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Isolated right ventricular endomyocardial fibrosis in a young male with chronic myeloid leukemia (RCD code: III‑3F.2) 1例年轻男性慢性髓性白血病患者孤立性右室心肌内膜纤维化(RCD代码:III‑3F.2)
Q4 Medicine Pub Date : 2017-07-05 DOI: 10.20418/JRCD.VOL3NO3.285
Fateh Ali Tipoo Sultan, Y. Hasan
Endomyocardial fibrosis (EMF) is a rare disease of unknown etiology which is more prevalent in tropical countries. EMF is associated with fibrosis of endomyocardium, involving one or both ventricles. It usually presents with heart failure and has a poor prognosis. The diagnosis is usually made on echocardiogram, however cardiac magnetic resonance (CMR) is ideal for the diagnosis of EMF. We report a rare case of right ventricular endomyocardial fibrosis in a young male with chronic myeloid leukemia but no eosinophilia. Right ventricular EMF was diagnosed on the basis of classic findings on CMR. JRCD 2017; 3 (3): 98–100.
心内膜肌纤维化(EMF)是一种病因不明的罕见疾病,多见于热带国家。EMF与心肌内膜纤维化有关,累及一个或两个心室。它通常表现为心力衰竭,预后不良。诊断通常是在超声心动图,但心脏磁共振(CMR)是理想的诊断EMF。我们报告一例罕见的右心室心内膜心肌纤维化的年轻男性慢性髓性白血病,但没有嗜酸性粒细胞增多。右室EMF是根据CMR的经典表现诊断的。JRCD 2017;3(3): 98-100。
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引用次数: 0
Broad QRS complex tachycardia in a patient with myotonic dystrophy (Steinert disease) (RCD code: V‑4O) 强直性肌营养不良(Steinert disease)患者的宽QRS复合心动过速(RCD代码:V‑40o)
Q4 Medicine Pub Date : 2017-07-05 DOI: 10.20418/JRCD.VOL3NO3.281
J. Majewski, J. Lelakowski
Myotonic dystrophy is a rare inherited condition affecting primarily skeletal muscles and commonly associated with cardiovascular pathology. We report a case of a 50- year old female with myotonic dystrophy type 1 who presented with wide‑QRS complex tachycardia and hemodynamic compromise which was treated with direct current cardioversion. Echocardiogram did not reveal any structural heart disease and coronary angiogram was normal. Electrocardiogram in sinus rhythm showed non‑specific intraventricular conduction delay and borderline PR interval. She refused cardioverter‑defibrillator (ICD) implantation and was discharged on oral amiodarone. The case report shows that life‑threatening arrhythmia could be the first cardiac manifestation in patients with myotonic dystrophy. JRCD 2017; 3 (3): 89–91.
肌强直性营养不良是一种罕见的遗传性疾病,主要影响骨骼肌,通常与心血管疾病有关。我们报告一例患有1型强直性肌营养不良症的50岁女性患者,其表现为宽QRS复合心动过速和血流动力学损害,并采用直流电复律治疗。超声心动图未见结构性心脏病,冠状动脉造影正常。窦性心律心电图显示非特异性脑室传导延迟和临界PR间期。她拒绝心脏转复除颤器(ICD)植入,并口服胺碘酮出院。病例报告显示,危及生命的心律失常可能是肌强直性营养不良患者的第一个心脏表现。JRCD 2017;3(3): 89-91。
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引用次数: 0
Exercise ECG unmasked Brugada sign: manifestation of the risk of sports‑associated sudden cardiac arrest (RCD code: V‑1A.1) 运动心电图显示Brugada征象:运动相关心脏骤停风险的表现(RCD代码:V - 1A.1)
Q4 Medicine Pub Date : 2017-07-05 DOI: 10.20418/JRCD.VOL3NO3.278
Tomasz Matusik, M. Komar, J. Podolec, G. Karkowski, J. Lelakowski, P. Podolec
Sports‑associated sudden cardiac arrest (SCA) constitutes an important problem. Causes of SCA during sport activities include Brugada syndrome (BrS) among others. We describe a 29‑year‑old male, without a history of cardiovascular disease, who suffered from SCA during football training and despite intensive treatment, after almost 4 weeks of hospitalization, unfortunately died. Detailed medical documentation review showed grade I atrioventricular block, intraventricular conduction abnormalities and BrS type 2 morphology of ST-segment elevation on resting 12‑lead electrocardiogram (ECG). The patient had a history of syncope during physical activity. Further echocardiographic study did not reveal significant structural heart disease. Submaximal exercise testing was performed and showed ventricular extrasystoles during physical activity and type 1 BrS morphology of ST-segment elevation during recovery phase. We compared observed ECG changes to those present in a healthy football player and described noticeable similarities. Exercise ECG testing, especially in patients after syncope of probable arrhythmic etiology, may unmask BrS ECG pattern and lead to BrS diagnosis. JRCD 2017; 3 (3): 92–97.
运动相关的心脏骤停(SCA)是一个重要的问题。体育运动中发生SCA的原因包括Brugada综合征(BrS)等。我们描述了一名29岁的男性,没有心血管疾病史,在足球训练期间患SCA,尽管接受了强化治疗,但在住院近4周后不幸死亡。详细的医学文献回顾显示静息12导联心电图(ECG)显示I级房室传导阻滞、室内传导异常和st段抬高的BrS 2型形态学。患者在体力活动时有晕厥史。进一步的超声心动图检查未发现明显的结构性心脏病。亚极限运动试验显示运动时室性心动过速和恢复期st段抬高的1型BrS形态。我们将观察到的心电图变化与健康足球运动员的心电图变化进行了比较,并描述了明显的相似之处。运动心电图检查,特别是在晕厥后可能有心律失常病因的患者中,可能揭示BrS心电图模式并导致BrS诊断。JRCD 2017;3(3): 92-97。
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引用次数: 11
Transcatheter closure of perimembranous ventricular septal defect with muscular VSD occluder after infective endocarditis in a patient with previous primum atrial septal defect closure, prosthetic aortic and mitral valves replacement. (RCD code IV‑2B.3) 感染性心内膜炎后肌性室间隔闭合术对原房间隔闭合术、假主动脉瓣和二尖瓣置换术患者的膜周室间隔缺损的治疗(RCD代码IV‑2B.3)
Q4 Medicine Pub Date : 2017-03-31 DOI: 10.20418/JRCD.VOL3NO2.277
A. Sarnecka, P. Weryński, P. Wilkołek, L. Tomkiewicz-Pajak, M. Brózda, P. Podolec
Ventricular septal defect (VSD) is the most common congenital heart defect at birth but is relatively rare in adult population. Apart from congenital, VSD may also be acquired. It can be caused by trauma, myocardial infarction or previous cardiac surgeries such as valvular replacements or VSD closure attempts. Surgical closure of VSD remains the treatment of choice while transcatheter closure could be considered in selected patients. Herein, we present a case of a 53-year-old man with symptomatic perimembranous VSD after infective endocarditis and a history of previous primum atrial septal defect closure and prosthetic aortic and mitral valves replacement. The VSD was successfully percutaneously closed across the prosthetic aortic valve. JRCD 2017; 3 (2): 59–64
室间隔缺损(VSD)是出生时最常见的先天性心脏缺陷,但在成年人群中相对罕见。除先天性外,室间隔缺损也可能是后天的。它可以由创伤、心肌梗死或以前的心脏手术引起,如瓣膜置换术或室间隔关闭尝试。手术关闭室间隔缺损仍然是治疗的选择,而经导管关闭可以考虑在选定的患者。在此,我们报告一例53岁男性,感染性心内膜炎后出现症状性膜周室间隔缺损,既往有原房间隔缺损关闭和假主动脉瓣和二尖瓣置换术史。通过人工主动脉瓣成功经皮关闭VSD。JRCD 2017;3 (2): 59-64
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引用次数: 1
Spontaneous coronary artery dissection secondary to intimal fibromuscular dysplasia (RCD code: I‑1C.O) 自发性冠状动脉剥离继发于内膜纤维肌肉发育不良(RCD代码:I‑1C.O)
Q4 Medicine Pub Date : 2017-03-31 DOI: 10.20418/JRCD.VOL3NO2.275
Tariq Hamza, F. Sharkey
Fibromuscular dysplasia (FMD) is a  nonatherosclerotic, noninflammatory arterial disease of unknown etiology. Histologically, FMD is classified on the basis of arterial layer involved into intimal, medial and perimedial types. The medial form represents approximately 80% of the cases of FMD, perimedial and intimal forms are rare and account for 10% and 5% of the cases respectively. Clinically, FMD can manifest as arterial stenosis, occlusion, aneurysm or dissection. Coronary artery manifestations of FMD are rare but potentially fatal. Most cases present as a dissection of the involved coronary artery or its branch, which clinically leads to unstable angina, myocardial infarction, left ventricular dysfunction, or potentially sudden cardiac death. Various recent studies have established FMD as the leading risk factor for Spontaneous Coronary Artery Dissection (SCAD). We present autopsy findings of a 71 year old woman who suffered a spontaneous dissection of the posterior descending artery secondary to FMD‑intimal type. The optimal diagnostic and treatment guidelines for SCAD secondary to FMD have not been established due to the lack of evidence. Further research into the pathogenesis, molecular and cellular biology, epidemiology and clinical management of FMD and its coronary artery manifestations is required. JRCD 2017; 3 (2): 56–58
纤维肌肉发育不良(FMD)是一种病因不明的非动脉粥样硬化、非炎症性动脉疾病。在组织学上,FMD根据累及的动脉层分为内膜型、内侧型和内周型。内侧形式约占口蹄疫病例的80%,内侧和内膜形式罕见,分别占病例的10%和5%。临床上可表现为动脉狭窄、闭塞、动脉瘤或夹层。口蹄疫的冠状动脉表现很少见,但可能致命。大多数病例表现为受累冠状动脉或其分支的剥离,临床上可导致不稳定型心绞痛、心肌梗死、左心室功能障碍或潜在的心源性猝死。最近的各种研究已经确定口蹄疫是自发性冠状动脉夹层(SCAD)的主要危险因素。我们报告了一名71岁女性的尸检结果,她遭受了FMD -内膜型继发的自发性后降支夹层。由于缺乏证据,尚未建立口蹄疫继发SCAD的最佳诊断和治疗指南。在口蹄疫发病机制、分子细胞生物学、流行病学、临床管理及冠状动脉表现等方面的研究有待进一步深入。JRCD 2017;3 (2): 56-58
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引用次数: 0
“A rare day to put rare diseases in the spotlight!” “With research possibilities are limitless” “罕见的一天让罕见疾病成为人们关注的焦点!“有了研究,可能性是无限的。”
Q4 Medicine Pub Date : 2017-03-31 DOI: 10.20418/JRCD.VOL3NO2.284
P. Podolec
Mottos of the Rare Disease Day Dear Readers, Just few days ago, on 28th February, the tenth edition of Rare Disease Day was launched by EURORDIS and its Council for National Alliances to attract thousands people all over the world to come together to advocate for more research on rare diseases. Rare Disease Day goes globally, where all stakeholders, including patients and families, patient organizations, politicians, carers, medical professionals, researchers and industry come together to raise awareness of rare diseases through thousands of events all over the world. Among many topics, patients’ involvement in research is getting momentum. Thanks to patients’ actions, such as advocacy for research, funding research, governance of research, and last but not least participate in research, actually resulted in more research. It has been numerously underlined that research in rare diseases is a key factor as it brings hope to the millions of people living with rare disease across the world and their families. There are numerous types of research and frameworks that are important to rare disease community, including: infrastructures such as registries (databases of patients with their clinical and genetic information) and biobanks (catalogues of human biological samples), basic research to identify the cause and mechanisms of rare diseases, translational research, which focuses on using the conclusions of basic research to develop therapeutics for patients living with a rare disease, clinical research, when medicinal products are tested in humans through clinical trials, and finally research into quality of life, working conditions, social needs, integration at school, as well as multidisciplinary education of social service providers. Hopefully, all those noble initiatives will move the field forward for the good of all patients and their families. In this first issue of the Journal in 2017, we start with an interesting Review on cardiac sarcoidosis. The Original paper comes from the study group involving several centers, specializing in the treatment of pulmonary hypertension (PH) and is about non-invasive assessment of hemodynamics in PH. Then, as usual, we have several clinical cases of rare cardiovascular diseases with informative discussions and overview of the problems. Finally, there is a report from the annual meeting of the European Association of Cardiovascular Imaging (EACVI) – EuroEcho.
亲爱的读者们,就在几天前,2月28日,EURORDIS及其国家联盟理事会发起了第十届罕见病日活动,以吸引全世界成千上万的人聚集在一起,倡导对罕见病进行更多的研究。罕见病日将在全球范围内举行,包括患者及其家属、患者组织、政治家、护理人员、医疗专业人员、研究人员和业界在内的所有利益攸关方将通过在世界各地举行的数千场活动,共同提高对罕见病的认识。在众多话题中,患者参与研究的势头正在增强。由于患者的行动,例如倡导研究,资助研究,管理研究,最后但并非最不重要的是参与研究,实际上导致了更多的研究。许多人强调,罕见病研究是一个关键因素,因为它给全世界数百万患有罕见病的人及其家庭带来了希望。有许多类型的研究和框架对罕见病社区很重要,包括:登记册(患者临床和遗传信息数据库)和生物库(人类生物样本目录)等基础设施、查明罕见病病因和机制的基础研究、转化研究(侧重于利用基础研究的结论为患有罕见病的患者开发治疗方法)、临床研究(通过临床试验对医药产品进行人体试验);最后研究了生活质量、工作条件、社会需求、学校融合以及多学科教育的社会服务提供者。希望所有这些崇高的倡议将推动该领域向前发展,造福所有患者及其家属。在2017年的第一期杂志中,我们从一篇关于心脏结节病的有趣综述开始。原始论文来自研究组,涉及多个中心,专门研究肺动脉高压(PH)的治疗,是关于肺动脉高压血流动力学的无创评估。然后,像往常一样,我们有几个罕见心血管疾病的临床病例,对问题进行了有益的讨论和概述。最后,还有一份来自欧洲心血管成像协会(EACVI) - EuroEcho年度会议的报告。
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引用次数: 0
Case report on aortic valve replacement in adult woman with systemic mastocytosis (RCD code: VIII) 成年女性系统性肥大细胞增多症主动脉瓣置换术1例(RCD代码:VIII)
Q4 Medicine Pub Date : 2017-03-31 DOI: 10.20418/JRCD.VOL3NO2.269
Monika Różewicz-Juraszek, T. Hryniewiecki, K. Faber, E. Abramczuk, E. Orłowska-Baranowska, P. Szymański
We present a case of a 50 year-old woman who was referred to our department with severe symptomatic aortic stenosis and systemic mastocytosis. Conventional mechanical aortic valve replacement was performed successfully with the  use of perioperative protocol based on dexamethasone, cetirizine and ranitidine. The only postoperative event was an onset of atrial fibrillation which was treated with amiodarone infusion. 8 days after surgery the patient was discharged home. JRCD 2017; 3 (2): 54–55
我们提出一个50岁的妇女谁被转介到我们的部门严重的症状性主动脉狭窄和全身肥大细胞增多症。采用以地塞米松、西替利嗪和雷尼替丁为基础的围手术期方案,常规机械主动脉瓣置换术成功。唯一的术后事件是心房颤动的发作,并给予胺碘酮输注治疗。术后8天患者出院回家。JRCD 2017;3 (2): 54-55
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引用次数: 3
The pilot study of role of electrical cardiometry in non‑invasive assessment of hemodynamic parameters in patients with pulmonary arterial hypertension (RCD code: II‑1A.1) 心电测量在肺动脉高压患者血流动力学参数无创评估中的作用的初步研究(RCD代码:II - 1A.1)
Q4 Medicine Pub Date : 2017-03-31 DOI: 10.20418/JRCD.VOL3NO2.270
R. Kazimierczyk, Jasiewicz, Marta Marcinkiewicz-Siemion, Knapp, A. Lisowska, Piotr, Sobkowicz, Jerzy, R. Grzywna, Karol Adam
Background: Electrical cardiometry (EC) technique could estimate cardiac output (CO), cardiac index (CI) and other parameters related to cardiac contractility and fluid status by measuring the thoracic electrical bioimpedance. We hypothesized that EC could assess right ventricle (RV) hemodynamic function in patients diagnosed with pulmonary arterial hypertension (PAH). Results: In our pilot study, enrolling 23 PAH patients, we observed a significant correlation (r = 0.71; p <0.001) between thermodilution CO measurement results (4.59 ±1.05 l/min) and CO results obtained by EC (4.86 ±1.20 l/min) and between systemic vascular resistance calculated by EC monitor and obtained during right heart catheterization (RHC) (r = 0.68; p = 0.002). Furthermore, EC parameter index of contractility (ICON) sig‑ nificantly correlated with tricuspid annular plane systolic excursion assessed by echocardiography (r = 0.57; p = 0.01). Conclusions: RHC cannot be replaced in obtaining accurate results of CO, however EC technique provides feasible insight into RV function at the bedside or outpatient care. JRCD 2017; 3 (2): 44–49
背景:心电测量技术(electrocardiometry, EC)可以通过测量胸电生物阻抗来估计心输出量(cardiac output, CO)、心脏指数(cardiac index, CI)等与心脏收缩力和体液状态相关的参数。我们假设EC可以评估肺动脉高压(PAH)患者的右心室(RV)血流动力学功能。结果:在我们的初步研究中,纳入了23例PAH患者,我们观察到显著相关性(r = 0.71;p <0.001),热溶CO测量结果(4.59±1.05 l/min)与EC测量结果(4.86±1.20 l/min)、EC监测计算的全身血管阻力与右心导管(RHC)测量结果(r = 0.68;p = 0.002)。此外,EC参数收缩性指数(ICON)与超声心动图评估的三尖瓣环形平面收缩偏移显著相关(r = 0.57;p = 0.01)。结论:RHC在获得准确的CO结果方面是不可替代的,但EC技术在床边或门诊护理中为RV功能提供了可行的见解。JRCD 2017;3 (2): 44-49
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引用次数: 0
Clinically silent, right and left ventricular outflow tract obstructions in an adult patient (RCD code: IV‑3A) 1例成人患者临床无症状,左右心室流出道梗阻(RCD代码:IV‑3A)
Q4 Medicine Pub Date : 2017-03-31 DOI: 10.20418/JRCD.VOL3NO2.268
M. Gierba, E. Kwiecień, Leszek Drabik, Paweł Heród, Monika Dzieciuch-Rojek, P. Iwaszczuk, W. Płazak
Right ventricular outflow tract obstruction is a narrowing of the way that conducts blood from the right ventricle to the pulmonary ar‑ tery. Left ventricular outflow tract obstruction is a stenosis of the path that leads blood from the left ventricle to the aorta. Combination of right and left ventricular outflow tract obstruction is a very rare finding. We report a case of a 67‑year‑old male with asymptomatic bi‑ ventricular outflow tract obstruction. We discuss the clinical presentation, diagnostic procedures, treatment opportunities for the patient based on review of literature and actual recommendations. JRCD 2017; 3 (2): 50–53
右心室流出道梗阻是指右心室向肺动脉供血通道变窄。左心室流出道梗阻是指血液从左心室流向主动脉的通道狭窄。左、右心室流出道梗阻合并是非常罕见的。我们报告一例67岁男性无症状双心室流出道梗阻。我们讨论临床表现,诊断程序,治疗机会的基础上回顾文献和实际建议的病人。JRCD 2017;3 (2): 50-53
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引用次数: 0
Highlights from EuroEcho-Imaging 2016 Congress of the European Society of Cardiology, Leipzig, Germany. 2016年德国莱比锡欧洲心脏病学会欧洲回声成像大会亮点。
Q4 Medicine Pub Date : 2017-03-31 DOI: 10.20418/JRCD.VOL3NO2.282
S. Wiśniowska-Śmiałek
EuroEcho-Imaging is the annual meeting of the European Association of Cardiovascular Imaging (EACVI), that attracts participants from all over the world with all modalities of cardiovascular non-invasive imaging. This time Congress was held in Leipzig in Germany, the city of two great artists Wilhelm Wagner and Johann Sebastian Bach. The Congress was attended by more than 3200 healthcare professionals from over 90 countries and it unified community of four imaging modalities, such as Echocardiography, Cardiovascular Magnetic Resonance, Nuclear Cardiology and Cardiac Computed Tomography under one entity. During four days of Congress over 140 scientific sessions, 20 hands-on sessions and 20 industry sponsored sessions and workshops took place. Attenders could take part in wide range of sessions dedicated to advanced imaging and had an opportunity to discussed with world-leading Imaging experts. There were over than 1250 abstracts and clinical cases submitted. Moreover participants could benefit with the certification exams and numerous courses, such as course on Congenital Heart Disease, Cardiac Resynchronization Therapy, three-dimensional echocardiography, n Imaging and Anesthesiology, Valvular Heart Disease, modern trans-catheter heart valve interventions, Cardiovascular Magnetic Resonance and finally course on Computed Tomography. The scientific programme addressed the latest developments in many fields of imaging but especially it highlighted the role of imaging in arrhythmias, aortic valve diseases and cardiomyopathies. The first theme was about he role of imaging in the prediction and stratification the risk of new or potentially life-threatening arrhythmias during the treatment .There was an interesting session entitled „“Walking dead”, in which the innovative and comprehensive approach to imaging after sudden cardiac death (SCD) was presented. The special attention was put towards the role of early imaging after SCD in ischaemic and non ischaemic diseases, and aslo in secondary prevention of SCD. There was also a session dedicated to imaging in atrial fibrillation: from diagnosis to treatment, which related to the new ESC/EACTS 2016 guidelines for the management of atrial fibrillation. The numerous aspects relating to aortic valve disease were addressed with many sessions dedicated to pathophysiology and classification of aortic valve diseases, changes in treatment, including new techniques such as percutaneous implantation of the valves, which have been adopted into the ESC Guidelines for Valvular Heart Disease. As EuroEcho Imaging Congress is a multimodality imaging meeting there were also lot of joint sessions with presentations of cardiac magnetic resonance imaging (CMR) and nuclear computed tomography (CT), as well as echocardiography which gave a different perspective on the same problems. Additionally, the scientific programme concentrated around the important issue of heart failure, highlighting many aspects of non-invasive imaging
一个特定的问题-二尖瓣病理-由超声心动图医师提出,他显示了一个问题的超声心动图图像,然后给出了手术视图。最后对成像结果进行了对比。这种情况与我们在临床实践中看到的情况非常吻合。最后,就我们自己的科学活动说几句。应该承认,我们在大会期间提交了这四份摘要。Magda博士Kaźnica-Wiatr在海报会议上提出了一个关于组织多普勒和斑点跟踪的问题:“右心房峰整体纵向应变在肺动脉高压患者的右心功能评估中有用吗?和三个由Sylwia Wiśniowska-Śmialek撰写的关于心肌病的海报会议:“扩张型心肌病左室反向重构与细胞外基质纤维化血清标志物的关系”,“无论使用何种定义,左室反向重构在纤维化阳性和阴性扩张型心肌病患者中并无差异”,“扩张型心肌病左室射血分数的改善与细胞外基质纤维化血清标志物相关”。
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引用次数: 0
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Journal of Rare Cardiovascular Diseases
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