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Experience with nifekalant hydrochloride in a patient with ischemic cardiomyopathy and severe ventricular dysfunction after dor operation. 盐酸尼非卡兰特治疗缺血性心肌病合并严重室性功能障碍1例。
Pub Date : 2004-07-01 DOI: 10.1536/jhj.45.691
Kiyokazu Kokaji, Masahiko Okamoto, Kentaro Hotoda, Hiroya Kumamaru

A 52-year-old male with ischemic cardiomyopathy and severe ventricular dysfunction underwent coronary artery bypass grafting and left ventricular reconstruction (Dor operation). The patient developed acute onset of incessant ventricular tachycardia in the early postoperative period that was refractory to therapy with class I antiarrhythmic agents, and multiple attempts at electrical cardioversion were required. A combination of intravenous nifekalant hydrochloride and enteral amiodarone was elected as treatment for this recurrent incessant ventricular tachycardia. Nifekalant hydrochloride was administered as a loading dose (0.3 mg/kg/5 min), followed by an intravenous infusion (0.4 mg/kg/hr). Several days after initiating therapy, the patient no longer experienced episodes of ventricular tachycardia, and there was no compromise in hemodynamics. We conclude that nifekalant hydrochloride is a useful agent for suppression of ventricular tachycardia in patients with severe left ventricular dysfunction, especially during the early postoperative period.

52岁男性缺血性心肌病合并严重心室功能障碍患者行冠状动脉旁路移植术及左心室重建术(Dor手术)。患者术后早期出现急性发作的不间断室性心动过速,I类抗心律失常药物治疗难治性,需要多次尝试电复律。静脉注射盐酸尼非卡兰特和肠内胺碘酮联合治疗这种复发性不间断室性心动过速。盐酸尼非卡兰特作为负荷剂量(0.3 mg/kg/5 min),然后静脉输注(0.4 mg/kg/hr)。开始治疗几天后,患者不再经历室性心动过速发作,血流动力学也没有受损。我们得出结论,盐酸尼非卡兰特是抑制严重左心室功能障碍患者室性心动过速的有效药物,特别是在术后早期。
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引用次数: 3
Is carotid atherosclerosis more important in patients with mitral annular calcification than in those without? 有二尖瓣环钙化的患者颈动脉粥样硬化是否比没有二尖瓣环钙化的患者更重要?
Pub Date : 2004-07-01 DOI: 10.1536/jhj.45.603
Basri Amasyali, Sedat Kose, Kudret Aytemir, Nadir Barindik, Mutlu Saglam, Ayhan Kilic, Gulcan Abali, Atila Iyisoy, Hurkan Kursaklioglu, Ersoy Isik

It has been suggested that mitral annular calcification (MAC) may be a manifestation of generalized atherosclerosis. However, how the incidence and extent of coronary artery disease (CAD) are affected by the coexistence of carotid atherosclerosis (CAS) in patients with versus without MAC have not yet been studied. We studied 101 patients with echocardiographic MAC and 52 controls without MAC to investigate the clinical impact of CAS on the frequency and severity (defined as the number of obstructed vessels) of CAD in patients with MAC. Carotid Doppler ultrasonographic examination was performed on all patients before coronary angiography. In patients with both MAC and CAS, the incidences of CAD and multivessel disease (> or = 2 vessel or left main coronary artery disease) were significantly higher than in the control group with CAS alone (91% versus 68%, P = 0.008 and 76% versus 44%, P = 0.004, respectively). On the other hand, among study and control patients without CAS, although the frequencies of CAD and multivessel disease were higher in patients with MAC, interestingly, the differences were not statistically significant (37% versus 58% and 15% versus 26%, respectively, P > 0.05 for both). Stepwise multiple logistic regression analysis revealed that CAS (P < 0.001), MAC (P < 0.01) and, to a limited extent hypertension (P = 0.054), were independent predictors for the presence of CAD. In conclusion, the coexistence of CAS is more important in patients with MAC than in those without as it provides valuable information about the incidence and severity of underlying CAD. In cases with MAC but without CAS, MAC could be caused by factors other than atherosclerosis.

有人认为二尖瓣环钙化(MAC)可能是全身性动脉粥样硬化的一种表现。然而,颈动脉粥样硬化(CAS)共存对MAC患者与非MAC患者冠状动脉疾病(CAD)的发生率和范围的影响尚没有研究。我们研究了101例超声心动图MAC患者和52例没有MAC的对照组,以研究CAS对MAC患者冠心病发生频率和严重程度(定义为阻塞血管的数量)的临床影响。所有患者在冠状动脉造影前都进行了颈动脉多普勒超声检查。在合并MAC和CAS的患者中,CAD和多支血管疾病(>或= 2支血管或左主干冠状动脉疾病)的发生率明显高于单独合并CAS的对照组(分别为91%对68%,P = 0.008和76%对44%,P = 0.004)。另一方面,在没有CAS的研究和对照患者中,虽然MAC患者的CAD和多血管疾病的频率更高,但有趣的是,差异无统计学意义(分别为37%对58%和15%对26%,P > 0.05)。逐步多元logistic回归分析显示,CAS (P < 0.001)、MAC (P < 0.01)和高血压(P = 0.054)是CAD存在的独立预测因子。总之,在MAC患者中,CAS的共存比没有MAC的患者更重要,因为它提供了有关潜在CAD发生率和严重程度的有价值的信息。在有MAC但没有CAS的病例中,MAC可能是由动脉粥样硬化以外的因素引起的。
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引用次数: 4
The influence of diabetes mellitus on plaque volume and vessel size in patients undergoing percutaneous coronary intervention. 糖尿病对经皮冠状动脉介入治疗患者斑块体积和血管大小的影响。
Pub Date : 2004-07-01 DOI: 10.1536/jhj.45.573
Shigenori Ito, Takahiko Suzuki, Osamu Katoh, Shinsuke Ojio, Hidetoshi Sato, Mariko Ehara, Tatsuya Ito, Masafumi Myoishi, Yoshiaki Kawase, Ryohei Kurokawa, Yasuyuki Suzuki, Koyo Sato, Junji Toyama, Tatsuya Fukutomi, Makoto Itoh

We evaluated the influence of diabetes on plaque volume and vessel size at a reference segment in diabetic patients undergoing percutaneous coronary intervention using both angiograms and quantitative intravascular ultrasound. A total of 344 patients with 449 de novo coronary lesions including 97 diabetics (133 lesions) who underwent elective percutaneous coronary intervention under intravascular ultrasound guidance were included in this study. Eleven diabetic patients (19 lesions) received insulin and 52 patients (77 lesions) oral hypoglycemic drugs. The other 34 patients (37 lesions) received diet/exercise therapy alone. We measured vessel area (VA) and lumen area (LA) at proximal and distal reference segments by intravascular ultrasound, which were averaged. Plaque area (VA-LA) and % plaque area (100 x plaque area/VA) were subsequently calculated. Although VA was similar between diabetic and non-diabetic patients (13.46 +/- 4.49 mm2 in diabetics versus 14.11 +/- 5.24 mm2 in non-diabetics, P = 0.214), LA was smaller (6.51 +/- 2.63 mm2 versus 7.38 +/- 3.08 mm2, P = 0.004) and % PA was larger (50.4 +/- 11.7 versus 46.5 +/- 11.3, P < 0.001) in diabetic patients, especially the group receiving a hypoglycemic drug or insulin. VA, LA, and % PA were similar between patients with and without insulin treatment. These results potentially might cause undersized device selection without intravascular ultrasound guidance.

我们评估了糖尿病对经皮冠状动脉介入治疗的糖尿病患者斑块体积和血管大小的影响,同时使用血管造影和定量血管内超声。本研究共纳入344例在血管内超声引导下择期经皮冠状动脉介入治疗的449例新发冠状动脉病变患者,其中糖尿病患者97例(133个病变)。11例患者(19个病变)接受胰岛素治疗,52例患者(77个病变)接受口服降糖药治疗。其他34例患者(37个病变)单独接受饮食/运动治疗。我们通过血管内超声测量近端和远端参考节段的血管面积(VA)和管腔面积(LA),取平均值。随后计算斑块面积(VA- la)和斑块面积% (100 x斑块面积/VA)。虽然糖尿病和非糖尿病患者的VA相似(糖尿病患者为13.46 +/- 4.49 mm2,非糖尿病患者为14.11 +/- 5.24 mm2, P = 0.214),但糖尿病患者的LA较小(6.51 +/- 2.63 mm2,非糖尿病患者为7.38 +/- 3.08 mm2, P = 0.004), % PA较大(50.4 +/- 11.7,非糖尿病患者为46.5 +/- 11.3,P < 0.001),特别是接受降糖药物或胰岛素治疗的患者。在接受和未接受胰岛素治疗的患者中,VA、LA和% PA相似。这些结果可能会导致在没有血管内超声引导的情况下选择尺寸过小的设备。
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引用次数: 4
Angiographic restenosis after myocardial bridge stenting. 心肌桥支架置入术后血管造影再狭窄。
Pub Date : 2004-07-01 DOI: 10.1536/jhj.45.581
Hurkan Kursaklioglu, Cem Barcin, Atilla Iyisoy, Sedat Kose, Basri Amasyali, Ersoy Isik

Data on restenosis after stent implantation in myocardial bridges (MB) are very limited. Six-month angiographic results for 12 symptomatic patients who underwent stent implantation for myocardial bridges were compared retrospectively with those of 39 patients who underwent direct stent implantation for de novo atherosclerotic lesions in the left anterior descending artery. Diameter stenosis decreased from 69 +/- 8% to 4 +/- 5% in the MB group and from 79 +/- 8% to 7 +/- 6% in the control group after stent deployment. Systolic narrowing was abolished in all patients with MB. In follow-up, quantitative angiography revealed late loss of 1.8 +/- 1.3 mm in the MB group and 0.9 +/- 0.9 mm in the control group (P = 0.025). The in-stent restenosis rate was also higher in the MB group compared to the control group (67% versus 28%; P = 0.037). Despite favorable immediate results, stent implantation in MBs may not be promising because of the higher in-stent restenosis rate compared to stenting in de novo atherosclerotic lesions.

关于心肌桥支架植入术后再狭窄的数据非常有限。回顾性比较12例有症状的行心肌桥支架植入术患者6个月血管造影结果与39例直接行左前降支新发动脉粥样硬化病变支架植入术患者6个月血管造影结果。支架部署后,MB组直径狭窄从69 +/- 8%下降到4 +/- 5%,对照组从79 +/- 8%下降到7 +/- 6%。所有MB患者的收缩狭窄都消失了。在随访中,定量血管造影显示MB组晚期收缩1.8 +/- 1.3 mm,对照组收缩0.9 +/- 0.9 mm (P = 0.025)。MB组支架内再狭窄率也高于对照组(67% vs 28%;P = 0.037)。尽管有良好的立竿见影的效果,但由于支架内再狭窄率高于新发动脉粥样硬化病变的支架植入,MBs的支架植入可能不太有希望。
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引用次数: 33
Usefulness of a 6 fr right judkins catheter for mechanically extracting a massive intracoronary thrombus from an ectasic right coronary artery: a report on two different cases of thrombectomy. 6倍径右judkins导管在机械提取大面积右冠状动脉内血栓中的作用:两例不同的血栓切除术报告。
Pub Date : 2004-07-01 DOI: 10.1536/jhj.45.673
Satoru Onoda, Makoto Mutoh, Tetsuya Ishikawa, Hiroshi Sakamoto, Junichi Yamaguchi, Hisayuki Okada, Tetsushi Tsurusaki, Takeyuki Kubota, Shinichiro Takizawa, Hidenori Yagi, Chikara Mori, Hidetaka Nagasawa, Takahiro Shibata, Satoru Yoshida, Kamon Imai, Toshinobu Horie, Seibu Mochizuki

In order to bail out the slow-flow phenomenon (slow flow) created by a massive thrombus in an ectasic right coronary artery, a thrombus was mechanically extracted with a 6 Fr right Judkins (JR) catheter, which proved to be more useful than a usual thrombectomy using a Rescue PT system catheter (Rescue). In case 1, the Rescue was used in combination with thrombolysis but failed to alleviate the slow flow that was implicated in a large infarction. On the other hand, in case 2, aggressive thrombectomy with a 6 Fr JR catheter with an 8 Fr Amplatz guiding catheter successfully extracted the massive intracoronary thrombus, restoring good coronary flow. Therefore, mechanical extraction with a 6 Fr JR catheter is safe and useful in cases of massive thrombus when diffuse coronary artery ectasia complicates an acute myocardial infarction. In addition, this method should be applicable to cases of acute coronary syndrome with massive thrombus.

为了消除由扩张的右冠状动脉内大块血栓造成的慢血流现象(慢血流),用6 Fr右Judkins (JR)导管机械取出血栓,事实证明,这比使用Rescue PT系统导管(Rescue)通常的取栓更有用。在病例1中,救援与溶栓联合使用,但未能缓解与大面积梗死有关的血流缓慢。另一方面,病例2采用6 Fr JR导管+ 8 Fr Amplatz导尿管积极取栓,成功取出了大量冠状动脉内血栓,恢复了良好的冠状动脉血流。因此,在弥漫性冠状动脉扩张并发急性心肌梗死时,使用6 Fr JR导管进行机械拔管是安全有效的。此外,该方法应适用于急性冠状动脉综合征合并大块血栓的病例。
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引用次数: 9
A double blind randomized trial to compare the effects of eprosartan and enalapril on blood pressure, platelets, and endothelium function in patients with essential hypertension. 一项比较依普沙坦和依那普利对高血压患者血压、血小板和内皮功能影响的双盲随机试验。
Pub Date : 2004-07-01 DOI: 10.1536/jhj.45.623
Hsin-Bang Leu, Ming-Ji Charng, Philip Yu-An Ding

The renin-angiotensin system is the major contributor to development of hypertension, atherosclerosis, and many other cardiovascular diseases. Angiotensin II, one of the main effectors of this system, contributes to the pathogenesis of hypertension and plays an important role in monocyte, platelet, and endothelium interactions. The effects on platelet and endothelial function, either by angiotensin converting enzyme inhibitors or angiotensin receptor antagonists, are still not well understood. A double-blind, randomized, prospective trial of either enalapril (10-20 mg daily) or eprosartan (400-800 mg daily) over a 10-week period was conducted in 42 patients (27 males, 15 females). Platelet activation was evaluated by measuring platelet factor 4 (PF-4), beta-thromboglobulin (beta-TG), the ratio of platelet factor 4 to beta-thromboglobulin, and endothelial function by measuring total plasma nitrate levels, von Willebrand factor (vWF) levels, and blood flow using venous occlusive plethysmography. After a 10-week treatment with enalapril or eprosartan, the sitting blood pressure in both the enalapril group (from 152.2 +/- 18.7 mmHg to 141.9 +/- 23.5 mmHg, P < 0.05) and eprosartan group (from 151 +/- 10.0 mmHg to 142.3 +/- 12.9 mmHg, P < 0.05) was significantly reduced. Significant diastolic blood pressure (DPB) reduction (from 94 +/- 8.7 to 84.5 +/- 9.6 mmHg, P < 0.05) and a greater DBP reduction response were found in the eprosartan group (63% in eprosartan versus 25% in enalapril). Additionally, dose-dependent reductions in the indices of platelet activation and endothelial dysfunction were observed in patients administered high dose treatments of eprosartan and enalapril, and the beneficial effects of these agents were not correlated with the reduction of blood pressure using both agents. Eprosartan is effective and well-tolerated in the treatment of mid-to-moderate hypertension, and the DBP response reduction to eprosartin was better than that to enalapril. A high dose of either eprosartan or enalapril significantly decreased the indices of platelet activation and endothelial dysfunction in hypertensive patients. The benefits of both agents cannot be explained solely by their antihypertensive effects and possibly may be mediated through their unique effect on angiotensin blockade.

肾素-血管紧张素系统是高血压、动脉粥样硬化和许多其他心血管疾病发展的主要因素。血管紧张素II是该系统的主要效应物之一,参与高血压的发病机制,并在单核细胞、血小板和内皮细胞的相互作用中发挥重要作用。血管紧张素转换酶抑制剂或血管紧张素受体拮抗剂对血小板和内皮功能的影响尚不清楚。在一项为期10周的双盲、随机、前瞻性试验中,42名患者(27名男性,15名女性)服用依那普利(10- 20mg /天)或依普罗沙坦(400- 800mg /天)。通过测量血小板因子4 (PF-4)、β -血小板球蛋白(β - tg)、血小板因子4与β -血小板球蛋白的比值来评估血小板活化,通过测量血浆总硝酸盐水平、血管性血友病因子(vWF)水平来评估内皮功能,并通过静脉闭塞性体积描记仪来评估血流。用依那普利或依泊沙坦治疗10周后,依那普利组(从152.2 +/- 18.7 mmHg降至141.9 +/- 23.5 mmHg, P < 0.05)和依泊沙坦组(从151 +/- 10.0 mmHg降至142.3 +/- 12.9 mmHg, P < 0.05)的坐位血压均显著降低。依泊沙坦组舒张压(DPB)显著降低(从94 +/- 8.7降至84.5 +/- 9.6 mmHg, P < 0.05),舒张压降低效果更明显(依泊沙坦组为63%,依那普利组为25%)。此外,在接受大剂量依普沙坦和依那普利治疗的患者中,血小板活化和内皮功能障碍指数呈剂量依赖性降低,这些药物的有益效果与使用这两种药物的血压降低无关。依普沙坦治疗中中度高血压有效且耐受性良好,且依普沙坦对舒张反应的降低效果优于依那普利。大剂量依泊沙坦或依那普利均可显著降低高血压患者血小板活化和内皮功能障碍指标。这两种药物的益处不能仅仅通过它们的降压作用来解释,可能是通过它们对血管紧张素阻断的独特作用来介导的。
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引用次数: 29
Stenting the undeployed stent. 植入未展开的支架。
Pub Date : 2004-07-01 DOI: 10.1536/jhj.45.667
Cemal Sag, Mustafa Ozkan, Mehmet Uzun, Oben Baysan

Undeployment of a stent which poses a potential risk for future events may become a serious problem in the catheter laboratory. Herewith, we present a case in which we successfully stented an undeployed stent in the distal right coronary artery.

在导管实验室中,支架的解除会对未来的事件造成潜在的风险,这可能成为一个严重的问题。在此,我们提出的情况下,我们成功地在远端右冠状动脉支架未部署。
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引用次数: 0
The case of a cyst hydatid localized within the interatrial septum. 房间隔内包虫病的病例分析。
Pub Date : 2004-07-01 DOI: 10.1536/jhj.45.703
Ozalp Karabay, Ahmet Onen, Fidan Yildiz, Erkan Yilmaz, Cenk A Erdal, Aydin Sanli, Göksel Kilci, Ibrahim Algin, Oya Itil, Unal Açikel

The ratio of cardiac involvement of Echinoccocus granulosus is 0.02-2% and although seen rarely, involvement of the interatrial septum has also been reported in the published literature. The present case was a 19-year-old male university student admitted to hospital with complaints of headache and dizziness. Computerized tomography of the cranium revealed a cystic mass located at the frontal region and enucleation of the cyst was performed during surgery. A cystic lesion 5 x 4 cm in size was detected within the interatrial septum on two-dimensional transthoracic echocardiography during the postoperative period and the patient was referred to our clinic. Open heart surgery was performed and a hydatid cyst that involved the interatrial septum was enucleated. The cyst wall was sutured to the interatrial septum. No complications developed during the postoperative period. The patient was discharged on the fifth day of hospitalization and medical therapy was started with albendazole.

细粒棘球蚴累及心脏的比例为0.02-2%,虽然少见,但在已发表的文献中也有累及房间隔的报道。该宗个案为一名19岁男大学生,因头痛及头晕而入院。颅脑电脑断层显示位于额部的囊性肿块,手术中进行了囊肿去核。术后经胸二维超声心动图在房间隔内发现一个5 × 4 cm大小的囊性病变,患者被转介到我们的诊所。我们进行了心内直视手术,并切除了累及房间隔的包虫囊肿。将囊肿壁与房间隔缝合。术后无并发症发生。患者住院第5天出院,开始阿苯达唑药物治疗。
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引用次数: 10
The effects of octreotide in dilated cardiomyopathy: an open-label trial in 12 patients. 奥曲肽对扩张型心肌病的影响:12例患者的开放标签试验。
Pub Date : 2004-07-01 DOI: 10.1536/jhj.45.613
Namlk Kemal Eryol, Muhammed Güven, Ramazan Topsakal, Murat Sungur, Ibrahim Ozdogru, Tugrul Inanç, Abdurrahman Oguzhan

Octreotide, a somatostatin analogue, has been found effective in the treatment of acromegalic cardiomyopathy. We investigated whether intermittent octreotide therapy had beneficial effects in patients with ischemic or idiopathic dilated cardiomyopathy, which are refractory to conventional therapy. Twelve patients with ischemic or idiopathic dilated cardiomyopathy were enrolled in the study. In addition to conventional treatment, octreotide (first 50 microg and then 25 microg three times per day for 4 days) was administered and repeated after 1, 2, and 3 months. The patients were evaluated 3 times, before and immediately after the first treatment and after 3 months of treatment, using echocardiography, exercise stress testing, ambulatory ECG, right ventricular catheterization, cardiac enzymes, and the Minnesota living with heart failure questionnaire for quality of life. There were no significant changes in parameters after the first treatment. However, after 3 months of treatment, there were significant improvements in the left ventricular ejection fraction, left ventricular posterior wall thickness, hemodynamics, exercise capacity, and quality of life. Additionally, ischemic burden and the number of ventricular premature beats also decreased slightly. Intermittent octreotide therapy led to significant improvements in patients with ischemic and idiopathic dilated cardiomyopathy refractory to conventional treatment. We believe that this therapy should be attempted as an adjunctive therapy in these patients, and that in this respect, randomized, double-blind, clinical, and large-scale studies are required before regular usage is undertaken.

奥曲肽,一种生长抑素类似物,已被发现有效治疗肢端肥大性心肌病。我们研究了间歇性奥曲肽治疗对缺血性或特发性扩张型心肌病患者是否有有益的效果,这些患者对常规治疗是难治性的。12例缺血性或特发性扩张型心肌病患者参加了这项研究。在常规治疗的基础上,给予奥曲肽(先50 μ g,后25 μ g,每天3次,连用4天),并在1、2和3个月后重复。采用超声心动图、运动负荷试验、动态心电图、右室导尿、心酶和明尼苏达心力衰竭患者生活质量问卷对患者进行首次治疗前后和治疗3个月后的3次评估。第一次治疗后各项参数无明显变化。然而,治疗3个月后,左心室射血分数、左心室后壁厚度、血流动力学、运动能力和生活质量均有显著改善。此外,缺血性负荷和室性早搏次数也略有下降。间歇性奥曲肽治疗对缺血性和特发性扩张型心肌病难以常规治疗的患者有显著改善。我们认为这种疗法应该作为这些患者的辅助疗法进行尝试,在进行常规使用之前,需要进行随机、双盲、临床和大规模的研究。
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引用次数: 6
Fabry disease female proband with clinical manifestations similar to hypertrophic cardiomyopathy. 法布里病女性先证者,临床表现与肥厚性心肌病相似。
Pub Date : 2004-07-01 DOI: 10.1536/jhj.45.685
Masakazu Teragaki, Akemi Tanaka, Kaname Akioka, Hoang Thi Ngkoc Lan, Yasuaki Nishi, Tsunekazu Yamano, Junichi Yoshikawa

Fabry's disease is an X-linked inborn error of glycosphingolipid catabolism, resulting from a deficiency in alpha-galactosidase A (alpha-Gal A). A 56-year-old Japanese woman was at first suspected of having hypertrophic cardiomyopathy. The patient and her son had alpha-Gal A activity in leukocytes that was remarkably below the limit of controls. DNA analysis of the alpha-Gal A gene revealed a novel missense mutation at codon 19 in exon 1, resulting in leucine-to-proline substitution. As a result she was confirmed as a classic Fabry heterozygote. Recent advances in enzyme replacement therapy can reverse the storage of glycosphingolipids in Fabry's disease. Thus, in patients with cardiac hypertrophy, it is important to differentiate Fabry's disease from other causes of hypertrophy. Therefore, it is necessary to measure alpha-Gal A activity in all suspected cases and to analyze genetic abnormalities in heterozygotes.

法布里氏病是由α -半乳糖苷酶a (α -gala)缺乏引起的先天性糖鞘脂分解代谢x连锁错误。一名56岁的日本妇女最初被怀疑患有肥厚性心肌病。患者及其儿子的白细胞α -半乳糖A活性明显低于对照组。对α - gal A基因的DNA分析显示,在1号外显子密码子19处有一个新的错义突变,导致亮氨酸到脯氨酸的替代。结果,她被证实是一个典型的法布里杂合子。酶替代疗法的最新进展可以逆转法布里病中鞘糖脂的储存。因此,在心肌肥厚的患者中,区分法布里病与其他原因的肥厚是很重要的。因此,有必要测量所有疑似病例的α - gal A活性,并分析杂合子的遗传异常。
{"title":"Fabry disease female proband with clinical manifestations similar to hypertrophic cardiomyopathy.","authors":"Masakazu Teragaki,&nbsp;Akemi Tanaka,&nbsp;Kaname Akioka,&nbsp;Hoang Thi Ngkoc Lan,&nbsp;Yasuaki Nishi,&nbsp;Tsunekazu Yamano,&nbsp;Junichi Yoshikawa","doi":"10.1536/jhj.45.685","DOIUrl":"https://doi.org/10.1536/jhj.45.685","url":null,"abstract":"<p><p>Fabry's disease is an X-linked inborn error of glycosphingolipid catabolism, resulting from a deficiency in alpha-galactosidase A (alpha-Gal A). A 56-year-old Japanese woman was at first suspected of having hypertrophic cardiomyopathy. The patient and her son had alpha-Gal A activity in leukocytes that was remarkably below the limit of controls. DNA analysis of the alpha-Gal A gene revealed a novel missense mutation at codon 19 in exon 1, resulting in leucine-to-proline substitution. As a result she was confirmed as a classic Fabry heterozygote. Recent advances in enzyme replacement therapy can reverse the storage of glycosphingolipids in Fabry's disease. Thus, in patients with cardiac hypertrophy, it is important to differentiate Fabry's disease from other causes of hypertrophy. Therefore, it is necessary to measure alpha-Gal A activity in all suspected cases and to analyze genetic abnormalities in heterozygotes.</p>","PeriodicalId":14717,"journal":{"name":"Japanese heart journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2004-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1536/jhj.45.685","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24670246","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 7
期刊
Japanese heart journal
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