患有充血性心力衰竭的非裔美国人中的转甲状腺素蛋白V122I - Suppr

Transthyretin V122I in African Americans with congestive heart failure.

作者信息

Buxbaum Joel, Jacobson Daniel R, Tagoe Clement, Alexander Alice, Kitzman Dalane W, Greenberg Barry, Thaneemit-Chen Surai, Lavori Philip

出版信息

J Am Coll Cardiol. 2006 Apr 18;47(8):1724-5. doi: 10.1016/j.jacc.2006.01.042. Epub 2006 Mar 29.

DOI:10.1016/j.jacc.2006.01.042

PMID:16631014

Abstract

摘要

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Transthyretin V122I in African Americans with congestive heart failure.患有充血性心力衰竭的非裔美国人中的转甲状腺素蛋白V122I

J Am Coll Cardiol. 2006 Apr 18;47(8):1724-5. doi: 10.1016/j.jacc.2006.01.042. Epub 2006 Mar 29.

The amyloidogenic V122I transthyretin variant in elderly black Americans.老年美国黑人中的淀粉样变V122I转甲状腺素蛋白变体

N Engl J Med. 2015 Jan 1;372(1):21-9. doi: 10.1056/NEJMoa1404852.

V122I transthyretin variant in elderly black Americans.美国老年黑人中的V122I转甲状腺素蛋白变体

N Engl J Med. 2015 Apr 30;372(18):1769. doi: 10.1056/NEJMc1503222.

V122I transthyretin variant in elderly black Americans.老年美国黑人中的V122I转甲状腺素蛋白变体

N Engl J Med. 2015 Apr 30;372(18):1768. doi: 10.1056/NEJMc1503222.

V122I transthyretin variant in elderly black Americans.老年美国黑人中的V122I转甲状腺素蛋白变体

N Engl J Med. 2015 Apr 30;372(18):1769. doi: 10.1056/NEJMc1503222.

Transthyretin V122I (pV142I)* cardiac amyloidosis: an age-dependent autosomal dominant cardiomyopathy too common to be overlooked as a cause of significant heart disease in elderly African Americans.转甲状腺素蛋白 V122I（pV142I）*心脏淀粉样变性：一种与年龄相关的常染色体显性遗传性心肌病，在老年非裔美国人中因显著心脏病而被忽视的常见病因。

Genet Med. 2017 Jul;19(7):733-742. doi: 10.1038/gim.2016.200. Epub 2017 Jan 19.

Significance of the amyloidogenic transthyretin Val 122 Ile allele in African Americans in the Arteriosclerosis Risk in Communities (ARIC) and Cardiovascular Health (CHS) Studies.载脂蛋白淀粉样变转甲状腺素 Val122Ile 等位基因在动脉粥样硬化风险社区（ARIC）和心血管健康（CHS）研究中的非洲裔美国人中的意义。

Am Heart J. 2010 May;159(5):864-70. doi: 10.1016/j.ahj.2010.02.006.

Association of the V122I Hereditary Transthyretin Amyloidosis Genetic Variant With Heart Failure Among Individuals of African or Hispanic/Latino Ancestry.V122I 遗传性转甲状腺素蛋白淀粉样变性基因突变与非洲裔或西班牙裔/拉丁裔个体心力衰竭的关联。

JAMA. 2019 Dec 10;322(22):2191-2202. doi: 10.1001/jama.2019.17935.

Relation of clinical, echocardiographic and electrocardiographic features of cardiac amyloidosis to the presence of the transthyretin V122I allele in older African-American men.老年非裔美国男性心脏淀粉样变的临床、超声心动图和心电图特征与转甲状腺素蛋白 V122I 等位基因的关系。

Am J Cardiol. 2011 Aug 1;108(3):440-4. doi: 10.1016/j.amjcard.2011.03.069. Epub 2011 May 19.

Cardiac amyloidosis in African Americans: comparison of clinical and laboratory features of transthyretin V122I amyloidosis and immunoglobulin light chain amyloidosis.非裔美国人的心脏淀粉样变性：转甲状腺素蛋白V122I淀粉样变性与免疫球蛋白轻链淀粉样变性的临床和实验室特征比较

Am Heart J. 2009 Oct;158(4):607-14. doi: 10.1016/j.ahj.2009.08.006.

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Risk for Heart Failure and Atrial Fibrillation Across the Lifespan for Carriers of the Amyloidogenic p.V142I Variant.淀粉样变p.V142I变异携带者一生中发生心力衰竭和心房颤动的风险

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Precision Medicine: Personalizing Healthcare by Bridging Aging, Genetics, and Global Diversity.精准医学：通过弥合衰老、遗传学和全球多样性实现医疗保健个性化。

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Utilization rates and determinants of PYP and CMR among patients with unexplained left ventricular hypertrophy on echocardiography.超声心动图显示原因不明的左心室肥厚患者中PYP和CMR的利用率及决定因素。

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J Clin Med. 2025 Jun 13;14(12):4208. doi: 10.3390/jcm14124208.

Incidence and associated factors with atrial fibrillation in patients with transthyretin amyloidosis cardiomyopathy: Insights from the multicenter REACT-SP registry.转甲状腺素蛋白淀粉样变心肌病患者心房颤动的发生率及相关因素：来自多中心REACT-SP注册研究的见解

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Hereditary Transthyretin Cardiac Amyloidosis With the p.V142I Variant: Mechanistic Insights and Diagnostic Challenges.携带p.V142I变异的遗传性转甲状腺素蛋白心脏淀粉样变性：机制见解与诊断挑战

Circ Heart Fail. 2025 Jun;18(6):e012469. doi: 10.1161/CIRCHEARTFAILURE.124.012469. Epub 2025 Mar 14.

Evolving knowledge of red flag clinical features associated with TTR p.(Val142Ile) in a diverse electronic health-record-linked biobank.在一个与电子健康记录相关联的多样化生物样本库中，关于与转甲状腺素蛋白p.(Val142Ile)相关的危险临床特征的知识不断发展。

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Diagnostic Modalities in the Detection of Cardiac Amyloidosis.心脏淀粉样变性检测中的诊断方法

J Clin Med. 2024 Jul 12;13(14):4075. doi: 10.3390/jcm13144075.

2023 Expert Consensus of the Taiwan Society of Cardiology on the Diagnosis and Treatment of Cardiac Amyloidosis.台湾心脏病学会2023年心脏淀粉样变诊断与治疗专家共识

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Transthyretin V122I in African Americans with congestive heart failure.

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