心肌淀粉样变性 myocardial amyloidosis - PubMed 文献(第 2 页)
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心肌淀粉样变性 的 PubMed 搜索结果(第 2 页)
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11. Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1.
11. 由变异载脂蛋白A1引起的遗传性淀粉样心肌病PMID:日期:1999-01[中文摘要] 常染色体显性遗传性淀粉样变性具有独特的皮肤和心脏表现，并在第六或第七个十年因心力衰竭而死亡，被发现与载脂蛋白A1（apoA1）基因第4外显子中一个此前未报道的点突变（胸腺嘧啶变为胞嘧啶，nt 1389）相关。通过对从心脏淀粉样沉积物中分离的淀粉样蛋白进行结构分析，证实了第90位氨基酸处脯氨酸替代亮氨酸的预测。该亚基蛋白仅由变异型apoA1的NH2端片段组成，其中最长的片段终止于野生型序列的第94位残基。源自此前描述的四种apoA1变异体的淀粉样原纤维由类似的片段组成，具有羧基端异质性，但与这些均携带一个额外正电荷的变异体相反，Leu90Pro替换并未导致任何电荷改变。因此，淀粉样原纤维的形成不太可能与前体蛋白某一特定残基的电荷变化有关。这与转甲状腺素蛋白淀粉样变性的研究一致，后者未发现诸如氨基酸残基电荷变化之类的统一因素。
[英文摘要] Autosomal dominant hereditary amyloidosis with a unique cutaneous and cardiac presentation and death from heart failure by the sixth or seventh decade was found to be associated with a previously unreported point mutation (thymine to cytosine, nt 1389) in exon 4 of the apolipoprotein A1 (apoA1) gene. The predicted substitution of proline for leucine at amino acid position 90 was confirmed by structural analysis of amyloid protein isolated from cardiac deposits of amyloid. The subunit protein is composed exclusively of NH2-terminal fragments of the variant apoA1 with the longest ending at residue 94 in the wild-type sequence. Amyloid fibrils derived from four previously described apoA1 variants are composed of similar fragments with carboxyl-terminal heterogeneity, but contrary to those variants, which all carry one extra positive charge, the substitution Leu90Pro does not result in any charge modification. It is unlikely, therefore, that amyloid fibril formation is related to change of charge for a specific residue of the precursor protein. This is in agreement with studies on transthyretin amyloidosis in which no unifying factor such as change of charge for amino acid residues has been noted.
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12. [Suspected cardiac amyloidosis - diagnostic steps for evaluation].
12. [疑似心脏淀粉样变性——评估的诊断步骤]PMID:日期:2020-08-13[中文摘要] 心脏淀粉样变性是心肌病的一种罕见病因，但它是一种诊断不足的潜在系统性疾病的组成部分。对于转甲状腺素蛋白（ATTR）淀粉样变性，其由错误折叠的转甲状腺素蛋白沉积所致，可为野生型（wtATTR）或突变型（mATTR），近期新的循证治疗选择已被证明可减缓疾病进展并降低心力衰竭住院率。因此，对ATTR淀粉样变性心脏受累进行早期可靠的诊断十分重要。现代无创影像学（心脏磁共振（CMR）和闪烁显像方法）结合免疫固定及游离轻链测定，可实现心脏淀粉样变性的快速可靠临床筛查，而心内膜心肌活检和基因检测则用于确认基础诊断。除心内科外，纳入血液肿瘤科、神经科、肾内科的跨学科团队对于实现个体化靶向治疗策略至关重要。
[英文摘要] Cardiac amyloidosis is a rare cause of cardiomyopathy, however, it is part of an underdiagnosed underlying systemic disease. For transthyretin (ATTR) amyloidosis, which is caused by the deposition of incorrectly folded transthyretin, either as the wild-type (wtATTR) or mutated (mATTR) form, novel evidence-based treatment options were recently shown to reduce disease progression as well as hospitalisation rates for heart failure. Thus, it is important to establish early and reliable diagnosis of cardiac involvement with ATTR amyloidosis.Modern non-invasive imaging (cardio magnetic resonance (CMR) and scintigraphic methods) together with immune fixation with determination of free light chains allow fast and reliable clinical screening for cardiac amyloidosis, whereas endomyocardial biopsy and genetics are used for confirmation of the underlying diagnosis. Interdisciplinary teams including hemato-oncology, neurology, nephrology in addition to cardiology are essential to enable personalized targeted treatment strategies.
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13. Autonomic nervous system and cardiac involvement in familial amyloidosis, Finnish type (FAF).
13. 家族性淀粉样变性芬兰型(FAF)中的自主神经系统和心脏受累PMID:日期:1994-10[中文摘要] 家族性淀粉样变性芬兰型（FAF）是一种与凝溶胶蛋白相关的遗传性系统性淀粉样变性。我们报告了一项纳入30例FAF患者（18例女性，12例男性，年龄27~74岁，平均53.9岁）的研究中的自主神经系统和心脏表现。心血管反射试验显示，与健康对照相比，FAF患者的心率变异性显著降低。28例FAF患者中有9例发现体位性低血压，而69例对照中仅3例出现。临床检查以及放射学、超声心动图和心电图检查中，淀粉样心肌病的体征罕见。组织学和免疫组化研究显示，在3例尸检的FAF患者的自主神经系统结构和心脏组织中存在淀粉样物质沉积，并呈现针对凝溶胶蛋白相关FAF淀粉样蛋白亚基的免疫反应性。结果表明，FAF中可发现轻微的自主神经系统功能障碍，而具有临床意义的淀粉样心肌病或自主神经病变并非该型淀粉样变性的特征。
[英文摘要] Familial amyloidosis, Finnish type (FAF), is a gelsolin-related inherited systemic amyloidosis. We report autonomic nervous system and cardiac findings in a study of 30 FAF patients (18 females, 12 males aged 27-74 years; mean 53.9 years). Cardiovascular reflex tests showed a significant decrease in heart rate variation in FAF patients compared with healthy controls. Orthostatic hypotension was found in 9 of 28 FAF patients, but only in 3 of 69 controls. Signs of amyloid cardiopathy were rare at clinical examination and in radio-, echocardio- and electrocardiographic examinations. Histological and immunohistochemical studies revealed amyloid deposition and immunoreactivity against the gelsolin-related FAF amyloid subunit in autonomic nervous system structures and in cardiac tissue in 3 autopsied FAF patients. The results show that minor autonomic nervous system dysfunction can be found in FAF, while clinically significant amyloid cardiopathy or autonomic neuropathy is not characteristic of this type of amyloidosis.
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14. Spectrum of Restrictive and Infiltrative Cardiomyopathies: Part 1 of a 2-Part Series.
14. 限制性和浸润性心肌病的谱系：2部分系列的第1部分PMID:日期:2018-03-13[中文摘要] 限制型心肌病是心肌疾病中最少见的一种类型。其特征可分为浸润性和非浸润性、贮积性疾病以及心内膜心肌疾病。遗传性疾病通常在儿童期或青春期发病。然而，越来越多的射血分数保留型心力衰竭老年患者被认识到患有某种形式的限制型心肌病，尤其是心脏淀粉样变性。在大多数疑似病因的诊断评估中，无创性评估已取代心内膜心肌活检。对浸润性心肌病（包括溶酶体和糖原贮积障碍、铁过载以及淀粉样变性——包括轻链淀粉样变性和转甲状腺素蛋白淀粉样变性变异型）以及炎症性疾病如结节病的检出，已通过疾病特异性治疗逐步改善了预后。
[英文摘要] Restrictive cardiomyopathies are the least common form of heart muscle disease. They are characterized as infiltrative and noninfiltrative, storage diseases, and endomyocardial disorders. Genetic diseases commonly present during childhood or adolescence. However, a growing percentage of elderly patients with heart failure with preserved ejection fraction are being recognized as having forms of restrictive cardiomyopathy, particularly cardiac amyloidosis. Noninvasive evaluation has replaced endomyocardial biopsy in the diagnostic evaluation of most suspected etiologies. The detection of infiltrative cardiomyopathies, including lysosomal and glycogen storage disorders, iron overload, and amyloidosis (both light chain amyloidosis and transthyretin amyloidosis variants), as well as inflammatory diseases such as sarcoidosis has slowly led to improved outcomes via disease-specific therapies.
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15. Tissue characterization in cardiac amyloidosis: a joint consensus document by the gruppo di studio di cardiopatologia (SIAPEC) and the SIC/ANMCO Italian cardiac amyloidosis network (RIAC).
15. 心脏淀粉样变性的组织特征：心脏病学研究小组（SIAPEC）和SIC/ANMO意大利心脏淀粉样变网络（RIAC）的联合共识文件PMID:日期:2026-01-30[中文摘要] 心脏淀粉样变性（CA）是一种浸润性心肌病，由异常三维构象的蛋白质纤维在心肌中沉积所致。针对两种最常见类型——轻链淀粉样变性（AL）和转甲状腺素蛋白淀粉样变性（ATTR）——的靶向治疗的出现，使得及时识别淀粉样蛋白并准确分型成为不可或缺的环节。尽管部分ATTR病例可通过无创影像学方法获得诊断，但对于许多ATTR患者以及所有AL或更罕见CA变异型患者而言，通过外周组织或心内膜心肌活检进行诊断确认仍然是基础。可用的辅助分型技术包括免疫组织化学、免疫荧光、免疫电镜和质谱分析，每种技术各有其特定优势和局限性。本综述阐述了当前组织分析的适应证，并比较了淀粉样蛋白分型的各种选择，旨在为临床实践提供相关指导。
[英文摘要] Cardiac amyloidosis (CA) is an infiltrative cardiomyopathy caused by the accumulation of protein fibrils with an abnormal 3D configuration in the myocardium. The introduction of targeted therapies for the two most common forms, light-chain amyloidosis (AL) and transthyretin amyloidosis (ATTR), has made prompt recognition and accurate typing of the amyloid protein indispensable. Although in some ATTR cases a diagnosis can be reached with noninvasive imaging methods, diagnostic confirmation by peripheral or endomyocardial biopsy remains fundamental for many patients with ATTR and for all those with AL or rarer CA variants. The available typing complementary techniques are immunohistochemistry, immunofluorescence, immune electron microscopy, and mass spectrometry, each with specific strengths and limitations. This review describes the current indications for tissue analysis and compares the options for amyloid typing, with the aim of providing guidance relevant to clinical practice.
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16. Codeposition of apolipoprotein A-IV and transthyretin in senile systemic (ATTR) amyloidosis.
16. 老年系统性(ATTR)淀粉样变性中载脂蛋白A-IV和转甲状腺素蛋白的共沉积PMID:日期:2001-07-27[中文摘要] 从一位老年系统性淀粉样变性患者经福尔马林固定和石蜡包埋的心脏组织中富含淀粉样物的区域提取了蛋白质物质，已知该患者的主要淀粉样原纤维蛋白为野生型转甲状腺素蛋白。对该物质的胰蛋白酶肽进行氨基酸序列分析，除转甲状腺素蛋白序列外，还发现了与载脂蛋白A-IV N端片段相对应的氨基酸序列。在免疫组织化学中，针对合成载脂蛋白A-IV肽的抗血清特异性标记了淀粉样物。该肽在体外自发形成淀粉样样原纤维，并促进野生型转甲状腺素蛋白形成原纤维。我们得出结论，包括载脂蛋白A-IV在内的几种载脂蛋白可能是重要的次要淀粉样成分，促进原纤维形成。
[英文摘要] Protein material was extracted from amyloid-rich sections of formalin-fixed and paraffin-embedded heart tissue from an individual with senile systemic amyloidosis, known to contain wild-type transthyretin as major amyloid fibril protein. Amino acid sequence analysis of tryptic peptides of this material revealed in addition to transthyretin sequences, also amino acid sequence corresponding to an N-terminal fragment of apolipoprotein A-IV. In immunohistochemistry, an antiserum to a synthetic apolipoprotein A-IV peptide labeled amyloid specifically. This peptide formed spontaneously amyloid-like fibrils in vitro and enhanced fibril formation from wild-type transthyretin. We conclude that several apolipoproteins, including apolipoprotein A-IV, may be important minor amyloid constituents, promoting fibril formation.
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17. Colocalization of apolipoprotein AI in various kinds of systemic amyloidosis.
17. 载脂蛋白AI在多种系统性淀粉样变性中的共定位PMID:期刊:日期:2005-02[中文摘要] 载脂蛋白AI（apoAI）是高密度脂蛋白的主要成分，也是主要的淀粉样原纤维蛋白之一，并且是阿尔茨海默病中观察到的老年斑的次要成分。本研究检测了apoAI在不同类型系统性淀粉样变性中的共定位情况。在48份经福尔马林固定、石蜡包埋的、患有各种形式系统性淀粉样变性的心脏标本中，有43份与抗人apoAI抗体发生免疫组织化学阳性反应。通过免疫印迹法，在水提取的淀粉样物质中也检测到了apoAI。此外，我们在人apoAI转基因小鼠中观察到apoAI与鼠淀粉样A（AA）淀粉样变性的共定位。这是首次报道apoAI与多种形式的人系统性淀粉样变性以及人apoAI转基因小鼠中鼠AA淀粉样变性中的淀粉样沉积物共定位。即使apoAI存在于系统性淀粉样沉积物中，它也可能并不总是淀粉样原纤维的主要成分。
[英文摘要] Apolipoprotein AI (apoAI), a major component of high-density lipoproteins, is one of the major amyloid fibril proteins and a minor constituent of the senile plaques observed in Alzheimer's disease. We examined colocalization of apoAI in various kinds of systemic amyloidosis in this study. Forty-three of 48 formalin-fixed paraffin-embedded heart specimens with various forms of systemic amyloidosis reacted immunohistochemically with anti-human apoAI antibody. ApoAI was also detected in water-extracted amyloid material by immunoblotting. In addition, we observed colocalization of apoAI and murine amyloid A (AA) amyloidosis in human apoAI transgenic mice. This is the first report of colocalization of apoAI with amyloid deposits in various forms of human systemic amyloidosis and murine AA amyloidosis in human apoAI transgenic mice. ApoAI may not always be a major component of amyloid fibrils, even when it is present in systemic amyloid deposits.
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18. The assessment of autonomic function in patients with systemic amyloidosis: methodological considerations.
18. 系统性淀粉样变性患者自主神经功能的评估：方法学考量PMID:期刊:日期:1998-09[中文摘要] 自主神经病变是系统性淀粉样变性众所周知且具有预后意义的重要特征。在其他疾病中，自主神经功能通常通过Ewing描述的心血管反射试验进行评估，但这些试验在系统性淀粉样变性患者中的可行性尚未得到研究。我们采用心血管试验研究淀粉样变性患者的自主神经功能并评估其可行性。AA型、AL型和ATTR型淀粉样变性患者参与了研究。所有患者均进行了心血管反射试验（除Ewing试验外，还包括心算应激试验和头高位倾斜试验）。在纳入的46例患者中，仅28例能够完成全部4项Ewing试验。特别是继发于类风湿关节炎的AA型淀粉样变性患者无法完成站立试验和等长握力试验。然而，当以精神应激试验替代握力试验、以头高位倾斜试验替代站立试验时，46例患者中有45例可通过心血管反射试验评估自主神经功能。半数AA型淀粉样变性患者存在自主神经病变的征象——这一比例高于预期。我们建议，对于无法完成等长握力试验和站立试验的患者，分别以心算应激试验和头高位倾斜试验替代。
[英文摘要] Autonomic neuropathy is a well-known and prognostically important feature of systemic amyloidosis. In other conditions, autonomic function is commonly assessed by cardiovascular reflex tests, described by Ewing, but the feasibility of these tests has not been investigated in patients with systemic amyloidosis. We studied autonomic function in amyloidotic patients using cardiovascular tests and assessed their feasibility. Patients with AA, AL and ATTR amyloidosis participated. In all patients, cardiovascular reflex testing (mental arithmetic stress test and head-up tilting, besides the Ewing-tests) was performed. Of the 46 patients included, only 28 patients could perform all 4 Ewing-tests. In particular, patients with AA amyloidosis secondary to rheumatoid arthritis could not perform standing up and the isometric handgrip test. However, when the mental stress test replaced the handgrip test and head-up tilting replaced standing up, in 45 of the 46 patients, autonomic function could be assessed with cardiovascular reflex tests. Half of the patients with AA amyloidosis had signs of autonomic neuropathy--which was more than expected. We propose to replace the isometric handgrip test with the mental arithmetic stress test and standing up with head-up tilting if a patient is not able to perform these tests.
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19. Mechanisms of damage and therapies for cardiac amyloidosis: a role for inflammation?
19. 心脏淀粉样变性的损伤机制和治疗：炎症的作用？PMID:日期:2024-08-21[中文摘要] 心脏淀粉样变性（cardiac amyloidosis，CA）是指由不同疾病导致的细胞外淀粉样物质沉积于心脏，这些疾病常累及多个器官，包括脑、肾和肝。值得注意的是，心脏受累显著影响淀粉样变性的预后，其中心脏生物标志物在预后分层中发挥关键作用。由于对常规心力衰竭治疗反应有限，治疗管理面临挑战，需要采取旨在预防、阻止或逆转淀粉样物质沉积的靶向策略。CA中器官损伤的机制是多因素的，涉及蛋白毒性、氧化应激和机械干扰。尽管炎症在CA中的作用尚未完全明确，但新出现的证据提示其可能促进疾病进展，并可作为治疗靶点。本综述报告了系统性淀粉样变性中的心脏受累情况、其预后作用及评估方法。将对当前及新兴的治疗方法进行批判性讨论，强调需要进一步努力以阐明CA的病理生理学。同时还将综述提示炎症促进疾病进展及其预后作用的新兴证据，这可能为CA的新型治疗途径提供启示。
[英文摘要] The term cardiac amyloidosis (CA) refers to the accumulation of extracellular amyloid deposits in the heart because of different conditions often affecting multiple organs including brain, kidney and liver. Notably, cardiac involvement significantly impacts prognosis of amyloidosis, with cardiac biomarkers playing a pivotal role in prognostic stratification. Therapeutic management poses a challenge due to limited response to conventional heart failure therapies, necessitating targeted approaches aimed at preventing, halting or reversing amyloid deposition. Mechanisms underlying organ damage in CA are multifactorial, involving proteotoxicity, oxidative stress, and mechanical interference. While the role of inflammation in CA remains incompletely understood, emerging evidence suggests its potential contribution to disease progression as well as its utility as a therapeutic target. This review reports on the cardiac involvement in systemic amyloidosis, its prognostic role and how to assess it. Current and emerging therapies will be critically discussed underscoring the need for further efforts aiming at elucidating CA pathophysiology. The emerging evidence suggesting the contribution of inflammation to disease progression and its prognostic role will also be reviewed possibly offering insights into novel therapeutic avenues for CA.
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20. Zebrafish model of amyloid light chain cardiotoxicity: regeneration versus degeneration.
20. 淀粉样轻链心脏毒性的斑马鱼模型：再生与退化PMID:日期:2019-03-15[中文摘要] 心脏功能障碍是克隆性免疫球蛋白轻链(LC)所致的淀粉样轻链(AL)型淀粉样变性中最常见的致病和致死原因。此前已发表的AL型淀粉样变性转基因动物模型未能重现AL型淀粉样变性中所见的心脏功能障碍这一关键表型,这限制了我们在体内对该病机制的理解以及靶向AL治疗方法的开发。我们建立了一种转基因斑马鱼模型,在该模型中,来源于AL型淀粉样变性患者的λ轻链在Gal4上游激活序列增强子系统的调控下于肝脏中被条件性表达。这些转基因斑马鱼循环轻链水平为125 µg/ml,与病理性血清轻链中位水平相当。功能分析将异常的收缩功能与心脏中细胞和分子蛋白毒性的证据联系起来,包括细胞死亡和自噬增加。然而,尽管具有与人类AL相似的病理和功能表型,转基因鱼的寿命与未表达AL-LC转基因的对照鱼相当。核标记实验提示转基因鱼心脏增殖增加,而使用小分子增殖抑制剂治疗可抵消这一效应,但因心脏凋亡和功能恶化导致斑马鱼死亡率增加。该转基因斑马鱼模型为进一步在体内研究AL疾病机制提供了平台。心力衰竭是淀粉样轻链(AL)型淀粉样变性的主要致死原因,但一直难以在动物中建模。我们报道了建立一种AL型淀粉样变性转基因斑马鱼模型,其循环人轻链蛋白达到病理浓度并导致心脏功能障碍。轻链毒性触发斑马鱼心脏再生,从而在生命早期产生功能代偿,但随着年龄增长则发展为心脏功能障碍。
[英文摘要] Cardiac dysfunction is the most frequent cause of morbidity and mortality in amyloid light chain (AL) amyloidosis caused by a clonal immunoglobulin light chain (LC). Previously published transgenic animal models of AL amyloidosis have not recapitulated the key phenotype of cardiac dysfunction seen in AL amyloidosis, which has limited our understanding of the disease mechanisms in vivo, as well as the development of targeted AL therapeutics. We have developed a transgenic zebrafish model in which a λ LC derived from a patient with AL amyloidosis is conditionally expressed in the liver under the control of the Gal4 upstream activation sequence enhancer system. Circulating LC levels of 125 µg/ml in these transgenic zebrafish are comparable to median pathological serum LC levels. Functional analysis links abnormal contractile function with evidence of cellular and molecular proteotoxicity in the heart, including increased cell death and autophagy. However, despite pathological and functional phenotypes analogous to human AL, the lifespan of the transgenic fish is comparable to control fish without the expressed AL-LC transgene. Nuclear labeling experiments suggest increased cardiac proliferation in the transgenic fish, which can be counteracted by treatment with a small molecule proliferation inhibitor leading to increased zebrafish mortality because of cardiac apoptosis and functional deterioration. This transgenic zebrafish model provides a platform to study underlying AL disease mechanisms in vivo further. Heart failure is a major cause of mortality in amyloid light (AL) amyloidosis, yet it has been difficult to model in animals. We report the generation of a transgenic zebrafish model for AL amyloidosis with pathological concentration of circulating human light chain protein that results in cardiac dysfunction. The light chain toxicity triggers regeneration in the zebrafish heart resulting in functional compensation early in life, but with age develops into cardiac dysfunction.