Possible new autosomal recessive syndrome of lymphedema,hydroceles, atrial septal defect,and characteristic facial changes

We describe two brothers with congenital lymphedema of lower limbs, atrial septal defect (ASD), and similar facial appearance. A sister had severe hydrops fetalis, ASD, omphalocele, and other anomalies. This combination of congenital lymphedema and ASD differs from other reported cases of congenital lymphedema and most likely constitutes a previously unrecognized autosomal recessive syndrome. © 1996 Wiley-Liss, Inc.     

Perthes disease: A new finding in Floating‐Harbor syndrome

Floating‐Harbor Syndrome (FHS; OMIM #136140) is an ultra‐rare autosomal dominant genetic condition characterized by expressive language delay, short stature with delayed bone mineralization, a triangular face with a prominent nose, and deep‐set eyes, and hand anomalies. First reported in 1973, FHS is associated with mutations in the SRCAP gene, which encodes SNF2‐related CREBBP activator protein. Mutations in the CREBBP gene cause Rubinstein‐Taybi Syndrome (RSTS; OMIM #180849, #613684), another rare disease characterized by broad thumbs and halluces, facial dysmorphisms, short stature, and intellectual disability, which has a phenotypic overlap with FHS. We describe a case of FHS associated with a novel SRCAP mutation and characterized by Perthes disease, a skeletal anomaly described in approximately 3% of patients with RSTS. Thus Perthes disease can be added to the list of clinical features that overlap between FHS and RSTS.

     

经食管超声评价微创外科房间隔缺损封堵术中患者心功能及血流动力学

目的运用经食管超声对微创外科房间隔缺损封堵术中患者心功能及血流动力学的变化进行评价,探讨超声在微创外科房间隔缺损封堵术中的应用价值。方法门诊筛查选择适合经微创外科封堵术治疗的房间隔缺损患者50例,于术中及手术前后对患者进行经食管超声和经胸超声心动图检查,分别测量左、右室心功能及血流动力学指标,并对手术前后结果进行对照比较。结果术后左、右房室腔的径线与术前比较明显减小（P〈0．05）,右心室舒张末期容积（RVEDV）、右心室每搏输出量（RVSV）、右心排血量（CO）均较封堵前明显减小,左心室舒张末期容积（LVEDV）、每搏输出量（LVSV）及排血量（CO）均较封堵前增加,两者具有显著差异（P〈0．05）。而左心室收缩末期容积（LVESV）和右心室收缩末期容积（RVESV）以及左室和右室射血分数无显著变化。术后肺动脉瓣上最大血流速度、三尖瓣口E峰流速、三尖瓣反流最大流速及肺动脉收缩压与术前比较均显著减小（P〈0．05）,二尖瓣口E峰流速显著增大（P〈0．05）。结论经食管超声可及时反映微创外科房间隔缺损封堵术前后患者心功能及血流动力学变化,为临床评价手术效果提供参考。     

The carotid bodies in a case of ventricular septal defect

A woman of 62 years with Turner's syndrome died in congestive cardiac failure secondary to a large ventricular septal defect with biventricular hypertrophy. During her last few months the lifelong left-to-right shunt underwent reversal exposing her carotid bodies to hypoxaemia. The carotid bodies were not enlarged, thus demonstrating that hyperplasia of glomic tissue is not brought about by increased myocardial mass per se. They were, however, abnormally cellular with more dark cells ( a variant of chief cells), many of which were abnormally large and showed ultrastructural features of metabolic activity. These changes may represent the earliest histological response of the carotid body to hypoxaemia and later, the dark cells may mature into the more familiar and common light variant. It seems likely that this dark cell activity precedes, probably by a long period, the sustentacular cell hyperplasia and proliferation of nerve axons which we have reported elsewhere as the chronic reaction of the carotid bodies to hypoxaemia.     

Changing phenotype in Floating-Harbor syndrome

We report on a girl with Floating-Harbor syndrome, trigonocephaly due to metopic suture synostosis, preauricular pit, hypoplastic thumb, subluxated radial head, and Sprengel deformity. A review suggests that trigonocephaly may be an important craniofacial manifestation in this syndrome that is recognizable in infancy. With time, this finding appears to become less noticeable, and the face develops a triangular shape, accentuated by a broad and bulbous nose. Am. J. Med. Genet. 76:58–61, 1998. © 1998 Wiley-Liss, Inc.     

室缺并重度肺高压的围手术期处理

目的 探讨室缺合并重度肺动脉高压的围手术期处理方法。方法 手术前静脉应用前列腺素E1一周；术中应用顺单向活瓣补片修补室缺；术后再静脉应用前列腺素E1两周。结果 符合诊断的病人21例，围术期死亡2例，19例安全渡过围手术期出院。结论 术前静脉应用前列腺素E1,术后应用前列腺素E1等药物和呼吸机治疗是该类病人顺利恢复的重要因素.     

Floating‐Harbor syndrome in two unrelated girls: Mild short stature in one patient and effective growth hormone therapy in the other

We report two female patients, 11 and eight years old, with clinical findings consistent with the Floating‐Harbor syndrome (FHS). The first patient presented with characteristic facial features, brachydactyly, broad thumbs, and delay of speech development, but less pronounced short stature (?2 standard deviation (SD) below mean) than previously reported. The second patient presented with short stature, characteristic facial features, brachydactyly, and delay of speech as well as mental development; she was successfully treated with growth hormone. Metacarpophalangeal pattern profiles (MCPP) were performed in both patients and compared to those of previously published patients. © 2001 Wiley‐Liss, Inc.     

A case with dextrocardia, ventricular septal defect, persistent left superior vena cava and drainage of the great cardiac vein into the left internal thoracic vein

A 17-month-old female patient was operated on for ventricular septal defect and pulmonary stenosis. During the operation several cardiac anomalies were observed these were dextrocardia, ventricular septal defect, persistent left superior vena cava, drainage of the great cardiac vein into the left internal thoracic vein and a pericardial pouch. These anomalies have not previously been reported together.     

Assessment of right atrial and right ventricular size in children after percutaneous closure of secundum atrial septal defect with Amplatzer septal occluder

Introduction

The aim of this study was to evaluate the right atrial (RA) and right ventricular (RV) size, and the speed of their normalization, in children after percutaneous closure of secundum atrial septal defect with the Amplatzer septal occluder.

Material and methods

The study group consisted of 42 children, aged 4.5 to 18.5 years. The following measurements (indexed to body surface area) were performed using 2D echocardiography: longitudinal, transverse axis and area of RA, RV inflow dimensions at one-third, and halfway between the tricuspid annulus and the apex (in the apical 4-chamber view), short axis and M-mode RV diastolic dimensions. All measurements were obtained 24 h and 1, 3 and 12 months after the procedure, then annually over 4 years of follow-up, and compared with the values obtained from the control groups.

Results

A significant decrease in all RA and RV values was observed after 24 h. Right ventricular transverse dimension normalized after 1 month, the RA longitudinal axis and area and the RV inflow dimensions after 3 months, and the RA transverse axis and M-mode RV diastolic dimension after 2 years, but the ratio of transverse to longitudinal RA axis remained significantly higher.

Conclusions

Right atrial and right ventricular measurements decrease rapidly during the first 24 h, and most of them normalize within a 3-month period. M-mode RV diastolic dimension does not capture the real RV changes. Amplatzer septal occluder closure of ASD influences the RA geometry, which is reflected by the higher transverse to longitudinal RA axis ratio.     

Toriello-Carey syndrome: Evidence for X-linked inheritance

Toriello-Carey syndrome is characterized by agenesis of the corpus callosum, telecanthus, short palpebral fissures, Robin sequence, abnormal ears, cardiac anomalies, and hypotonia. We describe two patients with Toriello-Carey syndrome and call attention to an unbalanced sex ratio. The first patient, a male, was born at term by Cesarean section and manifests micrognathia, cleft soft palate, hypoplastic right ear, anotia on the left side, cerebellar vermis hypoplasia, hydrocephalus, agenesis of the corpus callosum, and hypoplastic left heart. He died 2 days after birth. The second patient is the male sib of a patient reported previously [Am J Med Genet 42: 374–376; 1992]. He had large fontanelles, telecanthus, a short nose, small and malformed ears, micrognathia, a large ventricular septal defect, and pulmonary stenosis. At age 8 months he has growth retardation and developmental delay. A sister is unaffected. Review documented eight other patients with Toriello-Carey syndrome, six of whom were male. The two female patients are less severely affected and are still alive. Of the other male patients, all are deceased except one who is still alive at age 5 years; he has severe growth retardation (-3 SD), mental retardation (DQ44), severe speech delay, and characteristic anomalies. The predominance of affected males and the milder phenotype in the female patients suggests an X-linked gene or sex influenced gene. © 1996 Wiley-Liss, Inc.     

国产封堵器介入治疗房间隔缺损的疗效及安全性

目的 评价应用国产房间隔封堵器治疗房间隔缺损的疗效及安全性。方法 12例房间隔缺损患者，男性4例，女性8例，年龄18-45岁。对患者均使用经体表超声心动图（TTE）监测。封堵器选用国产房间隔封堵器（北京华圣杰科技有限公司研制）。房间隔缺损封堵术后48h进行TTE复查，术后1、3、6个月随访得查心电图、TTE、X线，并观察疗效及安全性。结果 11例封堵手术成功，即刻手术成功率91.67%，术中及术后48hTTE星移斗转测均无残余分流。术后1、3、6个月随访，原有临床不适症状缓解，TTE显示封堵器位置稳定，房间隔水平无分流。结论 国产房间隔封堵器对房间隔缺损进行介入治疗，临床使用有效、安全。     

经皮穿刺封堵室间隔膜部缺损的应用解剖

目的:为经皮穿刺室间隔膜部缺损的封堵术提供应用解剖学基础。方法:解剖测量38例(男25.女13)正常成年人的心标本的室间隔膜部及周围结构。结果:室间隔膜部的形态可分为三角型、圆型和椭圆型;各型的出现率分别为58％(22例)、23.7％(9例)和18.3％(7例)。室间隔膜部在左室面的高度为(8.79±2.27)mm。右室面高度为(6.43±1.43)mm。室间隔膜部的长度为(9.37±2.52)mm。室间隔膜部上、下、前、后方和中点的厚度分别为(0.80±0.19)mm、(0.70±0.16)mm、(0.78±0.28)mm、(0.75±0.1 5)mm和(0.52±0.13)mm。结论:室间隔膜部以三角型为主,多位于室上嵴的后缘,膜部的左室面高于右室而和靠近右室面,建议封堵器的左室面的面积应大于右室面。     

Ventricular septal defect associated with microdeletions of chromosome 22q11.2

Microdeletions of chromosome 22q11.2 (del.22q11) cause DiGeorge syndrome, velo-cardio-facial syndrome, and conotruncal anomaly face syndrome, which are commonly associated with conotruncal heart anomalies. Approximately 15% of the patients manifest ventricular septal defect (VSD), and the conal septal type of VSD has been proposed to be associated with del.22q11, since it is categorized as a conotruncal anomaly. However, the types of VSD associated with del.22q11 remain poorly studied. The purpose of this study is to assess whether conal septal VSD or other types of VSDs are associated with del.22q11. We analyzed the chromosomes of 22 consecutive patients with conal-septal VSD, prospectively, and evaluated the types of VSD observed in 3 patients with del.22q11, retrospectively. Del.22q11 was not detected in any of the 22 patients with conal septal VSD. All the VSDs observed in the 3 patients with del.22q11 were a perimembranous type of VSD, which is not a conotruncal anomaly. Our results suggest that perimembranous VSD can be associated with del.22q11, but del.22q11 is not a common cause of conal-septal VSD.     

The natural course of atrial septal defect in adults — A still unsettled issue

Summary Atrial septal defect is the most frequently encountered major congenital cardiac disorder in the adult population, with a prevalence of 0.2 to 0.7 per thousand. Several patients tolerate large unrepaired defects for 80 years or even longer without serious disability. However, it is assumed that, as a rule, atrial septal defect reduces life expectancy, the average age at death not exceeding 50 years. This estimation is based on studies derived mainly from necropsy series or from the admission profile of patients undergoing late operative repair. The onset of atrial fibrillation, with an incidence ranging from 13 to 52 percent among patients older than 40 years, as well as the progression of pulmonary arterial hypertension in up to 53 percent of patients, results in congestive heart failure and functional limitation. On the other hand, very few longitudinal studies thus far have directly and systematically followed the course of adults with unrepaired defects. Thus, many issues regarding the natural history and prognosis of atrial septal defect still remain unresolved. Follow-up series of older patients with nonoperated defects could yield valuable information even in an era when routine early surgical closure is increasingly being recommended.Abbreviations NYHA New York Heart Association: functional classification of heart failure - Qp/Qs ratio left-to-right shunt determined by the ratio of pulmonary (Qp) to systemic flow (Qs) This article is dedicated to Prof. Dr. med. W. Gerok on the occasion of his 65th birthdayRecipient of a DAAD scholarship     

室间隔缺损胎儿心室肌组织微小RNAs时序性表达差异研究

目的采用微小RNAs（miRNAs）表达谱芯片分析不同孕龄（孕早期与孕中期）室间隔缺损（VSD）胎儿心室肌组织中时序性表达差异的miRNAs。方法连续性纳入2009年7～12月南京医科大学附属南京妇幼保健院因病理因素流产经解剖证实为VSD且不合并其他畸形的胎儿为VSD组。以同期因生理性难免流产,并经解剖证实无心脏畸形和其他器官畸形的胎儿为对照组,依据孕龄与VSD组1：1匹配。根据孕龄,将VSD组和对照组分别分为孕早期亚组和孕中期亚组。采用Agilent Human2.0 miRNAs表达谱芯片观察胎儿心室肌组织miRNAs表达变化,芯片数据采用生物信息学方法进行分析,包括差异miRNAs筛选,预测miRNAs靶基因Gene Ontology分析,靶基因信号通路分析,并采用实时PCR法验证芯片结果。结果 VSD组和对照组各纳入6例,两组孕早期亚组和孕中期亚组均各3例。①通过差异miRNAs筛选,发现孕早期VSD亚组与孕中期VSD亚组间有33个时序性表达差异的miRNAs。19个miRNAs在孕早期VSD亚组表达上调,在孕中期VSD亚组表达下调;14个miRNAs在孕早期VSD亚组表达下调,在孕中期VSD亚组表达上调。②生物信息学预测到2761个靶基因,大部分miRNAs的靶基因中含有与心脏发育直接相关的关键基因（TBX5、GATA4、TBX1和NKX2-5等）。③靶基因GeneOntology分析表明其中与细胞进程、代谢过程和生物调控相关的靶基因分别占整个靶基因数量的23.5%、18.3%和17.7%。④靶基因信号通路分析发现,WNT信号通路中的靶基因在孕早期VSD亚组与孕中期VSD亚组中存在时序性差异。⑤随机挑选孕早期VSD亚组与孕中期VSD亚组时序性表达差异的4个miRNAs（hsa-miR-19a、hsa-let-7e、hsa-miR-134和hsa-miR-206）进行验证,定量PCR结果显示,孕早期VSD亚组分别上调3.2（hsa-miR-19a）和4.1倍（hsa-let-7e）,下调5.3（hsa-miR-134）和4.4倍（hsa-miR-206）;孕中期VSD亚组分别下调4.8（hsa-miR-19a）和3.4倍（hsa-let-7e）,上调4.5（hsa-miR-134）和3.9倍（hsa-miR-206）。结论时序性表达差异的miRNAs在胎儿VSD畸形的发生中可能起着重要作用,但本研究样本量较小,需要进一步扩大样本量进行验证。这些差异表达miRNAs的预测靶基因与细胞发育、分化和代谢密切相关,含有与心脏发育直接相关的关键基因,部分靶基因为WNT信号通路中的关键因子,提示VSD的发生发展是机体在miRNAs的参与下,在多个层面上使基因表达失控的共同结果。     

ECG Conduction disturbance in the first-degree relatives of children with ventricular septal defect

A detailed cardiological examination was made in the first-degree relatives of 94 index patients with ventricular septal defect and in 94 matched control cases. Incomplete or suspect right bundle branch blocks were found in 18.3 % and in 4.1 %, respectively, of first-degree relatives of index and control groups. The difference is highly significant. These intraventricular conduction disturbances may be subthreshold signs of septal defects.     

Proteus syndrome with cardiomyopathy and a myocardial mass

Proteus syndrome is and overgrowth syndrome principally affecting cutaneous and skeletal tissues, accompanied by subcutaneous hamartomas. We report on a patient with predominantly skeletal and visceral involvement, including a cardiac mass and thickening of the myocardial septum affecting cardiac conduction and contraction. © 1993 Wiley-Liss, Inc.     

Pulmonary atherosclerosis associated with an atrial septal defect in old age: case report of an elderly autopsied patient

In the literature, there are few studies on atherosclerosis in the pulmonary artery in human beings, especially in aging. The aim of the study was to report the anatomic pathological aspects of an old patient who had severe pulmonary atherosclerosis associated with an atrial septal defect (ASD). The patient had marked atherosclerosis in the pulmonary trunk and its branches, probably caused by a series of hemodynamic and endothelial changes, subsequent to the ASD. The left to right shunt could have caused an increase in the blood flow and pulmonary hypertension, intensified by the vascular alterations in the region. This hypertension probably became intense to the point of reversing the direction of the shunt, from the right to the left, characterizing a probable Eisenmenger syndrome, responsible for the patient's dyspnea and cyanosis. Our study demonstrates a condition that is especially infrequent because of the patient's age of 64 years and, thus, adds to the literature.