Ebstein anomaly is a rare but serious cardiac defect, however, little is known about the etiology of this condition. The goal of this study was to expand our limited understanding of the epidemiology of Ebstein anomaly. Data for cases with Ebstein anomaly, as well as all live births, were obtained from the Texas Birth Defects Registry (TBDR) and Center for Health Statistics for the period 1999-2005. Descriptive analyses and estimates of birth prevalence and crude prevalence ratios were used to characterize this defect in Texas during the study period. There were 188 definite cases of Ebstein anomaly identified in the TBDR. The overall prevalence was 0.72 per 10,000 live births. Variables associated with an increased prevalence of non-syndromic Ebstein anomaly included: maternal age >39 years (compared to those 20-24 years), maternal residence along the Texas-Mexico border (compared to non-border residence), and conception in fall or winter (compared to summer). In addition, infants with Ebstein anomaly were at a greater risk of preterm birth and being small for gestational age. These findings help to define subgroups of women at increased risk of having offspring affected by Ebstein anomaly. Furthermore, our findings add to the limited body of literature on this rare but serious malformation.

A 4-year-old girl with Down syndrome exhibited an autosomal translocation t(2;18) in addition to trisomy 21. An evaluation of GTG-banded metaphases revealed the karyotype 47,XX,t(2;18),21 that was confirmed by using fluorescent in situ hybridization (FISH) probes. This case represents a very rare coincidence of an autosomal aneuploidy and a structural rearrangement. Her parents showed a normal chromosome complement. The translocation must have been an apparently "balanced" one as the proband presented with typical features of Down syndrome alone. The mechanism of origin of this rearrangement along with a nondisjunctional error and its significance are discussed.

A 4-year-old girl with Down syndrome exhibited an autosomal translocation t(2;18) in addition to trisomy 21. An evaluation of GTG-banded metaphases revealed the karyotype 47,XX,t(2;18),21 that was confirmed by using fluorescent in situ hybridization (FISH) probes. This case represents a very rare coincidence of an autosomal aneuploidy and a structural rearrangement. Her parents showed a normal chromosome complement. The translocation must have been an apparently "balanced" one as the proband presented with typical features of Down syndrome alone. The mechanism of origin of this rearrangement along with a nondisjunctional error and its significance are discussed.

Plastic bronchitis may be seen after palliative surgery for cyanotic heart disease. Although type II (acellular) casts are seen more commonly, we describe a type I cast after palliative surgery for cyanotic heart disease in which ligation of thoracic duct did not result in complete resolution.

Permanent pacemaker implantation in pediatric patients poses challenges in finding a suitable pocket for generator implantation. We present our experience with 6 patients in whom the pacemaker was placed in an extrapleural intrathoracic location. We find that an extrapleural intrathoracic pocket is a useful site for generator placement in the neonatal and pediatric age group. It is safe, reproducible, and both the lead and generator can be placed through a single incision. We briefly discuss the advantages and disadvantages of other techniques that require a single incision for both lead and generator placement.

We innovated a technique of arterial switch operation without coronary translocation in 1995, which avoids problems related to coronary artery translocation with good mid-term results. It is a better alternative for surgeons who are not well versed with coronary translocation of conventional arterial switch operation and with difficult coronary anatomy. This report deals with the mid-term results of our new technique.

OBJECTIVES Transposition of great arteries (TGA) with single coronary artery pattern is one of the high-risk groups for arterial switch operation (ASO). Any traction or kinking during coronary transfer can lead to a fatal outcome. With increase in experience, surgical results improved, but it did not completely eliminate the risks of coronary translocation. Many techniques have been described for transfer of single coronary and each one has its own merits and problems. We here in describe a new technique of in situ coronary reallocation during ASO for TGA with single coronary and also report the early and mid-term results with this new technique. METHODS From September 1988 to June 2002, five consecutive cases of TGA with single coronary artery were operated employing this new technique. Their age ranged from 16 days to 9 months. ASO was done by transecting the great arteries just above the commissures. For coronary reallocation, hockey stick-shaped incisions were made in the facing sinuses of the proximal aorta and the pulmonary artery. These flaps were sutured in such a way that the coronary ostium was committed to the neo-aorta with the rest of surgical procedure done in the usual manner. RESULTS All five patients had ASO. Additionally, four patients had closure of an associated ventricular septal defect and one patient had repair of the coarctation of the aorta. There was no in hospital mortality. All patients had follow-up echocardiograms at regular intervals, which showed no significant right or left ventricular outflow obstruction, no regional wall motion abnormalities and no neo-aortic or neo-pulmonary regurgitation. Three of five patients had cardiac catheterization and angiocardiography, which showed normal coronary arteries with no obstructive lesions and no neo-aortic regurgitation. Their follow up ranged from 5 to 50 months and there was no late mortality. CONCLUSIONS This new coronary reallocation technique avoids problems related to coronary translocation such as traction and kinking. It spares the need for dissection of proximal coronary artery and its branches, and thereby eliminates the risk of development of fibrosis and stenosis. The same technique can be used regardless of the sinus of origin of the coronary artery. It is a reliable and a reproducible technique. The early and mid-term results appear excellent in this series.

Between 1999 and 2002, 23 patients underwent single-stage complete repair of cardiac anomalies and aortic arch obstruction, without circulatory arrest. Median age was 1.2 years. Intracardiac defects included ventricular septal defect in 9, double-outlet right ventricle in 6, d-transposition of the great arteries and ventricular septal defect in 2, subaortic obstruction in 3, and atrial septal defect in 3. Fourteen patients had coarctation of the aorta, 6 had coarctation with hypoplastic aortic arch, and 3 had interrupted aortic arch. Simple techniques were employed such as cannulation of the ascending aorta near the innominate artery and maintaining cerebral and myocardial perfusion. After correction of arch obstruction, intracardiac repair was undertaken. The mean cardiopulmonary bypass time was 169 min, aortic crossclamp time was 51 min, and arch repair took 16 min. There was no operative mortality or neurological deficit. In follow-up of 1-43 months, no patient had residual coarctation. This simplified technique avoids additional procedures, reduces ischemic time, and prevents problems related to circulatory arrest.

We report a rare case of infective endocarditis caused by Corynebacterium diphtheriae in an 8-year-old boy, 2 years after a right ventricular outflow tract reconstruction with a bovine Contegra valved conduit. The patient recovered well after an RV-PA conduit enblock explantation and replacement with an aortic homograft with antibiotic treatment. All bacteriological cultures of excised tissue and blood were negative. The aetiological agent was identified as C. diphtheriae subsp. gravis by 16s rDNA sequencing.

Delleman syndrome (oculocerebrocutaneous syndrome, MIM 164180) is characterized by orbital cysts, microphthalmia/anophthalmia, focal skin defects, skin appendages and multiple cerebral malformations. We herein describe a case of an 8-month-old male child with features suggestive of Delleman syndrome along with a rare congenital lid anomaly - an accessory palpebral aperture, not reported so far to the best of our knowledge.

OBJECTIVE To characterize congenital heart defects in individuals with Down syndrome (DS) in the Western Region of Saudi Arabia, and compare with studies from other regions of Saudi Arabia and with international figures. METHODS We conducted a prospective study including all patients attending the DS clinic at King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia between October 2007 and October 2011. All patients underwent full history and physical evaluations, dysmorphologic assessment, chromosomal studies, and echocardiography. RESULTS A total of 130 individuals (59% males and 41% females) with ages ranging between 0-33 years (mean=5+/-4.9) were included. Most individuals (90.9%) had trisomy 21 due to non-disjunction, 5.05% due to Robertsonian translocation, and 4% had mosaicism. Congenital heart defects were found in 86.8% of patients. The majority 71/92 (77%) showed combined cardiac defects, while 21/92 (23%) of DS patients had isolated congenital heart defects (CHD). The most frequent CHDs detected in this study were: patent ductus arteriosis in 44/92 (47.8%), atrial septal defect in 38/92 (41.3%), trivial tricuspid regurge in 31/92 (33.7%), ventricular septal defect in 27/92 (29.3%), and patent foramen oval in 26/92 (28.3%). CONCLUSION We found a higher incidence of CHDs among DS individuals from the Western Region, compared to national and international figures. We detected more combined CHD and a different pattern of distribution.

To the best of our knowledge association of splenic rupture caused by blunt trauma in association with situs inversus has not been reported before. There is no report of emergency splenectomy for situs inversus before. We are reporting a case of splenic rupture caused by blunt trauma in association with situs inversus. Preoperative diagnosis of associated congenital heart defects and associated anatomical defects is necessary before operation.

OPINION STATEMENT: Ebstein anomaly (EA) is a rare congenital heart defect that may not be detected until late in adolescence or adulthood. Since the original description in a 19-year-old laborer with severe tricuspid valve (TV) regurgitation in 1866, our understanding of this rare condition has increased to the recognition that it is an abnormality not only of the TV, but also of the right ventricle (RV). EA is the result of failure of delamination of the TV leaflets from the interventricular septum, resulting in adherence of the leaflets to the underlying myocardium. This results in a wide variety of abnormalities, including apical and posterior displacement of the dilated TV annulus; dilation of the "atrialized" portion of the RV; and fenestrations, redundancy, and tethering of the anterior leaflet of the TV. The malformed TV is usually regurgitant, but may rarely be stenotic. The clinical manifestations of EA in the adult depend on several factors, including the extent of TV leaflet distortion, degree of tricuspid regurgitation (TR), right atrial pressure, and presence of a right-to-left atrial level shunt. Over the past several decades, advances in diagnostic imaging and surgical techniques have contributed to our current management of this challenging congenital heart defect.

To explore the role of CRELD1 variants on congenital heart defects, we sequenced the entire reading frame of CRELD1 in the samples from Kolkata and adjoining areas. Nearly, 400 participants were included in the genetic association study and they were stratified as Down syndrome (DS) with atrioventricular septal defect (AVSD), DS without AVSD, euploid with AVSD, and euploid without AVSD. A significant association was found between AVSD and three polymorphisms, namely rs9878047 (c.1049-129T > C), rs3774207 (c.1119C > T), and rs73118372 (c.1136T > C) among the Down syndrome and euploid individuals. The polymorphism rs73118372, involves a transition (c.1136T > C) that leads to change in amino acid methionine to threonine which alters protein secondary structure as confirmed by the bioinformatics software SOPMA. In addition, two haplotypes, C-T-C and C-T-T, in the order of loci rs9878047-rs3774207-rs73118372 were associated with incidence of AVSD among euploid and Down syndrome, with a slightly higher odds ratio in the later group. We hypothesize that these haplotypes increase the risk of AVSD, and the susceptibility is exacerbated in DS, possibly due to the trisomy 21 genetic background. Moreover, we report for the first time on an interaction between the mutant alleles of rs3774207 and rs73118372 which could disrupt the delicate balance between different CRELD1 isoforms. © 2012 Wiley Periodicals, Inc.

Ebstein's anomaly (EA) is a rare cardiac congenital malformation with displacement of septal and posterior tricuspid leaflets, resulting in atrialization of the right ventricle. We report a case of EA in which the etiology of a malfunctioning prosthetic tricuspid valve is depicted on cardiac computed tomography to be as a result of thrombus lodged in the valve.

ABSTRACT: INTRODUCTION: Thrombocytopenia with absent radii is a rare congenital defect with hypomegakaryocyticthrombocytopenia and bilateral radial aplasia that may have additional anomalies. We reportthe case of a girl baby with thrombocytopenia and absent radii syndrome and bilateralcongenital cataract. This anomaly has not been previously reported in the children of a nonconsanguineousmarriage. CASE PRESENTATION: This case report describes a two-day-old girl baby of Arab origin with thrombocytopenia andabsent radii syndrome and bilateral congenital cataract. CONCLUSIONS: This report describes a finding of bilateral congenital cataract associated withthrombocytopenia and absent radii syndrome that has been reported only once before in theliterature. This case report highlights a new ocular manifestation in one of the bone marrowfailure syndromes.

Worldwide, congenital heart defects (CHD) are the leading cause of infant deaths owing to congenital anomalies. Knowing the actual incidence of severe CHD is important for defining the requirement for resources and the burden of disease within the total population. Objectives.  The aim of the study is to estimate the incidence of severe CHD at the province of Al-Qassim as a reflection of that in the Kingdom of Saudi Arabia. Study Design.  A retrospective database review of all cases diagnosed to have severe CHD at Prince Sultan Cardiac Center-Qassim during a 3-year period from January 2008 to December 2010. Results.  During the study period, 316 patients were diagnosed to have severe CHD. During the 3-year study period, the total live birth at the province of Al-Qassim was 58 908. The incidence of severe CHD is 5.4/1000 live birth/year. Sixty-five percent of cases were diagnosed at less than 2 months of age, with a median age at diagnosis of 45 days (range of 1 day to 1 year). Ventricular septal defect was the most common lesion diagnosed (22.5%). Collectively, prostaglandin-dependent lesions constitute 38% of cases. Fifteen percent of patients were proved to have a syndrome. The most common syndrome was Down syndrome. Conclusion.  Severe CHD is a major health problem at the Kingdom of Saudi Arabia and worldwide. The incidence of severe CHD likely to require intervention in infancy, in the province of Al-Qassim, Saudi Arabia, is 5.4 per 1000 live births.

Asymmetrical form of conjoined twinning (heteropagus) is an extremely rare event with an incidence of 1-2 million live births. The incomplete component of heteropagus, namely, parasite, usually consists of rudimentary organs. Therefore, the autosite component of heteropagus can be separated successfully. A wide spectrum of associated congenital cardiac malformations, which are usually minor, has been described in autosites. However, a single-ventricle heart anomaly in the autosite has been reported in a very few cases. We report an unusual case of heteropagus with a complex cardiac malformation. To the best of our knowledge, this is the third heteropagus case in the literature with a single-ventricle heart in the autosite.

Trisomy 21, the chromosomal condition responsible for Down syndrome (DS, OMIM #190685), is the most common identifiable genetic cause of intellectual disability. Approximately half of all children with DS are born with a significant congenital heart defect (CHD), the most common of which is an atrioventricular septal defect (AVSD). As children with comorbid DS and CHD increasingly survive cardiac surgery, characterization of their early developmental trajectories is critical for designing early interventions to maximize individual potential. Herein, the developmental domains (cognitive, language, and motor) of children with DS and AVSD (DS + AVSD, n = 12) were compared to children with DS and a structurally normal heart (DS - CHD, n = 17) using the Bayley Scales of Infant and Toddler Development III. The DS + AVSD cohort mean age was relatively the same as controls with DS - CHD, 14.5 ± 7.3 months compared with 14.1 ± 8.4 months, respectively. Although the motor domain was the only domain that showed a statistically significant difference between groups (P < 0.05), both cognitive standard scores (P = 0.63) and language composite standard scores (P = 0.10) were lower in the DS + AVSD cases compared with the DS - CHD controls although it is not statistically significant. Since this is the first study to examine the early developmental outcomes of children with DS + AVSD, the findings may be useful for clinicians in providing anticipatory guidance.