Cantrell's pentalogy--a case report

Pentalogy of Cantrell is a rare multiple congenital malformation syndrome characterized by a combination of features: a midline supraumbilical abdominal wall defect, a defect of the lower sternum, a defect of the diaphragmatic pericardium, deficiency of the anterior diaphragm, and congenital cardiac anomalies. This congenital defects could be diagnosed as early as in the first trimester of pregnancy. The complexity of this anomaly especially coexistent heart defects, determines the way and order of surgical treatment and commonly is a prognostic factor. A case of male newborn with prenatal diagnosed omphalocele and diaphragmatic hernia is reported in the present work. The child was operated within two hours after birth. Intraoperativelly a significant defect of diaphragmatic pericardium and heart surrounded by a small bowel were discovered. The defect of diaphragm was sutured and a drainage of left pericardial cavity was put in place. Afterwards, the abdominal wall defect was sutured after transferring organs into a peritoneal cavity. Six days after the procedure cardiac sonography was performed and it indicated the presence of hemodynamically insignificant congenital intracardiac defect--atrial septal defect. Up-to-date psychomotor development of the boy currently five months old, is correct. Prenatal diagnosis of the complexity of congenital defects and possibility of fetus condition monitoring allows to plan precisely the time and way of the delivery as well as to decide the treatment method of the newborn. Due to the absence of hemodynamic disorders and in spite of the present cardiac defect, an early surgical treatment of our patient was possible.     

HLHS--congenital heart defect in High Risk Pregnancy Unit in 2001-2007

BACKGROUND: HLHS (hypoplastic left heart syndrome) is a serious congenital heart defect. In neonates with congenital heart disease HLHS accounts for nearly 25% of neonatal deaths. The etiology of HLHS is unknown. At present we expect to have those cases diagnosed in the second trimester of pregnancy. AIM: The main aim was to find the rate and outcome of the congenital heart defect--left heart hypoplasia (HLHS). MATERIAL AND METHODS: All cases of this heart defect found in the High Risk Pregnancy Clinic in 2001-2007 were presented. Twice the congenital malformation was diagnosed after delivery and once during pregnancy--in the second trimester. All babies were delivered between 38 and 39 weeks of pregnancy, one by the spontaneous normal delivery, one by elective caesarean section and one by emergency caesarean section because of fetal distress during the delivery. All of the newborns were transported to the Pediatric Cardio surgery Unit of M.U. and operated in first weeks after delivery. RESULTS: In two cases the operation was complicated and children died due to the cardiac arrest. One of the babies died before surgical correction. Two of the women, whose babies died after the operation gave birth to healthy newborns with no cardiac abnormalities. CONCLUSION: The HLHS is the most serious heart congenital malformation diagnosed often after the delivery because of lack of sufficient diagnostic system in healthy women. The prognosis for the children is bad, but the chance of giving birth to healthy children in the future is good.     

Prenatal diagnosis of coarctation of the aorta with ventricular septal defect: A case report

Objective

To present an accurate prenatal diagnosis of coarctation of the aorta with ventricular septal defect and to illustrate how early diagnosis in prenatal period with proper referral and counseling can optimize management.

妊娠合并先天性心脏病伴肺动脉高压79例妊娠结局分析

目的分析妊娠合并先天性心脏病伴肺动脉高乐患者的妊娠结局。方法回顾性分析2009年1月至2013年6月北京安贞医院妇产科收治的79例妊娠合并先天性心脏病伴肺动脉高压患者的临床资料,根据肺动脉压力将其分为轻度组、中度组、重度组。分析各组先天性心脏病种类、心功能级别、终止妊娠的方式以及母婴结局。结果先心病类型以房间隔缺损（房缺）和室间隔缺损（室缺）为主,肺动脉高压轻度组心功能以Ⅰ～Ⅱ级为主,重度组心功能以Ⅲ～Ⅳ级为主。79例患者中,行医源性流产者16例（20．8％）,经阴道分娩5例（6．5％）,剖宫产56例（72．7％）。重度组医源性流产率高于其他组,足月分娩率低于其他组,差异有统计学意义（P〈0．05）。新生儿早产20例（32．8％）,足月产41例（67．2％）,死产1例,随着肺动脉压力的增加,早产的发生率增加,三组之间相互比较差异有统计学意义（P〈0．05）。结论肺动脉高压患者应在妇产科及心脏科医师指导下妊娠,不宜妊娠者应及早终止妊娠。孕产妇终止妊娠方式以剖宫产为主,麻醉方式以硬膜外麻醉为宜。     

Complex conotruncal cardiac anomalies consecutively in three siblings from a consanguineous family possibly associated with maternal hyperhomocysteinemia

Introduction Conotruncal defects represent an anatomically heterogeneous group of cardiac malformations affecting the outflow tract of the ventricles and the arterial pole of the heart. The exact etiology of congenital heart diseases is unknown. Case report A 31–year-old woman who had three offspring with complex conotruncal cardiac anomalies after consanguineous marriage was reported. The first child is still alive. However, the second affected child died at the age of 3 years. Fluorescence in situ hybridization studies of the siblings excluded CATCH₂₂ chromosomal abnormality. The maternal laboratory work-up was unremarkable except for low serum folic acid and cobalamin levels and high homocysteine levels. The woman received high dose pyridoxine, cobalamin and folate treatment preconceptionally, and she became pregnant. She delivered a healthy male infant without any abnormalities. Six months later, she became pregnant again without any preconceptional medications. When she was examined during the fourth pregnancy, unfortunately the fetus was found to have a restrictive ventricular septal defect, a right ventricle with two outflows and a right aortic arch. Her last pregnancy was terminated at 22 weeks. The 22-week-old female fetus was examined postmortem and the diagnosis of congenital heart disease was confirmed. Conclusion Cobalamin and folate administration may help to reduce the development of cardiac malformations.     

超声心动图的四腔心切面产前诊断胎儿先天性心脏病的价值

目的 探讨超声心动图的四腔心切面（四腔心切面）产前诊断胎儿先天性心脏病（先心病）的价值。方法 回顾性分析780例妊娠16-36周通过四腔心切面进行产前诊断是的孕妇及其新生儿的临床资料。结果 780例胎儿中,94.6%,(738/780)的胎儿可以获取满意的四腔心切面,其中3例胎儿异常,1例为三尖瓣下移畸形（Ebstein综合征）,1例为严重的室间隔缺损,1例为单心房单心室和主动脉狭窄,例1和例3分别于出生后行尸体解剖和新生儿超声心动图检查,均符合产前诊断,例2出生后超声心动图检查证实为单心房和单心室,其余777例新生儿中,出生后身体检查并追踪至产后6周,发现3例先心病,其中1例室间隔缺损,1例房间隔缺损,1例房间隔缺伴肺动脉狭窄,四腔心切面诊断胎儿先心病的敏感性为50%,特异性为100%。结论 四腔心切面可以显示胎儿心脏的大部分结构,探测成功率高,对先心病的宫内诊断有较高的敏感性和极高的特性,可将胎儿四腔心切面作为常规的产检查项目。     

Crossed pulmonary arteries: report of two cases with emphasis on three-dimensional helical computed tomographic imaging.

Crossed pulmonary arteries are due to an anomalous origin of both pulmonary arteries from the main pulmonary trunk. This anatomy is often associated with other congenital cardiac and extracardiac diseases. We report two neonates with complex congenital heart disease who had this disorder, which was detected during cardiac computed tomography (CT) with three-dimensional reconstruction but not during echocardiography or angiography. The first patient was a 3-day-old male neonate who had tachypnea and feeding problems since birth. Cardiac CT showed crossed pulmonary arteries, type B interruption of the aortic arch, a ventricular septal defect, and a large patent ductus arteriosus. He received an emergency T-colostomy at 3 days of age because of severe bowel distention. Low-type imperforated anus was diagnosed. His postoperative course was complicated with fluctuated saturation, seizure, hypocalcemia, hyperphosphatemia, and sepsis. Also found were cardiac defects, abnormal facies, thymic hypoplasia, cleft palate, hypocalcemia, and a variable deletion on chromosome 22q11 (CATCH 22 disorder). Because of his poor prognosis, the patient was transferred to another hospital on day 16 for further care, at the family's request. The other patient was a 5-day-old female neonate who had a heart murmur since birth. Cardiac CT showed crossed pulmonary arteries, truncus arteriosus, type A interruption of the aortic arch, a ventricular septal defect, an atrial septal defect, and a large patent ductus arteriosus. She received complete surgical correction, including division of the patent ductus arteriosus and repair of the other defects. Intermittent respiratory distress and decreased blood pressure complicated her postoperative course, and she died on the eighth day after surgery. Crossed pulmonary arteries complicated accurate interpretation of two-dimensional echocardiographs of the great vessels, as well as the course and location of catheters during cardiac catheterization. Three-dimensional CT provided a noninvasive approach to clearly recognize these malformations and the related anatomic structures. This information is important in planning and performing surgery in neonates with crossed pulmonary arteries.     

Severe fetal valproate syndrome: combination of complex cardiac defect,multicystic dysplastic kidney,and trigonocephaly

Valproic acid (VPA) is a teratogenic drug used in pregnant women for the treatment of epilepsy and mood disorders. Fetal valproate syndrome (FVS) is characterized by a number of abnormalities associated with VPA exposure in utero including neural tube defects, congenital heart defects, limb defects, genitourinary defects, brain, eye and respiratory anomalies, and abdominal wall defects. Complex cardiac defect and trigonocephaly have rarely been reported and multicystic dysplastic kidney has never been detected in FVS. We here report a female infant who was born to a mother with a history of low-dose VPA monotherapy (250?mg/day) during pregnancy and who had presented with a combination of unilateral multicystic dysplastic kidney, multicomplex cardiac defect including severe coarctation of aorta, Ebstein anomaly, secundum atrial septal defect, mesocardia along with trigonocephaly due to metopic craniosynostosis, typical facial appearance and limb defects. To our knowledge, this is the first case presented with multicystic dysplastic kidney, complex cardiac defect, trigonocephaly and other limb and facial defects because of exposure to very low-dose VPA monotherapy (250?mg/day) in utero. We conclude that VPA must be used very cautiously in pregnant women even as monotherapy and in low doses to prevent major congenital defects.     

Concordant familial segregation of atrial septal defect and Axenfeld-Rieger anomaly in father and son

The association of congenital heart defect and ocular malformations is involved in several genetic syndromes, metabolic diseases and environmental entities. We report here on father and son, both presenting with the combination of atrial septal defect and congenital ocular anomalies in Axenfeld-Rieger anomaly. The son had anterior iridotrabecular dysgenesis and posterior embryotoxon bilaterally, corneal leucoma and marked iridial vascularization at right. The father had bilateral anterior iridotrabecular dysgenesis, posterior embryotoxon and nystagmus, and corneal leucoma at left. No additional malformations were noted in these patients. The Axenfeld-Rieger syndrome seems to be a spectrum of developmental disorders. The present report confirms the existence of a specific Axenfeld-Rieger phenotype associated with congenital heart defect. Atrial septal defect is the anatomic type of congenital heart defect linked to this condition.     

Prenatal diagnosis of congenitally corrected transposition of the great arteries. A case report

Congenitally corrected transposition of the great arteries (CTGA) is an uncommon congenital cardiac anomaly. Prenatal sonographic diagnosis of CTGA is very difficult because the ventricular outflow tract may appear to arise correctly from the right and left ventricles. Few cases of CTGA diagnosed in utero have been reported. We report a case of CTGA with complete heart block, ventricular septal defect and pulmonary valve stenosis diagnosed at 30 weeks' gestation after the mother was referred to our hospital because of persistent fetal bradycardia.     

心脏手术后妊娠分娩217例临床分析

目的:探讨心脏病患者孕前行心脏手术对妊娠结局的影响。方法:回顾性分析1993年1月至2010年9月上海交通大学医学院附属仁济医院妇产科收治的行心脏手术后妊娠及分娩的217例患者的临床资料,并与同期住院心脏疾病谱相同的孕前未行心脏手术的217例患者进行比较。结果:(1)手术组患者中先天性心脏病171例(78.80%),风湿性心脏病35例(16.13%),心律失常11例(5.07%)。(2)手术组患者中行先天性心房间隔缺损修补术60例(27.65%),室间隔缺损修补术47例(21.66%),动脉导管结扎/封堵术22例(10.14%),法洛氏四(三/五)联症矫治术25例(11.52%);风心二尖瓣换瓣/球囊扩张/成形/分离术28例(12.90%),二尖瓣、主动脉瓣联合换瓣术6例(2.76%);心脏起搏器术6例(2.76%),射频消融术5例(2.30%)等。(3)手术组患者孕期心功能Ⅰ～Ⅱ级209例(96.31%),心功能Ⅲ～Ⅳ级8例(3.69%),对照组患者孕期心功能Ⅰ～Ⅱ级183例(84.33%),心功能Ⅲ～Ⅳ级34例(15.67%)。手术组患者的孕前心功能分级与对照组比较无统计学意义(P=0.088),但孕期心功能Ⅰ～Ⅱ级者多于对照组,Ⅲ～Ⅳ级者明显减少,差异有统计学意义(P=0.000)。(4)手术组与对照组孕期发生急性心功能衰竭分别为4例(1.84%)、18例(8.29%),严重心律失常分别为1例(0.46%)、8例(3.69%);足月产儿分别为189例(87.10%)、147例(67.74%),早产儿分别为24例(11.06%)、57例(26.27%),小于胎龄儿分别为16例(12.44%)、42例(19.35%),新生儿窒息分别为3例(1.38%)、15例(6.91%),治疗性流产分别为2例(0.92%)、12例(5.53%),两组差异均有统计学意义(P<0.05)。(5)手术组中无孕产妇及围产儿死亡,对照组中孕产妇死亡2例(0.92%),围产儿死亡2例(0.92%)。结论:妊娠前心脏手术可改善患者孕期的心功能,约96%的患者心脏手术后心功能为Ⅰ～Ⅱ级,能顺利妊娠及分娩,且妊娠结局良好。     

Prenatal diagnosis of complete atrioventricular septal defect with truncus arteriosus

Truncus arteriosus (TA) is a rare cardiac anomaly constituting less than 1% of all congenital heart defects. Its association with complete atrioventricular septal defect (AVSD) is extremely unusual and only 12 cases diagnosed postnatally or postmortem have been reported so far. We describe the first case of truncus arteriosus with AVSD to be diagnosed prenatally by fetal echocardiography.     

Clinical implication of isolated right dominant heart in the fetus

OBJECTIVE: To evaluate the clinical implication of isolated right dominant heart (RDH) in fetal echocardiography. STUDY DESIGN: We reviewed the medical records of pregnant women diagnosed with fetal RDH at Asan Medical Center from December 1999 to December 2005. The criteria of RDH were the ratio of right-to-left atrial and ventricular width and the ratio of the diameter of pulmonary artery-to-aorta were greater than 1.5. Fetuses with congenital heart disease, including coarctation of the aorta (CoA), noncardiac anomalies or chromosomal abnormalities were excluded. RESULTS: RDH was identified in 44 fetuses. Twenty-nine (66%) were confirmed to have normal heart and 15 (34%) had cardiac anomalies by postnatal echocardiogrphy; 11 CoA, 1 interruption of aortic arch, 1 patent ductus arteriosus, and 2 ventricular septal defect. Mean gestational age at presentation with RDH was later in normal fetuses as compared to fetuses with CoA (p < 0.005). Only 26% (4/15) of fetuses presenting with RDH during the second-trimester were found to have normal heart postnatally, compared with 86% (25/29) of those diagnosed in the third-trimester. CONCLUSION: RDH in the fetus is a risk factor for postnatal CoA particularly when diagnosed in the second-trimester, and should be an indication for neonatal echocardiography.     

Insight into the Genetic Relevance of Congenital Heart Defects

Congenital heart disease is the most common type of birth defect in the newborn??occurring in 1?% of neonates. In addition, cardiac defects account for nearly half of the neonatal deaths resulting from congenital malformations. Due to recent advances in spatial resolution of ultrasound machines and improvements in sonographic techniques, the clinician is increasingly able to detect cardiac anomalies in utero. At the same time, advances in cardiovascular surgery have improved the overall survival of the affected neonates. Due to the combination of advances in prenatal diagnosis and postnatal intervention, parents with fetuses affected by congenital cardiac defects have become the largest group who seek prenatal counseling on the risks of associated anomalies, risks for subsequent pregnancies, and the risks to the offspring of a successfully treated patient. Although most congenital heart defects are not familiarly clustered, genetic factors are still involved in most cases. In this review, we summarize recent evidence of chromosomal and genetic defects associated with congenital heart diseases to provide the optimal counseling and management for the parents with affected neonates.     

Aortopulmonary window with atrial septal defect: prenatal diagnosis, management and outcome

A case of prenatally diagnosed aortopulmonary window is reported. The mother was referred for fetal echocardiography at 26 weeks' gestation because of suspected congenital heart disease. Prenatal echocardiography showed an aortopulmonary septum defect close to the pulmonary artery bifurcation and a left-to-right shunt flow in systole and early diastole detected by color flow Doppler. Postnatal echocardiography confirmed prenatal diagnosis, the aortopulmonary window was a 9-mm type III aortopulmonary window. An atrial septal defect with shunt flow left to right was also found. Surgical repair was performed 4 weeks after birth, the postsurgical period was uneventful and the newborn was discharged without complications 7 days after surgery.     

Prenatal diagnosis of Ebstein’s anomaly using spatio-temporal image correlation (STIC) and inversion mode

BACKGROUND: Ebstein's anomaly is a rare cardiac defect where the septal and posterior leaflets are displaced, towards the right ventricle. The leaflets are dysplastic and stuck to the ventricular wall. Its antenatal diagnosis is usually made through bidimensional echocardiography, which also has prognostic value. Recently, the technological breakthrough of three-dimensional ultrasound (3D-US) offered new diagnostic tools for congenital heart defects, less dependent on the ultrasonographer experience, when compared to two-dimensional ultrasound (2D-US). The spatio-temporal image correlation (STIC) technique allows the acquisition of the fetal heart volume and its structures as a 4D cineloop sequence showing the complete cardiac cycle. Inversion mode is a new image analysis tool for the examination of fluid-filled fetal structures that inverts the gray scale. CASE REPORT: We present a case of Ebstein's anomaly diagnosed at 26 weeks of pregnancy through bidimensional echocardiography. We emphasize its main findings in 3D-US using the STIC and inversion mode techniques.     

三个心脏超声切面在常见先天性心脏病产前诊断中的作用

目的 探讨三个胎儿超声心动图标准切面：四腔心切面、五腔心切面、三血管平面在发现和诊断胎儿常见先天性心脏病中的作用及对于先天性心脏病产前筛查的意义。方法 回顾2003年5月至2004年7月胎儿心脏畸形各病例的心脏超声图像，记录每一病例三个超声切面（四腔心切面、五腔心切面、三血管平面）的彩色多普勒超声图像表现，分析并总结各切面异常表现的特点。结果 （1）研究共包括胎儿心脏畸形病例26例，疾病类型包括房室间隔缺损、单纯性室间隔缺损、单心室、单心房、左心发育不良综合征、法洛四联症、右心室双出口、纠正性／完全性大动脉转位、动脉单干、主动脉瓣狭窄、肥厚性心肌病（梗阻型）、心脏肿瘤。（2）各心脏畸形病例在这三个心脏超声切面的扫查中至少有1个切面显示异常。每一类心脏畸形在这三个切面图像上均有特征性表现。（3）所有病例中二维四腔心切面（常规产科筛查切面）显示异常的比例为73％，四腔心切面未显示异常的病例包括：完全性大血管转位3例、法洛四联症1例、右心室双出口1例、动脉单干1例、主动脉骑跨伴室间隔缺损1例。（4）各标准切面获得率分别为：96．2％、88．5％、84．6％。结论 （1）四腔心切面、五腔心切面、三血管平面这三个胎儿彩色多普勒心脏超声切面探查在各类胎儿常见的先天性心脏病超声产前检查与诊断中起重要的作用。（2）与运用单个二维四腔心切面探查比较，三个切面的探查方法可提高常见先天性心脏病，尤其是胎儿心脏锥干畸形的检出率。（3）三个切面探查操作较为简便，有望成为一项胎儿先天性心脏病的筛查方法。     

Antenatal diagnosis of congenital heart disease and fetal arrhythmia by ultrasound: prospective study

Fetal echocardiographic and Doppler ultrasonographic prospective studies were performed in utero on 299 babies delivered at Hirata Municipal Hospital, Shimane, Japan, from May 1984 to June 1986. Two or three ultrasonographic examinations were performed on each fetus from 20 weeks of gestation to term. Three congenital heart anomalies and 12 fetal arrhythmias were diagnosed antenatally, but 3 heart anomalies (2 small ventricular septal defects and 1 moderate pulmonary stenosis) were not detected in utero. Routine echocardiographic screening appears to be a useful diagnostic tool to detect congenital heart anomalies and fetal arrhythmia antenatally.     

Fetal Echocardiography Assists in Determining Optimal Delivery Site

ObjectiveCongenital heart disease is one of the most common types of structural fetal abnormalities and a major cause of perinatal morbidity and mortality. Fetal echocardiography aids in the diagnosis of congenital heart disease, which allows management planning for parents and physicians, including continuation or termination of the pregnancy and triaging for location of delivery. This is a key component of planning, as transport of neonates entails risks, costs, and parental stress. In this study, we examined the outcomes of pregnancies with fetal cardiac anomalies diagnosed at a single tertiary care centre. We aimed to assess whether the system of directing affected pregnancies to either a tertiary and quaternary care centre is effective.MethodsWe identified pregnancies with fetal cardiac anomalies diagnosed on fetal echocardiography between 2005 and 2009. Information about diagnosis, pregnancy outcome, delivery location, and surgical management was collected. This information was analyzed retrospectively.ResultsAnomalies were demonstrated in 120 fetal echocardiography studies. Four of the babies (3.3%) were stillborn, and 27 (22.5%) pregnancies were terminated. There were 89 live born babies, and 74 of these (61.7%) survived the neonatal period. Fifteen babies (12.5%) died as neonates. Thirty-two pregnant women were triaged to deliver at the quaternary centre with pediatric cardiac surgery services, and 20 of these babies underwent surgery. Two of the 89 live born babies (2.2%) required emergency transfer.ConclusionFetal echocardiography is an important contributor to efficient use of pediatric cardiac services and minimizes need for neonatal transfer. Contemporary use of fetal echocardiography is associated with optimized delivery location.     

Four-dimensional ultrasonography of the fetal heart with spatiotemporal image correlation

OBJECTIVE: This study was undertaken to describe a new technique for the examination of the fetal heart using four-dimensional ultrasonography with spatiotemporal image correlation (STIC). STUDY DESIGN: Volume data sets of the fetal heart were acquired with a new cardiac gating technique (STIC), which uses automated transverse and longitudinal sweeps of the anterior chest wall. These volumes were obtained from 69 fetuses: 35 normal, 16 with congenital anomalies not affecting the cardiovascular system, and 18 with cardiac abnormalities. Dynamic multiplanar slicing and surface rendering of cardiac structures were performed. To illustrate the STIC technique, two representative volumes from a normal fetus were compared with volumes obtained from fetuses with the following congenital heart anomalies: atrioventricular septal defect, tricuspid stenosis, tricuspid atresia, and interrupted inferior vena cava with abnormal venous drainage. RESULTS: Volume datasets obtained with a transverse sweep were utilized to demonstrate the cardiac chambers, moderator band, interatrial and interventricular septae, atrioventricular valves, pulmonary veins, and outflow tracts. With the use of a reference dot to navigate the four-chamber view, intracardiac structures could be simultaneously studied in three orthogonal planes. The same volume dataset was used for surface rendering of the atrioventricular valves. The aortic and ductal arches were best visualized when the original plane of acquisition was sagittal. Volumes could be interactively manipulated to simultaneously visualize both outflow tracts, in addition to the aortic and ductal arches. Novel views of specific structures were generated. For example, the location and extent of a ventricular septal defect was imaged in a sagittal view of the interventricular septum. Furthermore, surface-rendered images of the atrioventricular valves were employed to distinguish between normal and pathologic conditions. Representative video clips were posted on the Journal's Web site to demonstrate the diagnostic capabilities of this new technique. CONCLUSION: Dynamic multiplanar slicing and surface rendering of the fetal heart are feasible with STIC technology. One good quality volume dataset, obtained from a transverse sweep, can be used to examine the four-chamber view and the outflow tracts. This novel method may assist in the evaluation of fetal cardiac anatomy.