bicuspid aortic valve

二叶主动脉瓣
  • 文章类型: Case Reports
    我们提出了一个独特的临床情况,一名58岁的男性,有高血压病史,最初表现为胸痛,被诊断为非ST段抬高型心肌梗死(NSTEMI),但迅速发展为继发于主动脉瓣关闭不全并发心源性休克(CS)的呼吸衰竭。归因于主动脉瓣脱垂。有趣的是,患者的心电图正常,强调瓣膜病理学的动态性质。CS的发展凸显了早期识别的重要性,及时诊断,在如此复杂的情况下进行跨学科管理。
    We present a unique clinical scenario of a 58-year-old male with a past medical history of hypertension who initially presented with chest pain and was ruled in for non-ST elevation myocardial infarction (NSTEMI) but rapidly developed respiratory failure secondary to aortic insufficiency complicated by cardiogenic shock (CS), attributed to aortic valve prolapse. Intriguingly, the patient had a normal ECG on presentation, underscoring the dynamic nature of valvular pathology. The development of CS highlights the importance of early recognition, prompt diagnosis, and interdisciplinary management in such complex cases.
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  • 文章类型: Case Reports
    一名37岁的男性患有2型糖尿病,因新发心力衰竭和肾功能不全被送往医院。他的左心室(LV)射血分数小于10%。经胸超声心动图和心血管磁共振(CMR)成像也显示严重的二叶主动脉瓣狭窄,扩张型心肌病伴左心室肥大,突出的左心室小梁,和特征提示轻度心肌炎伴活动性炎症。虽然在CMR成像中怀疑心肌炎,他轻度的心肌受累并不能解释他的全部临床表现,左心室功能障碍程度,或其他结构异常。对他的左心室功能障碍进行了广泛的检查,对缺血来说并不明显,新陈代谢,渗透,传染性,有毒,肿瘤学,结缔组织,和自身免疫性病因。肌球蛋白重链7(MYH7)变体的基因检测呈阳性,这被认为可能是他表现的统一病因。MYH7肌节基因允许β-肌球蛋白在心室中表达,与肥大和扩张型心肌病相关的变异,先天性心脏病,心肌炎,和过度的小梁形成(以前称为左心室不紧密)。这个案例突出了可以呈现MYH7基因变异的各种心脏病变,并回顾了年轻患者心力衰竭的这种不寻常表现的广泛工作。
    A 37-year-old male with type two diabetes presented to the hospital with new-onset heart failure and renal dysfunction. His left ventricular (LV) ejection fraction was less than 10%. Transthoracic echocardiography and cardiovascular magnetic resonance (CMR) imaging also revealed severe bicuspid aortic valve stenosis, dilated cardiomyopathy with LV hypertrophy, prominent LV trabeculations, and features suggestive of mild myocarditis with active inflammation. While myocarditis was suspected on CMR imaging, his mild degree of myocardial involvement did not explain the entirety of his clinical presentation, degree of LV dysfunction, or other structural abnormalities. An extensive work-up for his LV dysfunction was unremarkable for ischemic, metabolic, infiltrative, infectious, toxic, oncologic, connective tissue, and autoimmune etiologies. Genetic testing was positive for a myosin heavy chain 7 (MYH7) variant, which was deemed likely to be a unifying etiology underlying his presentation. The MYH7 sarcomere gene allows beta-myosin expression in heart ventricles, with variants associated with hypertrophic and dilated cardiomyopathies, congenital heart diseases, myocarditis, and excessive trabeculation (formerly known as left ventricular noncompaction). This case highlights the diverse array of cardiac pathologies that can present with MYH7 gene variants and reviews an extensive work-up for this unusual presentation of heart failure in a young patient.
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  • 文章类型: Case Reports
    脂乳链球菌是一种非运动的革兰氏阳性,过氧化氢酶阴性球菌,D组链球菌的一部分。在文学中,有文献记载,美国无流菌是感染性心内膜炎的病原体,仅在其他四例病例中通过血液培养证明,代表了极其罕见的情况。这里,我们描述了一例年轻的患者,该患者因动脉粥样硬化链球菌引起的感染性心内膜炎,该患者已知患有二叶主动脉瓣,并伴有乙状结肠癌前息肉。该患者还已知患有血液高血压和II型糖尿病。首次亮相时的症状阴险地出现,并且是非特异性的:疲劳,食欲不振,减肥,盗汗,和发烧。它们持续了整个疾病期间,在抗生素疗程中短暂改善。他遵循了更多的抗生素疗程,用于各种临床诊断。每一轮抗生素治疗都暂时缓解了症状,每次停止后都会再次出现。在首次临床表现出现后仅约三个月就做出了正确的诊断。这是基于超声标准(植被的存在和主动脉瓣尖的病变)和微生物学标准(血液培养物中的白乳杆菌的分离)。为期六周的头孢曲松治疗被认为是合适的抗生素治疗。与文献中描述的所有其他情况类似,我们的患者出现了瓣膜组织的重要损伤,需要进行心脏手术以重建瓣膜的正常功能.手术包括切除严重受影响的天然主动脉瓣,并用机械人工瓣膜进行置换。经过内科和外科治疗,病人完全痊愈,生活正常。我们的病例值得注意,因为在感染性心内膜炎的病因中,鼻烟链球菌的参与很少。这是发表的第五例这种病因,本文提供了所有五个案例的概述。
    Streptococcus alactolyticus is a non-motile Gram-positive, catalase-negative cocci, a part of group D Streptococci. In the literature, S. alactolyticus is documented as a causative agent of infective endocarditis, demonstrated by blood cultures in only four other cases, representing an extremely rare circumstance. Here, we describe a case of infective endocarditis due to S. alactolyticus in a young patient known with a bicuspid aortic valve and associated with a sigmoid precancerous polyp. The patient was also known to have blood hypertension and type II diabetes. Symptoms at the debut appeared insidiously and were non-specific: fatigue, loss of appetite, weight loss, night sweats, and fever. They lasted for the entire period of the illness with transient improvement during the courses of antibiotics. He followed more antibiotic courses prescribed for various clinical diagnoses. Each round of antibiotic treatment transitorily alleviated the symptoms, which reappeared each time after the cessation. The correct diagnosis was made only about three months after the appearance of the first clinical manifestations. This was based on ultrasound criteria (presence of vegetation and lesions of aortic cusps) and microbiological criteria (isolation of S. alactolyticus in blood cultures). A course of six weeks of ceftriaxone was considered the opportune antibiotic therapy. Similar to all other cases described in the literature, our patient presented important damage to the valvular tissue and required cardiac surgery to re-establish the normal function of the valve. The surgery consisted of the excision of the severely affected natural aortic valve and her replacement with a mechanical prosthetic valve. Following medical and surgical treatment, the patient is completely healed and has a normal life. Our case is noteworthy because of the scarcity of the involvement of S. alactolyticus in the pathogeny of infective endocarditis. This is the fifth published case with this etiology, and an overview of all five cases is provided in the article.
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  • 文章类型: Case Reports
    继发性完全性房室传导阻滞的病因包括缺血,心脏结节病,电解质不平衡,吸毒,风湿热,以及莱姆病和心内膜炎等感染。诊断很重要,因为其中一些原因是可逆的。尽管有一些研究报道了主动脉瓣钙化导致完全房室传导阻滞,没有研究描述通过清除钙化可以改善完全性房室传导阻滞.
    一名42岁晕厥患者患有MobitzII型房室传导阻滞,交替的束分支块,和严重的主动脉瓣狭窄.我们确定了10s前晕厥的阵发性完全性房室传导阻滞,并进行了起搏器植入。心电图门控计算机断层扫描证实钙化已到达肌间隔。18F-氟脱氧葡萄糖-正电子发射断层扫描(FDG-PET)显示FDG明显摄取,基底室间隔钙化的CT值较高。小心地去除隔膜中的钙化,并进行了主动脉瓣置换术.术后房室传导能力改善。在为期一年的随访中,患者报告运动能力显著改善.我们还注意到右心室起搏负荷的改善<0.1%。
    主动脉瓣狭窄伴主动脉瓣严重钙化的患者会发生完全房室传导阻滞,通过超声心动图全面可视化。心电图门控计算机断层扫描和FDG-PET可以详细评估钙化程度以及手术前后组织炎症。因此,我们怀疑隔膜钙化导致了完全房室传导阻滞.此外,临床医生应认识到主动脉瓣钙化伴主动脉瓣狭窄可引起完全性房室传导阻滞.
    UNASSIGNED: The aetiology of secondary complete atrioventricular blocks includes ischaemia, cardiac sarcoidosis, electrolyte imbalance, drug use, rheumatic fever, and infections such as Lyme disease and endocarditis. Diagnosis is important since some of these causes are reversible. Although several studies have reported on aortic valve calcification causing complete atrioventricular blocks, no study has described improvement of complete atrioventricular blocks by removal of the calcification.
    UNASSIGNED: A 42-year-old man with syncope had a Mobitz type II atrioventricular block, an alternating bundle branch block, and severe aortic stenosis. We identified a 10 s paroxysmal complete atrioventricular block with pre-syncope and performed pacemaker implantation. Electrocardiography-gated computed tomography confirmed that the calcification had reached the muscular septum. 18F-fluorodeoxyglucose-positron emission tomography (FDG-PET) revealed significant FDG uptake with high CT value of calcification in basal interventricular septum. The calcification in the septum was removed carefully, and aortic valve replacement was performed. The atrioventricular conduction capacity improved post-surgery. During the 1-year follow-up, the patient reported dramatic improvement in exercise capacity. We also noted an improvement of <0.1% in the right ventricular pacing burden.
    UNASSIGNED: Complete atrioventricular blocks occur in patients with aortic stenosis accompanied by severe calcification of the aortic valve, which are visualized comprehensively by echocardiography. Electrocardiography-gated computed tomography and FDG-PET enabled detailed evaluation of the extent of calcification and pre- and post-operative tissue inflammation. Hence, we suspected that the calcification in the septum was causing complete atrioventricular block. Moreover, clinicians should recognize that aortic valve calcification with aortic stenosis can cause complete atrioventricular blocks.
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  • 文章类型: Case Reports
    在二叶主动脉瓣(BAV)患者的牙科工作之前进行抗生素预防目前是一个有争议的问题。由于BAV被认为是感染性心内膜炎(IE)的“中等”风险,因此美国牙科协会不要求那些患有天然BAV的患者在牙科工作之前接受抗生素预防。我们介绍一个63岁的男性,有BAV病史,在最初出现症状前四个月进行常规牙齿清洁后获得血链球菌IE。他在就诊时表现出新发和严重的主动脉瓣反流,需要紧急主动脉瓣置换术以恢复瓣膜功能。BAV患者患IE的风险很高,强调在牙齿清洁中需要预防性抗生素,以及患有BAV的患者的侵入性牙科程序。
    Antibiotic prophylaxis prior to dental work in bicuspid aortic valve (BAV) patients is currently a matter of debate. The American Dental Association does not require those with native BAV to receive antibiotic prophylaxis prior to dental work as BAV is considered an \"intermediate\" risk for infective endocarditis (IE). We present the case of a 63-year-old male, with a medical history of BAV, who acquired Streptococcus sanguinis IE after a routine dental cleaning four months prior to initial onset of symptoms. He exhibited new-onset and severe aortic regurgitation at presentation, requiring urgent aortic valve replacement to restore valve function. BAV patients are at high risk of IE, emphasizing the need for prophylactic antibiotics in dental cleaning as well as invasive dental procedures in those with BAV.
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  • 文章类型: Case Reports
    Baraitser-Winter综合征(BRWS)是一种罕见的遗传性疾病,由ACTB和ACTG1基因突变引起。它的特点是智力残疾,身体畸形,和畸形的颅面特征。此外,心血管异常也可能存在。我们介绍了一例15岁男孩的BRWS与先天性二叶主动脉瓣和严重的主动脉瓣关闭不全有关,并通过Ross手术成功治疗。
    Baraitser-Winter syndrome (BRWS) is a rare genetic disorder caused by mutations in the ACTB and ACTG1 genes. It is characterized by intellectual disability, physical malformations, and dysmorphic craniofacial features. Additionally, cardiovascular abnormalities may also be present. We present a case of a 15-year-old boy with BRWS associated with congenital bicuspid aortic valve and severe aortic insufficiency which was managed successfully with Ross procedure.
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  • 文章类型: Case Reports
    妊娠期间无症状的严重主动脉瓣狭窄(AS)仍然具有挑战性;然而,以瓣膜成形术作为桥接疗法的可能性推迟手术似乎是合理的。我们的案例表明,尽管怀孕期间有生理变化,主动脉瓣缺损没有恶化,这使我们避免了与人工瓣膜抗凝相关的困境。
    一个31岁的女人,有一个二叶主动脉,主动脉瓣切开术后,因为严重的主动脉瓣狭窄被列为心脏手术。然而,由于生育计划,手术被推迟。在怀孕和分娩期间,我们既没有观察到症状的恶化,也没有观察到超声心动图参数的变化.随后的每月超声心动图研究未显示峰值和平均主动脉梯度的显着增加。提交的病例报告显示,尽管与怀孕相关的生理变化,主动脉瓣缺损没有恶化,这可以避免与人工瓣膜抗凝相关的困境。
    UNASSIGNED: Asymptomatic severe aortic stenosis (AS) during pregnancy remains challenging; however, the postponement of surgery with the possibility of valvuloplasty as a bridge therapy seems reasonable. Our case showed that despite physiological changes during pregnancy, the aortic valve defect did not worsen, which allowed us to avoid dilemmas related to anticoagulation on artificial valve.
    UNASSIGNED: A 31-year-old woman, with a bicuspid aortic aorta, post-aortic valvulotomy, was listed for cardiac surgery because of severe aortic stenosis. However, the operation was postponed due to procreation plans. During the pregnancy and delivery, we did not observe neither deterioration of symptoms nor changes of echocardiographic parameters. Subsequent monthly echocardiographic studies did not reveal a significant increase of peak and mean aortic gradient.Presented case reports showed that despite physiological changes associated with pregnancy, the aortic valve defect did not worsen, which allowed to avoid dilemmas related to anticoagulation on artificial valves.
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  • 文章类型: Case Reports
    二叶主动脉瓣(BAV)是一种常见的解剖变异,主动脉瓣具有两个功能性瓣尖。胸骨裂是一种罕见的先天性畸形,由胸骨骨融合失败引起。建议早期手术修复;否则,应采用替代手术技术。由于它们的生物相容性和弹性,可以使用3D打印的聚醚醚酮(PEEK)植入物。完全胸骨裂与BAV共存很少见。
    一位49岁的男性,有6个月的阵发性呼吸急促和劳累性胸闷病史。该男子被诊断为BAV,伴有严重的主动脉瓣反流和完全的胸骨裂。他使用牛心包主动脉瓣进行了主动脉瓣置换手术。同时,进行了3D打印的PEEK植入手术以解决胸骨裂。患者术后恢复顺利。
    在这种情况下,3D打印的PEEK植入物用于高生物相容性和弹性模量。然而,因为PEEK材料本身缺乏生物活性,加强这方面仍然是临床研究的重点。
    UNASSIGNED: Bicuspid aortic valve (BAV) is a common anatomical variation that the aortic valve possesses two functional cusps. Sternal cleft is a rare congenital malformation which is caused by failed fusion of sternal bones. Early surgical repair is advised; otherwise, alternative surgical techniques should be performed. Due to their biocompatibility and elasticity, 3D-printed polyether ether ketone (PEEK) implants can be used. Complete sternal cleft coexistence with BAV is infrequent.
    UNASSIGNED: A 49-year-old man with a 6-month history of paroxysmal shortness of breath and exertional chest tightness presented to our hospital. The man was diagnosed with BAV with severe aortic valve regurgitation and a complete sternal cleft. He underwent aortic valve replacement surgery using the bovine pericardial aortic valve. Concurrently, a 3D-printed PEEK implant surgery was performed to address the sternal cleft. The patient\'s postoperative recovery was uneventful.
    UNASSIGNED: In this case, 3D-printed PEEK implants were used for high biocompatibility and elastic modulus. However, because PEEK material inherently lacks biological activity, enhancing this aspect remains a focal point of clinical research.
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  • 文章类型: Case Reports
    UNASSIGNED: Infective endocarditis is associated with significant morbidity and mortality. Oral trauma through dental procedures can result in infective endocarditis through displacement of commensal organisms into the bloodstream. Streptococcus gordonii is an oral commensal and is rarely implicated as a cause of infective endocarditis but should be considered in febrile patients with a recent history of odontological procedures.
    UNASSIGNED: We present a case of a previously healthy 26-year-old woman who presented with a 2-month history of fevers. Blood cultures on admission were positive for S. gordonii. Echocardiography demonstrated a congenital bicuspid aortic valve with vegetations and abscess, supporting a diagnosis of infective endocarditis. A magnetic resonance imaging (MRI) brain revealed a small cerebral empyema. She was treated with intravenous antibiotics and underwent an aortic valve replacement.
    UNASSIGNED: Bicuspid aortic valve predisposes to infective endocarditis, and these patients have higher incidence of requiring cardiac surgery. Streptococcus gordonii belongs to the viridans group streptococci that are recognized as causative organisms for infective endocarditis particularly where dental sources are suspected. Patients with infective endocarditis may develop neurological sequelae including cerebrovascular accidents or central nervous system infections. If risk of haemorrhagic transformation is low, surgical intervention for valve replacement should not be delayed.
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  • 文章类型: Case Reports
    主动脉瓣狭窄是世界上最常见的心脏瓣膜疾病之一,对生活质量有重大影响。虽然有几种病因,我们将讨论一个男性的案例,他在东南亚血统的30岁左右,患有二叶主动脉瓣,被发现是功能性单叶,并发主动脉扩张。在对文献进行全面回顾之后,这类主动脉瓣狭窄似乎并不常见.除了展示这个迷人的案例,我们将回顾流行病学,主动脉狭窄的分类和处理。此外,我们将研究有关二叶主动脉瓣和单叶主动脉瓣的最新循证文献,并讨论可能改善临床预后的干预措施和诊断工具.
    Aortic stenosis is one of the most prevalent cardiac valvular diseases throughout the world and has a significant impact on quality of life. While there are several etiologies, we will be discussing the case of a male in his mid-thirties of southeast Asian descent with a bicuspid aortic valve which was found to be functionally unicuspid and complicated by aortic dilation. Following a comprehensive review of literature, it appears this subset of aortic stenosis is not commonly encountered. In addition to presenting this fascinating case, we will review the epidemiology, classification and management of aortic stenosis. Furthermore, we will examine the latest evidence-based literature on bicuspid aortic valve and unicuspid aortic valve and discuss interventions and diagnostic tools that may improve clinical prognosis.
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