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家族性扩张型心肌病的临床特点和家谱分析 总被引:1,自引:1,他引:0
目的:探讨家族性扩张型心肌病(DCM)的临床特点和遗传特征。方法:对4家系的患者和家族成员的病史、体征、心电图、心脏X线片、彩色多普勒超声心动图等进行调查分析。结果:4家系4代共84例中有12例符合家族性DCM的诊断,其中男8例,女4例;均表现为心力衰竭。家谱分析显示,4家系的遗传方式符合常染色体显性遗传。结论:家族性DCM发病具有连续传代的特点及不同的外显率,受性别的影响;常有心力衰竭症状。 相似文献
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家族性房间隔缺损调查及遗传特点分析 总被引:1,自引:0,他引:1
房间隔缺损 (ASD)为最常见的先天性心脏病之一 ,家族中连续数代均患ASD的现象罕见。国内未见多个家系系统调查 ,本研究目的旨在了解家族性ASD的临床特点及遗传方式。1 对象与方法1 .1 对象4个ASD先证者分别为江苏省境内 2个、浙江省境内 1个及宁夏回族自治区银川市 1个。家族性单纯ASD家系中的 2代或 3代内直系血亲共 32例。ASD先证者家庭成员中有 2个或以上同样患者以ASD家系论。1 .2 方法逐一详细询问病史 ,如有无头晕、黑 、活动后呼吸困难等症状 ,是否患心脏病等。体格检查 :包括有无紫绀及心脏杂音等。心… 相似文献
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甲亢是一种与遗传有关的自身免疫性疾病。本文对家族性甲亢和非家族性甲亢的各30例患者,进行临床资料与家系调查的对比,并对家族性甲亢的成员中随机抽样52人(甲亢患者20人,家属成员32人)作了HLA分型检查,以探索甲亢发病与遗传因素、环境因素之间的关系。结果如后:(1)对家族性甲亢患者的家系成员进行HLA分型检查,发现HLA-B60阳性 相似文献
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《中国医学文摘:内科学》1986,(8)
782768 有关家族性甲状腺机能亢进症发病的几个因素—附30例家系调查赵秀梅等中华内分泌代谢杂志2(2):85~88,1986 为探讨遗传因素、环境因素与甲亢病之间的关系,对家族性及及家族性甲亢患者各30例,包括其家属共317人,进行了临床检查与家系调查。结果:27.3%的甲亢患者与遗传有关,计母女同患者13例,父女同患者3例,父子同患者1例,兄弟姐妹同患者8例;83.3%甲亢患者的发病与精神创伤及 相似文献
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目的:调查一家族的III度房室传导阻滞及其可能的致病基因。方法:对一家族性房室传导阻滞患者家族的所有成员进行病史采集、体格检查、心电图及超声心动图等检查,分析其临床特点,制作家系图谱,采用外显子组测序及突变分析寻找可能的致病基因。结果:此家系含有22名成员,其中有6例(27.3%)发病,均表现为40岁左右开始出现心动过缓,逐渐演变为II度房室传导阻滞、最终发展成为III度房室传导阻滞,这6例患者均已行永久性起搏器植入术,根据遗传家系图谱提示此家族患者可能为常染色体不完全显性遗传。与亚洲健康人群进行基因比对发现,此家族性房室传导阻滞患者中有24个差异基因。结论:该家族性房室传导阻滞系常染色体不完全显性遗传,可能由一个或多个基因突变引起。 相似文献
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目的探讨预激综合征合并阵发性室上性心动过速(PSVT)的家族性及临床特点。方法对一个预激综合征合并PSVT的家系进行调查,并对其中3例患者进行心内电生理检查和射频消融术,同时观察其临床特点。结果该家系4代30例家系成员中有2代成员4人患病,均为女性,3例为左侧旁道,临床特点及射频消融治疗效果与散发性一致。结论家族性预激综合征合并PSVT为常染色体显性遗传性疾病,可外显不全或延迟外显。临床及心电图表现和治疗效果与散发性相同。 相似文献
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家族性心脏传导阻滞是~种较少见的遗传性心血管疾病,现将我们遇到的一家三代20人中6例报告如下。1临床资料6例临床资料见附表。例1心电图见图1,家系图谱见图2。2讨论家族性心脏传导阻滞临床分两型,先天起病型和成人起病型,后者已被确定属常染色体显性遗传。我们所调查的系谱具有以下特点:患者双亲中有一人患病,患者同胞或子女有发病,疾病在一家几代中连续传递,符合常染色体显性遗传。该家族目前已有6例。均是在40岁以后发病,所描记到的ECG有房速伴Ⅲ度AVB、房颤伴Ⅲ度AVB及Ⅲ度AVB。第4代子女中年龄均未达40岁(最大34岁),… 相似文献
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《中华骨质疏松和骨矿盐疾病杂志》2017,(5)
目的研究1个中国家系中2例胱氨酸病患儿的临床表现和致病基因CTNS遗传突变。方法通过家系调查、病史采集和生化指标测定,分析胱氨酸病的遗传特点和临床表型。进行PCR扩增基因组DNA,直接测序分析2例患儿的CTNS基因的突变位点。结果该家系中2例患儿均确诊为胱氨酸病,临床表现为典型的肾小管功能障碍,包括糖尿、蛋白尿、氨基酸尿、酸中毒以及高磷酸盐尿导致低磷性佝偻病;病例1同时存在甲状腺功能减退症。该家系符合常染色体隐性遗传特点,CTNS基因检测证实2例患儿均存在致病性错义突变(c.969CG),父母均携带该位点杂合突变。结论本研究分析2例遗传性胱氨酸病患儿临床特点和基因突变。基因检测有助于遗传性范可尼综合征患者明确病因,以提高对该病的认识和诊治。 相似文献
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目的总结老年人房间隔缺损的手术及术后处理方法。方法对31例60~66岁继发孔型房间隔缺损患者进行手术治疗,19例同期处理三尖瓣病变,8例同期行射频消融治疗心房颤动(房颤),并与59例45~59岁的非老年患者比较,观察手术疗效。结果两组患者手术后全部存活,老年组8例行射频消融术,有效率87.5%,右心功能不全8例,治疗后好转;非老年组8例行射频消融术,有效率100.0%,右心功能不全2例,治疗后好转。结论年龄不是房间隔缺损手术的禁忌证,正确的术后处理、并存症的治疗和房颤治疗对预后有重要影响。 相似文献
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Transesophageal echocardiography is superior to transthoracic echocardiography in the diagnosis of sinus venosus atrial septal defect 总被引:1,自引:0,他引:1
I Kronzon P A Tunick R S Freedberg N Trehan B P Rosenzweig M E Schwinger 《Journal of the American College of Cardiology》1991,17(2):537-542
The purpose of this study was to compare transthoracic and transesophageal echocardiography in the diagnosis of various types of atrial septal defects. Forty-one adult patients with the clinical diagnosis of atrial septal defect were studied by transthoracic and transesophageal echocardiography (30 women, 11 men; 18 to 81 years of age). Transthoracic echocardiography demonstrated the atrial septal defect in 33 patients (secundum type in 28, primum type in 3 and sinus venosus type in 2). Transesophageal echocardiography demonstrated the defect in all 41 patients. Thus, in 8 (20%) of 41 patients the atrial septal defect was demonstrated by transesophageal and not by transthoracic echocardiography. Six of the eight had a sinus venosus type atrial septal defect; the other two patients had a secundum atrial septal defect (one of these two had a technically poor transthoracic echocardiogram and the other had a small atrial septal defect). Transthoracic echocardiography, therefore, failed to demonstrate the sinus venosus defect in six (75%) of eight patients. An anomalous venous connection associated with the sinus venosus defect was visualized by transesophageal echocardiography in seven of the eight patients but was not seen on transthoracic echocardiography in any patient. Sinus venosus type atrial septal defects are frequently not visualized in adults by conventional transthoracic echocardiography. Transesophageal echocardiography is recommended when an atrial septal defect is clinically suspected but cannot be visualized by transthoracic echocardiography. 相似文献
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Two patients are described who presented with congestive heart failure and were found to have an atrial septal defect with a pulmonary blood flow approximately twice the systemic blood flow. Most of the usual clinical signs of atrial septal defect were absent, and the diagnosis was established by right heart catheterization and radioisotopic angiography. Both patients had hypertension and coronary artery disease. Atrial septal defect in the adult patient may not be recognized because of associated cardiac disease, including coronary artery disease and hypertension, or pulmonary disease which may obscure the usual clinical signs of a septal defect. Radioisotopic angiography and right heart catheterization should be considered in any patients with heart disease or congestive failure of obscure cause even if the usual diagnostic signs of atrial septal defect are absent. 相似文献
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Secundum type atrial septal defects were closed in 32 adults aged 30 to 57 years, with the use of cardiopulmonary bypass. Before operation, 12 had functional class II disease and 11 class III disease (New York Heart Association classification). Eight had a history of congestive cardiac failure, and 6 had atrial fibrillation. Cardiothoracic ratio ranged between 50 and 76 percent. Sixteen patients had moderate to severe pulmonary hypertension, but none had reversed shunt.There was 1 operative and 1 late death. Neither death was related to the complications usually associated with atrial septal defect in this age group. The remaining patients were followed up for 6 months to 12 years. All but 2 had functional class I disease after operation. Postoperatively a statistically significant reduction was noted in cardiothoracic ratio and pulmonary arterial pressures, and there was consistent rise in calculated pulmonary to systemic resistance ratio. A small residual shunt of 1.6:1 was present in 2 patients. It is concluded that irrespective of preoperative complications (pulmonary hypertension, atrial fibrillation and congestive heart failure), repair of atrial septal defect with left to right shunt in adults produces considerable clinical and hemodynamic improvement, and has low mortality and morbidity rates. 相似文献
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Twenty-three consecutive patients with clinical (auscultatory and electrocardiographic) signs of uncomplicated atrial septal defect of secundum or sinus venosus type were examined by chest x-ray, phonocardiography, and echocardiography, before right heart catheterisation. Seventeen (74%) had atrial septal defect, two patients (9%) had insignificant pulmonary stenosis, and four subjects (17%) were normal. No false positive diagnosis of atrial septal defect was made by chest x-ray examination, whereas increased vascular markings were incorrectly interpreted as pulmonary congestion in one case. Four patients had x-ray films showing questionable signs of left-to-right shunt. Six of 15 patients with a large left-to-right shunt were correctly selected for surgery based on radiological findings. One false negative but no false positive diagnosis of atrial septal defect was made by phonocardiography. Four cases with and four cases without atrial septal defect were classified as having questionable phonocardiographic signs of atrial septal defect. Echocardiographic distinction between those with atrial septal defect and those without atrial septal defect was correct in all cases; quantitative measurement of left-to-right shunt, however, was unsatisfactory. Combined normal findings by x-ray film and echocardiography appeared adequate in all cases for the exclusion of atrial septal defect (six patients). When the six patients who were correctly identified for surgery from the radiological findings are included, there was a total of 12 patients out of 23 (52%:95% confidence limits 31 to 73%) who were evaluated definitively by the non-invasive tests. 相似文献
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It has been suggested that the maximal amplitude of the pulmonary valve motion following atrial contraction (Amax) may be useful in the clinical evaluation of patients with valvular pulmonary stenosis. To evaluate the specificity and sensitivity of this measurement in children, we reviewed the echocardiograms of the pulmonary valve of 120 subjects: 57 normal individuals, 25 patients with secundum atrial septal defect and without pulmonary hypertension, and 32 patients with pulmonary stenosis proven at catheterisation (mild in 16 patients, moderate in nine, and severe in seven). Amax ranged from 0 to 12 mm in the normal subjects, and from 2 to 16 mm in those with atrial septal defect. In mild pulmonary stenosis, Amax ranged from 2 to 12 mm, in moderate pulmonary stenosis from 2 to 14 mm, and in severe pulmonary stenosis, from 3 to 12 mm. Though mean Amax was significantly larger in patients with moderate and severe pulmonary stenosis compared with normal subjects, there was much overlap between the two groups so that individual cases could not be identified correctly from this measurement. No significant difference was observed when comparing Amax values of patients with atrial septal defect and those of patients with pulmonary stenosis of various severity, nor were any observed between the pulmonary stenosis groups. These findings indicate that Amax is neither specific nor sensitive for the presence or severity of valvular pulmonary stenosis in children, and that it cannot be used to evaluate non-invasively the results of pulmonary valvotomy. 相似文献
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Transoesophageal echocardiographic assessment of primum, secundum and sinus venosus atrial septal defects 总被引:2,自引:0,他引:2
J P Gnanapragasam A B Houston D B Northridge M P Jamieson J C Pollock 《International journal of cardiology》1991,31(2):167-174
We compared the ability of transthoracic and transoesophageal echocardiography to determine the presence and site of an atrial septal defect and associated anomalous pulmonary venous connexions in 13 school age children (aged 5 to 15 years) and 12 adults (aged 25 to 68 years). Transthoracic echocardiography detected atrial septal defects in 12 children and 6 adults. Transoesophageal echocardiography confirmed the position of 16 (13 secundum, 3 primum) of these 18 defects but altered the diagnosis from a secundum defect to a sinus venosus defect in one and from a sinus venosus defect to a high secundum defect in another. In addition to these 18, transoesophageal echocardiography diagnosed a defect in 5 adults (3 secundum and 2 sinus venosus defects) and 1 child (secundum defect). In an adult with inconclusive transthoracic findings, transoesophageal echocardiography enabled clear visualisation of the atrial septum and excluded an atrial septal defect. Transoesophageal echocardiography showed anomalous attachment of a pulmonary vein into the region of a sinus venosus defect (n = 3) but did not show anomalous connexions to the superior caval vein (n = 3) or the inferior caval vein (n = 1). Transoesophageal echocardiography provides a reliable method of diagnosing or excluding an atrial septal defect in patients with inconclusive transthoracic findings and is of particular diagnostic value in sinus venosus defects. 相似文献
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M Sakakibara S Kobayashi H Imai S Watanabe Y Masuda Y Inagaki 《Journal of cardiology》1987,17(4):817-829
We studied the morphological features of defects of the interatrial septum using magnetic resonance imaging (MRI) to determine the sizes of defects and other abnormalities. MR images were obtained in 28 patients with atrial septal defect, including five cases with complicated anomalies (two with Ebstein's anomaly, one pentalogy of Fallot, and one anomalous pulmonary vein connection and azygos continuation). Images were also obtained in the control subjects including seven normal volunteers and 142 patients with various acquired heart diseases. The diagnosis of atrial septal defect was established by cardiac catheterization, angiography and two-dimensional echocardiography prior to the MRI studies, and in 14 patients, the diagnosis was confirmed by surgery. The MRI unit had a superconducting magnet and operated at 0.25 or 0.50 Tesla. A spin echo pulse sequence was used with an echo time of 40 or 60 msec. At the beginning of this study, non-gated MRI images were obtained in the 28 controls and in three patients with atrial septal defect. Nongated MRI could not image the anatomical structure of the interatrial septa of 12 of the 28 controls, or any of the three patients with atrial septal defect. Nongated MRI was, therefore, inadequate for visualizing cardiac anatomy. Gated MRI images were obtained in 141 controls and in 25 patients with atrial septal defect. Gated MRI revealed the interatrial septum, interventricular septum, atrioventricular septum, mitral valve, tricuspid valve and other intracardiac structures in most subjects. In 17 control subjects (12%), however, there was a very faint signal from the central portion of the interatrial septum. In these instances, there was a gradual fading of the signal of the interatrial septum, so that they could be distinguished from the atrial septal defect. The sudden disappearance of the signal from the interatrial septum was observed by gated MRI in all 25 patients with atrial septal defect. The sizes of the defects by MRI coincided with the findings at surgery in all 14 patients. MRI showed right atrial dilatation, right ventricular hypertrophy and dilatation, and pulmonary artery dilatation in most of the patients having atrial septal defect. Complex anomalies associated with atrial septal defect were also clearly shown by MRI, such as displacement of the tricuspid leaflets in two patients with Ebstein's anomaly, and anomalous pulmonary venous connection and persistent left superior vena cava in one patient. These results indicated that gated MRI is a valuable noninvasive method of diagnosing atrial septal defect and complicating anomalies. 相似文献
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G Hausdorf M Schneider J Hebe G Morf V Alexi F Berdjis Y G Weng R Hetzer P E Lange 《Zeitschrift für Kardiologie》1992,81(5):276-282
Creation of a communication between the left and right atrium to decompress the left ventricle can be life-saving after corrective surgery in some patients with congenital heart disease and small left ventricle. After adaptation of the left ventricle, surgical closure of this anastomosis becomes mandatory. We report four patients (2.9 to 8.2 kg) where non-surgical, transcatheter-closure was performed in the first year of life using the Rashkind-PDA-Occluder System (USCI). In a newborn with d-transposition of the great arteries (2.9 kg), in a patient with atrial septal defect (5.1 kg), and in a patient with tetralogy of Fallot with atrial septal defect (4.9 kg) atrial septal defects were not completely closed during correction because of left-ventricular dysfunction. Five to 12 days postoperatively transcatheter closure was performed utilizing the 8F-Rashkind-PDA-Occluder System in the first two patients (2.9 kg and 4.9 kg) and by use of the 11F-Rashkind-PDA-Occluder System in the third patient (4.9 kg). In the patient with supracardiac total anomalous pulmonary venous drainage via a vertical vein, the vertical vein was not closed during surgical correction at the age of 2 months. Transcatheter closure was performed 6 months later using the 11F-Rashkind-PDA-Occluder-System. It is concluded that small, defined atrial septal defects can be closed, even in newborns, using the Rashkind-PDA-Occluder System (USCI) and, furthermore, that large vessels, even without luminal narrowing can be occluded completely. Thus, this combined "surgical-interventional approach" is not limited by age and could reduce the risk of surgical correction in patients with congenital heart disease and small left ventricle. 相似文献
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单纯性先天性心脏病NFATC1基因突变筛查 总被引:2,自引:0,他引:2
目的 探讨激活T细胞核因子1(NFATC1)基因在人类单纯性先天性心脏病患者中的突变情况.方法 应用聚合酶链反应(PCR)结合DNA测序技术,在56个单纯性先天性心脏病核心家系126例成员以及33例非先天性心脏病对照者中检测NFATC1基因IPT-NFAT区域的突变情况.结果 PCR扩增发现有58%(37/64)的患者以及74%(46/62)的患者一级亲属出现了2条电泳带,经测序证实2条带均为外显子7的扩增产物,分子量偏大的条带较正常的内含子区域的二倍重复序列(2×44 bp,4个单核苷酸多态性)多一个重复序列,成为三倍体(3×44 bp,6个单核苷酸多态性)重复序列.室间隔缺损、房间隔缺损以及主动脉瓣二叶畸形3类患者三倍体纯合子基因型频率为13.04%,而非先天性心脏病对照者及其他类型的先天性心脏病患者无三倍体纯合子基因型.并且主动脉瓣二叶畸形的患者其内含子的第3组重复序列的第17位碱基发现点突变(G→A).结论 NFATC1基因与人类的心内膜垫、膜隔和动脉瓣的发育有关,可能是一种潜在的导致室间隔缺损、房间隔缺损、主动脉瓣二叶畸形的易感基因. 相似文献