The DOI matches its Crossref record; 34 of the 34 references it cites were found in a registry or an index.
Genotype and Phenotype of Transthyretin Cardiac Amyloidosis
Open accessAbstract
BACKGROUND Transthyretin amyloidosis (ATTR) is a heterogeneous disorder with multiorgan involvement and a genetic or nongenetic basis. OBJECTIVES We described ATTR in the United States in the THAOS (Transthyretin Amyloidosis Outcomes Survey) registry. METHODS Demographic, clinical, and genetic features of patients enrolled in the THAOS registry in the United States (n = 390) were compared to other regions of the world (ROW) (n = 2,140) with a focus on the phenotypic expression and survival in the majority of U.S. subjects with Val122Ile (n = 91) and wild-type ATTR (n = 189). RESULTS U.S. subjects are older (70 vs. 46 years), more often male (85.4% vs. 50.6%) and more often of African descent (25.4% vs. 0.5%) than ROW. A significantly higher percentage of U.S. patients with ATTR amyloid seen at cardiology sites had wild-type disease than the ROW (50.5% vs. 26.2%). In the United States, 34 different mutations (n = 201) have been reported, with the most common being Val122Ile (n = 91; 45.3%) and Thr60Ala (n = 41; 20.4%). Overall, 91 of 107 patients with Val122Ile (85%) were from the United States, where Val122Ile subjects were younger and more often women and black than wild-type patients, and had similar cardiac phenotype but a greater burden of neurologic symptoms (pain, numbness, tingling, and walking disability) and worse quality of life. Advancing age and lower mean arterial pressure, but not the presence of a TTR mutation, were independently associated with higher mortality from a multivariate analysis of survival. CONCLUSIONS In the THAOS registry, ATTR in the United States is overwhelmingly a disorder of older adult males with a cardiac-predominant phenotype. Val122Ile is the most common TTR mutation, and neurologic phenotypic expression differs between wild-type disease and Val122Ile, but survival from enrollment in THAOS does not. CLINICAL TRIAL NCT00628745
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Echocardiographic assessment of left ventricular hypertrophy: Comparison to necropsy findings
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Wild-type transthyretin amyloidosis as a cause of heart failure with preserved ejection fraction
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Coelho, T., Adams, D., Silva, A., Lozeron, P., Hawkins, P. N., Mant, T., Perez, J., Chiesa, J., Warrington, S., Tranter, E., et al. (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1208760 · Cited by 971
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Metadata
- Authors
- Maurer, M. S., Hanna, M., Grogan, M., Dispenzieri, A., Witteles, R., Drachman, B., Judge, D. P., Lenihan, D. J., Gottlieb, S. S., Shah, S. J., Steidley, D. E., Ventura, H., Murali, S., Silver, M. A., Jacoby, D., Fedson, S., Hummel, S. L., Kristen, A. V., Damy, T., Planté-Bordeneuve, V., Coelho, T., Mundayat, R., Suhr, O. B., Waddington Cruz, M., & Rapezzi, C.
- Venue
- Journal of the American College of Cardiology
- Publisher
- Elsevier BV
- Published
- 2016-07
- Volume
- 68
- Issue
- 2
- Pages
- 161-172
- ISSN
- 0735-1097 (ISSN-L)
- OpenAlex
- W2465483060
- Cited by
- 538
- References
- 34
- FWCI
- 14.14
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Maurer, M. S., Hanna, M., Grogan, M., Dispenzieri, A., Witteles, R., Drachman, B., Judge, D. P., Lenihan, D. J., Gottlieb, S. S., Shah, S. J., Steidley, D. E., Ventura, H., Murali, S., Silver, M. A., Jacoby, D., Fedson, S., Hummel, S. L., Kristen, A. V., Damy, T., . . . Rapezzi, C. (2016). Genotype and Phenotype of Transthyretin Cardiac Amyloidosis. Journal of the American College of Cardiology. https://doi.org/10.1016/j.jacc.2016.03.596
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