Cardiac manifestations and prognostic implications of hereditary transthyretin amyloidosis associated with transthyretin Ala97Ser
Background: The cardiac manifestations of late-onset hereditary transthyretin amyloidosis with p.A97S variant have not been extensively studied, and the prognostic factors remain unclear. Methods: The clinical profile, echocardiography, and ECG of patients diagnosed with ATTR p.A97S polyneuropathy b...
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| Format: | Article |
| Language: | English |
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Elsevier
2020-03-01
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| Series: | Journal of the Formosan Medical Association |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S0929664619304899 |
| _version_ | 1798043690058383360 |
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| author | Hsing-Jung Lai Kuan-Chih Huang Yun-Chieh Liang Kuo-Liong Chien Ming-Jen Lee Sung-Tsang Hsieh Chi-Chao Chao Chih-Chao Yang |
| author_facet | Hsing-Jung Lai Kuan-Chih Huang Yun-Chieh Liang Kuo-Liong Chien Ming-Jen Lee Sung-Tsang Hsieh Chi-Chao Chao Chih-Chao Yang |
| author_sort | Hsing-Jung Lai |
| collection | DOAJ |
| description | Background: The cardiac manifestations of late-onset hereditary transthyretin amyloidosis with p.A97S variant have not been extensively studied, and the prognostic factors remain unclear. Methods: The clinical profile, echocardiography, and ECG of patients diagnosed with ATTR p.A97S polyneuropathy between 2000 and 2016 were retrospectively collected. 67 patients with ATTR p.A97S were collected. Results: A total of 82% of patients met the criteria for left ventricular (LV) hypertrophy. Reduced global longitudinal strain (GLS) was noted in 42.1% of patients, and 14% of patients had a relative apical sparing pattern. A low voltage pattern in the ECG was observed in 31.3% of patients, while 64.2% presented with a pseudoinfarction pattern. End-systolic LV inner dimension (HR: 2.25 (95% CI: 1.01–5.01), p = 0.048), reduced GLS (HR: 5.26 (1.08–25.0), p = 0.039), relative apical longitudinal strain (RALS>1, HR: 8.57 (1.69–43.3), p = 0.009), increased E/A ratio (HR: 6.51 (1.17–36.4), p = 0.033), and increased QRS duration (HR: 1.02 (1.00–1.04), p = 0.05) were correlated with reduced survival in univariate analysis. Multivariate analysis revealed reduced RALS was significantly correlated with reduced survival (HR: 13.00 (1.81–93.45), p = 0.011). Conclusion: Our findings reveal that ATTR p.A97S is a cardiomyopathy as well as a polyneuropathic syndrome. Routine use of more contemporary echocardiographic techniques are recommended to identify cardiac amyloidosis and provide prognostic information. Keywords: Hereditary transthyretin amyloidosis, Familial amyloidotic polyneuropathy, p.A97S, Global longitudinal strain |
| first_indexed | 2024-04-11T22:52:37Z |
| format | Article |
| id | doaj.art-59b0c59c701348f6a0f4b5c37887327b |
| institution | Directory Open Access Journal |
| issn | 0929-6646 |
| language | English |
| last_indexed | 2024-04-11T22:52:37Z |
| publishDate | 2020-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Journal of the Formosan Medical Association |
| spelling | doaj.art-59b0c59c701348f6a0f4b5c37887327b2022-12-22T03:58:32ZengElsevierJournal of the Formosan Medical Association0929-66462020-03-011193693700Cardiac manifestations and prognostic implications of hereditary transthyretin amyloidosis associated with transthyretin Ala97SerHsing-Jung Lai0Kuan-Chih Huang1Yun-Chieh Liang2Kuo-Liong Chien3Ming-Jen Lee4Sung-Tsang Hsieh5Chi-Chao Chao6Chih-Chao Yang7Department of Neurology, National Taiwan University Hospital, Taiwan; National Taiwan University Hospital, Jin-Shan Branch, TaiwanGraduate Institute of Clinical Medicine, National Taiwan University College of Medicine, Taipei, Taiwan; Division of Cardiology, Heart Center, Cheng- Hsin General Hospital, Taipei, TaiwanInstitute of Epidemiology and Preventive Medicine, National Taiwan University, TaiwanInstitute of Epidemiology and Preventive Medicine, National Taiwan University, Taiwan; Division of Cardiology, Department of Internal Medicine, National Taiwan University Hospital, TaiwanDepartment of Neurology, National Taiwan University Hospital, TaiwanDepartment of Neurology, National Taiwan University Hospital, TaiwanDepartment of Neurology, National Taiwan University Hospital, TaiwanDepartment of Neurology, National Taiwan University Hospital, Taiwan; Corresponding author. Department of Neurology, National Taiwan University Hospital, Taipei, 100, Taiwan. Fax: +886 2 23418395.Background: The cardiac manifestations of late-onset hereditary transthyretin amyloidosis with p.A97S variant have not been extensively studied, and the prognostic factors remain unclear. Methods: The clinical profile, echocardiography, and ECG of patients diagnosed with ATTR p.A97S polyneuropathy between 2000 and 2016 were retrospectively collected. 67 patients with ATTR p.A97S were collected. Results: A total of 82% of patients met the criteria for left ventricular (LV) hypertrophy. Reduced global longitudinal strain (GLS) was noted in 42.1% of patients, and 14% of patients had a relative apical sparing pattern. A low voltage pattern in the ECG was observed in 31.3% of patients, while 64.2% presented with a pseudoinfarction pattern. End-systolic LV inner dimension (HR: 2.25 (95% CI: 1.01–5.01), p = 0.048), reduced GLS (HR: 5.26 (1.08–25.0), p = 0.039), relative apical longitudinal strain (RALS>1, HR: 8.57 (1.69–43.3), p = 0.009), increased E/A ratio (HR: 6.51 (1.17–36.4), p = 0.033), and increased QRS duration (HR: 1.02 (1.00–1.04), p = 0.05) were correlated with reduced survival in univariate analysis. Multivariate analysis revealed reduced RALS was significantly correlated with reduced survival (HR: 13.00 (1.81–93.45), p = 0.011). Conclusion: Our findings reveal that ATTR p.A97S is a cardiomyopathy as well as a polyneuropathic syndrome. Routine use of more contemporary echocardiographic techniques are recommended to identify cardiac amyloidosis and provide prognostic information. Keywords: Hereditary transthyretin amyloidosis, Familial amyloidotic polyneuropathy, p.A97S, Global longitudinal strainhttp://www.sciencedirect.com/science/article/pii/S0929664619304899 |
| spellingShingle | Hsing-Jung Lai Kuan-Chih Huang Yun-Chieh Liang Kuo-Liong Chien Ming-Jen Lee Sung-Tsang Hsieh Chi-Chao Chao Chih-Chao Yang Cardiac manifestations and prognostic implications of hereditary transthyretin amyloidosis associated with transthyretin Ala97Ser Journal of the Formosan Medical Association |
| title | Cardiac manifestations and prognostic implications of hereditary transthyretin amyloidosis associated with transthyretin Ala97Ser |
| title_full | Cardiac manifestations and prognostic implications of hereditary transthyretin amyloidosis associated with transthyretin Ala97Ser |
| title_fullStr | Cardiac manifestations and prognostic implications of hereditary transthyretin amyloidosis associated with transthyretin Ala97Ser |
| title_full_unstemmed | Cardiac manifestations and prognostic implications of hereditary transthyretin amyloidosis associated with transthyretin Ala97Ser |
| title_short | Cardiac manifestations and prognostic implications of hereditary transthyretin amyloidosis associated with transthyretin Ala97Ser |
| title_sort | cardiac manifestations and prognostic implications of hereditary transthyretin amyloidosis associated with transthyretin ala97ser |
| url | http://www.sciencedirect.com/science/article/pii/S0929664619304899 |
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