Cardiac manifestations and prognostic implications of hereditary transthyretin amyloidosis associated with transthyretin Ala97Ser
| Autor: | Hsing-Jung Lai, Kuan-Chih Huang, Yun-Chieh Liang, Kuo-Liong Chien, Ming-Jen Lee, Sung-Tsang Hsieh, Chi-Chao Chao, Chih-Chao Yang |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: | |
| Zdroj: | Journal of the Formosan Medical Association, Vol 119, Iss 3, Pp 693-700 (2020) |
| Druh dokumentu: | article |
| ISSN: | 0929-6646 37887327 |
| DOI: | 10.1016/j.jfma.2019.08.027 |
| Popis: | 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 |
| Databáze: | Directory of Open Access Journals |
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