Congenitally Corrected Transposition of the Great Arteries in a Patient With Cor Triatriatum: A Rare Combination

Congenitally corrected transposition of the great arteries is a rare anomaly that is thought to arise from a defect in looping of the primitive cardiac tube. Cor triatriatum is another rare congenital cardiac anomaly due to faulty incorporation of the common pulmonary vein into the left atrium. We present a rare case comprising both disorders in one patient.     

Univentricular Heart With Bridging Bronchus and Sling Left Pulmonary Artery

A bridging bronchus (BB) is a rare congenital heart anomaly. Frequently, BB also is complicated with congenital cardiac malformation, especially with sling (retrotracheal) left pulmonary artery (SLPA). This report presents a patient who underwent a Norwood procedure for a complex congenital heart disease with BB and SLPA.     

Symptomatic moyamoya disease and aortic coarctation in a patient with Noonan's syndrome: strategies for management.

Noonan's syndrome is a multiple congenital anomaly syndrome with characteristic facial features, short stature, congenital heart defects and a recently reported association with moyamoya disease. We report a case of symptomatic moyamoya disease and aortic coarctation in a patient with Noonan's syndrome. The case illustrates the need for a rational, coordinated treatment plan for dealing with the cardiac and neurologic syndromic anomalies to help avoid undesirable outcomes.     

Echocardiographic and Three-Dimensional Computed Tomographic Diagnosis of Crossed Pulmonary Arteries: Report of Three Cases

Crossed pulmonary arteries are rare anomalies of the pulmonary trunk and its branches. In this anomaly, the ostium of the left pulmonary artery originates superiorly and to the right of the right pulmonary artery. This anomaly is usually associated with other congenital cardiac and extracardiac diseases. We report three neonates with congenital cardiac diseases who had this anomaly, which was detected first by echocardiography and then confirmed by cardiac three-dimensional computed tomography.     

An Autopsy Case of Klippel-Feil Syndrome with Cardiovascular Anomalies and Upper Limb Anomaly

Abstract An autopsy case of Klippel-Feil syndrome with the classical triad of short neck, low posterior hairline and limitation of neck movement is reported. The patient died of cardiac failure resulting from complicated serious cardiovascular anomalies such as double outlet right ventricle, congenital mitral valve stenosis and coarctation of aorta. The condition was also complicated by radial ray deficiency of the left arm and asymmetry of the thyroid gland. Narrowing of the left subclavian and axillary arteries was detected by angiography while the patient was alive, a finding which may suggest the etiology of this congenital anomaly complex.     

Surgical therapy for sudden cardiac death in children

Sudden cardiac death (SCD) in children is the result of multiple etiologies and treatment (prophylaxis) must be tailored accordingly. In children who do not have congenital heart disease, surgical therapy of SCD typically consists of implantation of an internal defibrillator, with specific attention to the small size of the patient. In children who have unrepaired congenital heart disease, therapy of SCD is primarily repair of the congenital anomaly. In children or young adults who have previously undergone surgery for congenital heart disease, SCD therapy consists of repair of any residual or acquired structural defect, often in combination with antiarrhythmia surgery or defibrillator implantation.     

先天性脊柱畸形合并泌尿生殖系统畸形发病情况及相关因素分析

目的 了解先天性脊柱畸形患儿中泌尿生殖系统畸形的发生率并探讨其与多种因素之间的联系.方法 选取2003年3月至2008年11月入院治疗的425例先天性脊柱畸形患儿,术前均行腹部B超了解泌尿生殖系统畸形情况、行脊柱CT了解脊柱畸形及脊柱内神经畸形、行心电图除外心脏异常,出现阳性结果行MRI及超声心动网以确诊.结果 先天性脊柱畸形患儿中泌尿生殖系统的发生率为11.8%(50/425),其发病与胎次、母亲年龄、出生地差异、脊柱畸形的分类、侧弯部位、侧弯方向以及是否合并心血管畸形、椎管内神经系统畸形均无统计学关系.泌尿生殖系统畸形的患儿出生时父亲年龄较无泌尿生殖畸形的患儿父亲年龄大(P=0.018),合并泌尿生殖系统畸形的患儿较易合并肋骨畸形(P=0.011).结论 先天性脊柱畸形患儿合并泌尿生殖系统畸形的发生率较高,需引起临床高度重视,从而给予适当处理.     

Total one-stage repair of aortopulmonary window and interrupted aortic arch in a neonate

The congenital anomaly of aortopulmonary window is rare. Its combination with interruption of the aortic arch has been previously recognized and reported in infants and children. Early and complete repair of such a congenital anomaly may prevent progression to cardiac failure and premature death. We describe the successful echocardiographic diagnosis and one-stage surgical repair, via a median sternotomy, of the aortopulmonary window, interrupted aortic arch, patent ductus arteriosus, and patent foramen ovale in a 3-day-old neonate. The literature is also reviewed.     

An unusual case of esophageal and laryngotracheal atresia

Esophageal atresia with or without tracheoesophageal fistula is a relatively common congenital anomaly. However, esophageal atresia with associated laryngotracheal atresia, double tracheoesophageal fistula and cardiac malformations is an extremely rare condition. In this article we report a newborn infant with severe respiratory distress at birth who had both esophageal and laryngotracheal atresia with congenital cardiac malformations, in an attempt to bring attention to the clinical presentation, and emergent diagnostic and therapeutic approaches.     

Corrected Transposition of the Great Arteries with Isolated Aortic Coarctation: In Utero Echocardiographic Diagnosis

Physiologically corrected transposition of the great arteries (cTGA), defined by discordant atrioventricular and ventriculoarterial connections, is an uncommon congenital cardiac malformation. It rarely exists without associated cardiac anomalies, the most common of which are ventricular septal defect, pulmonary outflow obstruction, tricuspid valve (systemic) deformity, and rhythm disturbances. Conversely, hypoplasia of the systemic ventricle and systemic inflow or outflow obstructions have seldom been reported, although their recognition may significantly influence surgical repair and the patient's prognosis. We report a case of cTGA with complete heart block, moderate hypoplasia of the systemic ventricle, and severe aortic coarctation that was echocardiographically diagnosed in utero at 30 weeks' gestation because of fetal growth retardation and persistent fetal bradycardia. After delivery the patient underwent epimyocardial pacemaker implantation and aortic coarctation repair at 2 weeks of age. Unfortunately, the patient died on the seventh postoperative day because of systemic ventricular hypertrophy. Although it is well known that fetal echocardiography may reliably diagnose uncommon congenital cardiac malformations, to the best of our knowledge, this paper represents the first reported case of antenatal diagnosis of this complex anomaly.     

Delivery room emergencies in critical congenital heart diseases

Transition from fetal to postnatal life is a complex process. Even in the absence of congenital heart disease, about 4–10% of newborns require some form of assistance in the delivery room. Neonates with complex congenital heart disease should be expected to require significant intervention and thus the resuscitation team must be well prepared for such a delivery. Prenatal assessment including fetal and maternal health in general and detailed information on fetal heart structure, function and hemodynamics in particular are crucial for planning the delivery and resuscitation. In addition, understanding the impact of cardiac structural anomaly and associated altered blood flow on early postnatal transition is essential for success of resuscitation in the delivery room. In this article, we will briefly review transitional circulation focusing on altered hemodynamics of the complex congenital heart diseases and then discuss the process of preparing for these high-risk deliveries. Finally, we will review the pathophysiology resulting from the cardiac structural anomaly with resultant altered fetal circulation and discuss delivery room management of specific critical congenital heart diseases.     

Aberrant right subclavian artery with left aortic arch: Associated cardiac anomalies

Summary Anomalous origin of the right subclavian artery (ARSA) from the aorta distal to the normally positioned left subclavian artery is a relatively frequent congenital anomaly in subjects with left aortic arch. The purpose of this study was to determine the relative frequency of associated cardiovascular anomalies in individuals with this anomaly. From the records of approximately 11,000 pathologic specimens in the Registry of Cardiovascular Disease of United Hospital (St. Paul, MN, USA), we found 128 (1.2%) with ARSA.Of the 128 ARSA, 117 (2.9%) occurred among 4102 instances of congenital heart disease.The 117 cases with congenital heart disease and ARSA were conotruncal anomalies in 38%, septal defects in 28%, obstructive anomalies of the left side of the heart in 21%, right heart anomalies in 5%, and miscellaneous conditions in the other 8%. Down syndrome existed in 14 (12%) of the 117 specimens with ARSA and some congenital cardiac anomaly; nine of the latter had an atrioventricular canal (AVC) malformation.     

Abdominal coarctation and Alagille syndrome

Structural cardiac defects such as peripheral pulmonary stenosis are well-described in Alagille syndrome (AS), which is transmitted in an autosomal dominant inheritance. The genetic defect, with incomplete penetrance and variable expression, is localized to the short arm of chromosome 20. Abdominal coarctation is an uncommon congenital anomaly, with a spectrum of symptoms that may range from hypertension, intermittent claudication to abdominal pain. The association of abdominal coarctation with AS is rarely described. We report such a patient who also had aberrations of the visceral vascular supply involving the celiac, splenic, and superior mesenteric arteries. The indications to treat the coarctation, and in the context of a patient with AS, in whom liver transplantation may be contemplated at some stage, merit discussion.     

An uncommon echocardiographic marker for anomalous origin of the left coronary artery from the pulmonary artery: visualization of intercoronary collaterals within the ventricular septum

A rare and striking echocardiographic finding with color-flow Doppler—visualization of intercoronary collaterals within the ventricular septum—in an asymptomatic 5-year-old girl is reported. It strongly suggests anomalous origin of the left coronary artery from the pulmonary artery. Several additional echocardiographic features can secure the diagnosis and allow one to proceed with surgical correction without confirmatory cardiac catheterization and angiocardiography. The ages of our patient and of the seven cases reported previously suggest that these collaterals will more likely be identified beyond infancy and in relatively asymptomatic patients with this congenital anomaly.     

Ipsilateral hemangioma and aortic arch anomalies in posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta, and cardiac defects and eye abnormalities (PHACE) anomaly: report and review

Posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta, and cardiac defects and eye abnormalities (PHACE) is a rare congenital anomaly with a broad spectrum of clinical manifestations with a striking female predominance. We describe an infant with PHACE anomaly and aortic coarctation who underwent cardiac catheterization to clearly define the complex anatomy of the aortic lesion before surgical repair. Review of the literature documents a highly significant association between ipsilateral hemangiomas and cerebrovascular and aortic arch anomalies. We conclude that cardiac catheterization is required to define the complex anatomy of aortic lesions and should be performed in all patients with PHACE and evident aortic involvement to plan appropriate and safe surgical repair.     

Percutaneous Transcatheter Device Closure of an Isolated Congenital LV Diverticulum: First Case Report

A congenital left ventricular diverticulum is a rare cardiac malformation. It is a developmental anomaly that occurs during embryogenesis. Presentations vary from asymptomatic patients to sudden death. To date, the treatment described has been surgical correction. The authors report the first transcatheter closure of an isolated congenital left ventricular diverticulum in a 12-year-old symptomatic girl.     

Socioeconomic inequalities in risk of congenital anomaly.

AIMS: To investigate socioeconomic inequalities in the risk of congenital anomalies, focusing on risk of specific anomaly subgroups. METHODS: A total of 858 cases of congenital anomaly and 1764 non-malformed control births were collected between 1986 and 1993 from four UK congenital malformation registers, for the purposes of a European multicentre case control study on congenital anomaly risk near hazardous waste landfill sites. As a measure of socioeconomic status, cases and controls were given a value for the area level Carstairs deprivation index, by linking the postcode of residence at birth to census enumeration districts (areas of approximately 150 households). RESULTS: Risk of non-chromosomal anomalies increased with increasing socioeconomic deprivation. The risk in the most deprived quintile of the deprivation index was 40% higher than in the most affluent quintile. Some malformation subgroups also showed increasing risk with increasing deprivation: all cardiac defects, malformations of the cardiac septa, malformations of the digestive system, and multiple malformations. No evidence for socioeconomic variation was found for other non-chromosomal malformation groups, including neural tube defects and oral clefts. A decreasing risk with increasing deprivation found for all chromosomal malformations and Down's syndrome in unadjusted analyses, occurred mainly as a result of differences in the maternal age distribution between social classes. CONCLUSION: Our data, although based on limited numbers of cases and geographical coverage, suggest that more deprived populations have a higher risk of congenital anomalies of non-chromosomal origin and some specific anomalies. Larger studies are needed to confirm these findings and to explore their aetiological implications.     

Thanatophoric dysplasia with cloverleaf skull

Thanatophoric dysplasia with cloverleaf skull is a congenital anomaly characterized by a bizarre form of hydrocephalus and a uniformly fatal, shortlimbed chondrodysplasia. We report a case of associated cardiac anomalies, with a review of all previous known reports.     

Magnetic resonance imaging of a left circumflex aortic arch and aberrant right subclavian artery: the other vascular ring

We present a case of a rare congenital cardiac anomaly. Magnetic resonance imaging accurately demonstrated a left circumflex aortic arch. This finding was not apparent on a prior conventional angiogram or echocardiography. Magnetic resonance imaging documentation of this anomaly is uncommon. Review of the embryonic development, clinical presentation of complete and incomplete vascular rings, and additional associated cardiac anomalies are discussed. This is one of only a few reported cases of a left circumflex aortic arch. Received: 24 December 1996 Accepted: 15 October 1997     

A Quadricuspid Pulmonic Valve Diagnosed in a Live Newborn by Two-Dimensional Echocardiography

Quadricuspid pulmonic valve is a rare congenital anomaly which appears to occur in the absence of other cardiac or systemic anomalies. It predominates in males and tends to be clinically quiescent. The first case of quadricuspid pulmonic valve in a live newborn infant diagnosed by two-dimensional echocardiography is presented here with a review of the literature.