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Genotype and Phenot...
Genotype and Phenotype of Transthyretin Cardiac Amyloidosis THAOS (Transthyretin Amyloid Outcome Survey)
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Maurer, Mathew S. (författare)
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Hanna, Mazen (författare)
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Grogan, Martha (författare)
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Dispenzieri, Angela (författare)
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Witteles, Ronald (författare)
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Drachman, Brian (författare)
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Judge, Daniel P. (författare)
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Lenihan, Daniel J. (författare)
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Gottlieb, Stephen S. (författare)
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Shah, Sanjiv J. (författare)
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Steidley, D. Eric (författare)
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Ventura, Hector (författare)
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Murali, Srinivas (författare)
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Silver, Marc A. (författare)
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Jacoby, Daniel (författare)
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Fedson, Savitri (författare)
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Hummel, Scott L. (författare)
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Kristen, Arnt V. (författare)
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Damy, Thibaud (författare)
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Plante-Bordeneuve, Violaine (författare)
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Coelho, Teresa (författare)
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Mundayat, Rajiv (författare)
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- Suhr, Ole B. (författare)
- Umeå universitet,Medicin
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Cruz, Marcia Waddington (författare)
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Rapezzi, Claudio (författare)
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(creator_code:org_t)
- Elsevier BV, 2016
- 2016
- Engelska.
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Ingår i: Journal of the American College of Cardiology. - : Elsevier BV. - 0735-1097 .- 1558-3597. ; 68:2, s. 161-172
- Relaterad länk:
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https://doi.org/10.1...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Background: Transthyretin amyloidosis (ATTR) is a heterogeneous disorder with multiorgan involvement and a genetic or nongenetic basis.Objectives: The goal of this study was to describe ATTR in the United States by using data from 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 with data from patients from other regions of the world (ROW) (n = 2,140). The focus was on the phenotypic expression and survival in the majority of U.S. subjects with valine-to-isoleucine substitution at position 122 (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 the 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 (85%) of 107 patients with Val122Ile were from the United States, where Val122Ile subjects were younger and more often female and black than patients with wild-type disease, 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 transthyretin 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 male subjects with a cardiac-predominant phenotype. Val122Ile is the most common transthyretin mutation, and neurologic phenotypic expression differs between wild-type disease and Val122Ile, but survival from enrollment in THAOS does not. (Transthyretin-Associated Amyloidoses Outcome Survey [THAOS]; NCT00628745)
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Nyckelord
- aging
- amyloid
- transthyretin
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- ref (ämneskategori)
- art (ämneskategori)
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Maurer, Mathew S ...
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Hanna, Mazen
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Grogan, Martha
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Dispenzieri, Ang ...
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Witteles, Ronald
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Drachman, Brian
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Judge, Daniel P.
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Lenihan, Daniel ...
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Gottlieb, Stephe ...
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Shah, Sanjiv J.
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Steidley, D. Eri ...
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Ventura, Hector
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Murali, Srinivas
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Silver, Marc A.
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Jacoby, Daniel
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Fedson, Savitri
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Hummel, Scott L.
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Kristen, Arnt V.
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Damy, Thibaud
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Plante-Bordeneuv ...
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Coelho, Teresa
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Mundayat, Rajiv
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Suhr, Ole B.
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Cruz, Marcia Wad ...
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Rapezzi, Claudio
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visa färre...
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Umeå universitet