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1
Should We Systematically Screen for the Amyloidogenic V142I Variant?我们应该系统性地筛查淀粉样变V142I变体吗？
J Card Fail. 2025 Jan;31(1):136-139. doi: 10.1016/j.cardfail.2024.08.055. Epub 2024 Sep 19.
2
Transthyretin V142I Genetic Variant and Cardiac Remodeling, Injury, and Heart Failure Risk in Black Adults.转甲状腺素蛋白V142I基因变异与黑人成年人的心脏重塑、损伤及心力衰竭风险
JACC Heart Fail. 2022 Feb;10(2):129-138. doi: 10.1016/j.jchf.2021.09.006. Epub 2021 Dec 8.
3
Cardiovascular Burden of the V142I Transthyretin Variant.载脂蛋白 V142I 变异的心血管负担。
JAMA. 2024 Jun 4;331(21):1824-1833. doi: 10.1001/jama.2024.4467.
4
Peripheral Nervous System Involvement of Hereditary Transthyretin Amyloidosis in the United States: A Multi-Center Perspective.美国遗传性转甲状腺素蛋白淀粉样变性的外周神经系统受累：多中心视角
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Deep phenotyping of p.(V142I)-associated variant transthyretin amyloid cardiomyopathy: Distinct from wild-type transthyretin amyloidosis?V142I 相关变异转甲状腺素蛋白淀粉样心肌病的深度表型分析：与野生型转甲状腺素蛋白淀粉样变性不同？
Eur J Heart Fail. 2024 Feb;26(2):383-393. doi: 10.1002/ejhf.3088. Epub 2024 Jan 28.
6
Cardiovascular Risk Factors and Genetic Risk in Transthyretin V142I Carriers.转甲状腺素蛋白V142I携带者的心血管危险因素与遗传风险
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Late-Life Echocardiographic Effects of the Amyloidogenic p.V142I Transthyretin Variant.淀粉样前体蛋白p.V142I转甲状腺素变体对老年人生理超声心动图的影响
Circ Heart Fail. 2025 Jul;18(7):e013212. doi: 10.1161/CIRCHEARTFAILURE.125.013212. Epub 2025 May 18.
8
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.
9
Expanding the knowledge on transthyretin p.V142I variant-related cardiomyopathy.拓展关于转甲状腺素蛋白p.V142I变异相关心肌病的知识。
Eur J Heart Fail. 2024 Feb;26(2):394-396. doi: 10.1002/ejhf.3132. Epub 2024 Jan 28.
10
Non-Cardiac Amyloidosis Findings Are Not Increased in African American Carriers of V142I with Heart Failure and/or Arrhythmia.在患有心力衰竭和/或心律失常的V142I非洲裔美国携带者中，非心脏淀粉样变的发现并未增加。
J Pers Med. 2024 Feb 29;14(3):271. doi: 10.3390/jpm14030271.

引用本文的文献

1
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.
2
Race, Genetics, and Social Determinants of Health in Transthyretin Cardiac Amyloidosis: A Literature Review and Call to Action.转甲状腺素蛋白心脏淀粉样变中的种族、遗传学与健康的社会决定因素：文献综述与行动呼吁
Curr Cardiol Rep. 2025 Mar 5;27(1):66. doi: 10.1007/s11886-025-02220-z.

本文引用的文献

1
Uneven burden of cardiac amyloidosis in people of African descent - global imbalance in resources and access.非洲裔人群中心脏淀粉样变性的负担不均——全球资源与医疗可及性的失衡
BMC Glob Public Health. 2023 Sep 1;1(1):15. doi: 10.1186/s44263-023-00016-3.
2
Cardiovascular Burden of the V142I Transthyretin Variant.载脂蛋白 V142I 变异的心血管负担。
JAMA. 2024 Jun 4;331(21):1824-1833. doi: 10.1001/jama.2024.4467.
3
Clinical Penetrance of the Transthyretin V122I Variant in Older Black Patients With Heart Failure: The SCAN-MP (Screening for Cardiac Amyloidosis With Nuclear Imaging in Minority Populations) Study.老年黑人心力衰竭患者转甲状腺素蛋白 V122I 变异的临床外显率：SCAN-MP（少数民族人群核素成像筛查心脏淀粉样变性）研究。
J Am Heart Assoc. 2023 Aug;12(15):e028973. doi: 10.1161/JAHA.122.028973. Epub 2023 Jul 24.
4
Population Genomic Screening for Three Common Hereditary Conditions : A Cost-Effectiveness Analysis.三种常见遗传性疾病的人群基因组筛查：成本效益分析
Ann Intern Med. 2023 May;176(5):585-595. doi: 10.7326/M22-0846. Epub 2023 May 9.
5
2023 ACC Expert Consensus Decision Pathway on Comprehensive Multidisciplinary Care for the Patient With Cardiac Amyloidosis: A Report of the American College of Cardiology Solution Set Oversight Committee.2023年美国心脏病学会关于心脏淀粉样变性患者综合多学科护理的专家共识决策路径：美国心脏病学会解决方案集监督委员会报告
J Am Coll Cardiol. 2023 Mar 21;81(11):1076-1126. doi: 10.1016/j.jacc.2022.11.022. Epub 2023 Jan 23.
6
Prevalence and Outcomes of p.Val142Ile Amyloidosis Cardiomyopathy: A Systematic Review.瓦尔 142 异亮氨酸淀粉样变心肌病的患病率和结局：系统评价。
Circ Genom Precis Med. 2021 Oct;14(5):e003356. doi: 10.1161/CIRCGEN.121.003356. Epub 2021 Aug 31.
7
Cost-Effectiveness of Tafamidis Therapy for Transthyretin Amyloid Cardiomyopathy.塔法米迪治疗转甲状腺素淀粉样心肌病的成本效益。
Circulation. 2020 Apr 14;141(15):1214-1224. doi: 10.1161/CIRCULATIONAHA.119.045093. Epub 2020 Feb 12.
8
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.
9
Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans.美国黑人迟发性心脏淀粉样变性中的变异序列甲状腺素运载蛋白（异亮氨酸122）
N Engl J Med. 1997 Feb 13;336(7):466-73. doi: 10.1056/NEJM199702133360703.

我们应该系统性地筛查淀粉样变V142I变体吗？

Should We Systematically Screen for the Amyloidogenic V142I Variant?

作者信息

Regan Jessica A, Khouri Michel G, Olabisi Opeyemi A, Alexander Kevin M, Khan Sadiya S, Shah Svati H, Selvaraj Senthil

机构信息

Division of Cardiology, Duke University School of Medicine, Durham, NC; Duke Molecular Physiology Institute, Duke University School of Medicine, Durham, NC.

Division of Cardiology, Duke University School of Medicine, Durham, NC.

出版信息

J Card Fail. 2025 Jan;31(1):136-139. doi: 10.1016/j.cardfail.2024.08.055. Epub 2024 Sep 19.

DOI:10.1016/j.cardfail.2024.08.055
PMID:39306232
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12163913/
Abstract

Is it time to employ systematic genetic screening for V142I transthyretin cardiac amyloidosis? Strategic research programs are needed to fill evidence gaps before meaningful and equitable implementation can begin to reduce health disparities and improve morbidity and mortality.

摘要

是时候对V142I转甲状腺素蛋白心脏淀粉样变进行系统性基因筛查了吗？在能够开始进行有意义且公平的实施以减少健康差距并改善发病率和死亡率之前，需要战略研究计划来填补证据空白。