyretin amyloidosis scintigraphy diagnosis clinical case |
| url | https://www.rpcardio.online/jour/article/view/3031 |
| work_keys_str_mv | AT aavedernikov earlyidentificationofcardiacattramyloidosisaclinicalcase AT emmezhonov earlyidentificationofcardiacattramyloidosisaclinicalcase AT neshirokov earlyidentificationofcardiacattramyloidosisaclinicalcase AT vabalina earlyidentificationofcardiacattramyloidosisaclinicalcase AT omreitblat earlyidentificationofcardiacattramyloidosisaclinicalcase AT dvteffenberg earlyidentificationofcardiacattramyloidosisaclinicalcase AT svshalaev earlyidentificationofcardiacattramyloidosisaclinicalcase |