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Truncus arteriosus (TA) is a major congenital cardiac malformation that requires surgical repair in the first few weeks of life. Interrupted aortic arch (IAA) is an associated malformation that significantly impacts the complexity of the TA operation. The aim of this study was to (1) define the comorbid conditions associated with TA and (2) determine the hospital survival and morbidity of patients with TA with and without an IAA. Data was collected from the Vizient Clinical Database/Resource Manager, formerly University HealthSystem Consortium, which encompasses more than 160 academic medical centers in the United States. The database was queried for patients admitted from 2002 to 2016 who were ≤ 4 months of age at initial admission, diagnosed with TA, and underwent complete surgical repair during that hospitalization. Of the 645 patients with TA who underwent surgery, 98 (15%) had TA with an interrupted aortic arch (TA-IAA). Both TA and TA-IAA were associated with a high prevalence of comorbidities, including DiGeorge syndrome, prematurity, and other congenital malformations. There was no difference in mortality between TA and TA-IAA (13.7–18.4%, p value = 0.227). No comorbid conditions were associated with an increased mortality in either group. However, patients with TA-IAA had a longer post-operative length of stay (LOS) compared to those without IAA (30 versus 40.3 days, p value = 0.001) and this effect was additive with each additional comorbid condition. In conclusion, the addition of IAA to TA is associated with an increased post-operative LOS, but does not increase in-hospital mortality.

During cardiogenesis, the outflow tract undergoes a complicated morphogenesis, including the re-alignment of the great blood vessels, and the separation of aorta and pulmonary trunk. The deficiency of FGF8 in the morphogenesis of outflow tract has been well studied, however, the effect of over-dosed FGF8 on the development of outflow tract remains unknown. In this study, Rosa26R-Fgf8 knock-in allele was constitutively activated by Wnt1-cre transgene in the mouse neural crest cells presumptive for the endocardial cushion of outflow tract. Surprisingly, Wnt1-cre; Rosa26R-Fgf8 mouse embryos exhibited persistent truncus arteriosus and died prior to E15.5. The cardiac neural crest cells in Wnt1-cre; Rosa26R-Fgf8 truncus arteriosus did not degenerate as in WT controls, but proliferated into a thickened endocardial cushion and then, blocked the blood outflow from cardiac chambers into the lungs, which resulted in the embryonic lethality. Although the spiral aorticopulmonary septum failed to form, the differentiaion of the endothelium and smooth muscle in the Wnt1-cre; Rosa26R-Fgf8 truncus arteriosus were impacted little. However, lineage tracing assay showed that the neural crest derived cells aggregated in the cushion layer, but failed to differentiate into the endothelium of Wnt1-cre; Rosa26R-Fgf8 truncus arteriosus. Further investigation displayed the reduced p-Akt and p-Erk immunostaining, and the decreased Bmp2 and Bmp4 transcription in the endothelium of Wnt1-cre; Rosa26R-Fgf8 truncus arteriosus. Our findings suggested that Fgf8 over-expression in cardiac neural crest impaired the formation of aorticopulmonary septum by suppressing the endothelial differentiation and stimulating the proliferation of endocardial cushion cells, which implicated a novel etiology of persistent truncus arteriosus.

Although the clinical outcomes of truncus arteriosus (TA) repair have been improving, few data are available on long-term outcomes after truncus arteriosus repair in the current era. This study evaluated long-term outcome after repair of TA. Fifty-one patients underwent total correction from April 1982 to June 2018. Since 2003, perioperative strategy has changed to minimal priming volume, modified ultrafiltration, and early total repair (n = 26). Mortality and reoperation rates were analyzed before and after 2003. There were 8 hospital deaths after initial operation, all before 1997. During the mean follow-up of 9.8 years, there were 2 deaths. The Kaplan-Meier estimate of survival among all hospital survivors was 94.7% at 5 years and 88.0% at 20 years. A significant independent risk factor for early mortality was operation before 2003 (Hazard ratio (HR) 9.710, p = 0.041) and REV operation (HR 8.000, p = 0.028). Freedom from reoperation for conduit change and TV repair were 88.3% and 41% at 1 and 5 years, and 96.2% and 85.4% at 1 and 5 years, respectively. After 2003, younger age and conduit choice were risk factors for conduit-related reoperation. Initial preoperative TV regurgitation was independent risk factor for sequential TV repair. Patients with TA can undergo total repair of TA with excellent results, especially in current era. Most of the patients require conduit-related reoperations. Younger age and the methods of RVOT reconstruction were risk factors for conduit-related reoperations. TV repair is necessary in limited patients, and initial regurgitation was a risk factor.

Truncal valve management in patients with truncus arteriosus is a clinical challenge, and indications for truncal valve intervention have not been defined. We sought to evaluate truncal valve dysfunction and primary valve intervention in patients with truncus arteriosus and determine risk factors for later truncal valve intervention. We conducted a retrospective cohort study of children who underwent truncus arteriosus repair at 15 centers between 2009 and 2016. Multivariable competing risk analysis was performed to determine risk factors for later truncal valve intervention. We reviewed 252 patients. Forty-two patients (17%) underwent truncal valve intervention during their initial surgery. Postoperative extracorporeal support, CPR, and operative mortality for patients who underwent truncal valve interventions were statistically similar to the rest of the cohort. Truncal valve interventions were performed in 5 of 64 patients with mild insufficiency; 5 of 16 patients with mild-to-moderate insufficiency; 17 of 35 patients with moderate insufficiency; 5 of 9 patients with moderate-to-severe insufficiency; and all 10 patients with severe insufficiency. Twenty patients (8%) underwent later truncal valve intervention, five of whom had no truncal valve intervention during initial surgical repair. Multivariable analysis revealed truncal valve intervention during initial repair (HR 11.5; 95% CI 2.5, 53.2) and moderate or greater truncal insufficiency prior to initial repair (HR 4.0; 95% CI 1.1, 14.5) to be independently associated with later truncal valve intervention. In conclusion, in a multicenter cohort of children with truncus arteriosus, 17% had truncal valve intervention during initial surgical repair. For patients in whom variable truncal valve insufficiency is present and primary intervention was not performed, late interventions were uncommon. Conservative surgical approach to truncal valve management may be justifiable.

Background Patent ductus arteriosus (PDA) is one of most common congenital heart defects, it's a unique vascular structure that provides direct communication between pulmonary and systemic circulation. MDCT angiography is a good imaging modality for evaluation of the PDAs and detection of their exact morphological type; course and diameters, which is important before percutaneous closure or stenting procedure of the PDA, also for selection of closure hardware. The aim of this study was to assess the role of MDCT angiography in qualitative and quantitative evaluation of PDA and associated cardiac and\or extracardiac anomalies. Results Echocardiography detected PDA in 28\30 cases while cardiac MDCT detected PDA in all studied 30 cases confirmed by cardiac catheterization and/or operation. MDCT angiography had sensitivity 100% and specificity 100% for PDA detection. PDA originated from aortic isthmus in 15 cases, inferior surface of aortic arch in 11 cases and innominate artery in 4 cases. The most common morphological type of PDA was type A (cone\46.67%) followed by type C (tubular\23.3%), type D (complex\10%), type E (elongated\13.33%) and type B (window\6.67%). The spearman correlation coefficient test demonstrated poor correlation between size of aortic end and MPA (P = 0.75), and between size of pulmonary end and diameter of MPA (P = 0.99) and also demonstrated fair correlation between length of PDA and MPA (P = 0.018). PDA was isolated in 4\30 cases and associated with cardiac and\or extra cardiac anomalies in 26\30 cases included; ASD (n = 18), VSD (n = 16), pulmonary atresia (n = 7), transposition of great arteries (n = 5), teratology of Fallot (n = 4), aortic coarctation (n = 4), persistent truncus arteriosus (n = 3), tricuspid atresia (n = 3), anomalous of pulmonary venous return (n = 3), hypoplastic segment of aorta (n = 2), Ebstein's anomaly (n = 1), bicuspid aortic arch (n = 1) and left hypoplastic heart syndrome (n = 1). Conclusion Cardiac MDCT angiography was superior to Echocardiography in detection, quantitative and qualitative evaluation of PDA either isolated or associated with congenital cardiac and\or extracardiac anomalies and was superior to Echocardiography in detection of associated extracardiac anomalies rather than associated intra cardiac anomalies.

Objectives The aim of this study was to describe the profile of Congenital Heart Disease [CHD] and access to definitive surgical or catheter-based care among children attending a regional referral hospital in Northern Uganda. Methods This was a retrospective chart review of all children aged less than 17 years attending Gulu Regional Referral Hospital Cardiac clinic from November 2013 to July 2017. Results A total of 295 children were diagnosed with CHD during the study period. The median age at initial diagnosis was 12 months [IQR: 4–48]. Females comprised 59.3% [n = 175] of cases. Diagnosis in the neonatal period accounted for only 7.5 % [n = 22] of cases. The commonest CHD seen was ventricular septal defect [VSD] in 19.7 % [n = 58] of cases, followed by atrioventricular septal defect (AVSD) in 17.3 % [n = 51] and patent ductus arteriosus (PDA) in 15.9 % [n = 47]. The commonest cyanotic CHD seen was tetralogy of Fallot [TOF] in 5.1 % [n = 15], followed by double outlet right ventricle [DORV] in 4.1 % [n = 12] and truncus arteriosus in 3.4% [n = 10]. Dextro-transposition of the great arteries [D-TGA] was seen in 1.3 % [n = 4]. At initial evaluation, 76 % [n = 224] of all CHD cases needed definitive intervention and 14 % of these children [n = 32] had accessed surgical or catheter-based therapy within 2 years of diagnosis. Three quarters of the cases who had intervention [n = 24] had definitive care at the Uganda Heart Institute (UHI), including all 12 cases who underwent catheter-based interventions. No mortalities were reported in the immediate post-operative period and in the first annual follow up in all cases who had intervention. Conclusions There is delayed diagnosis of most rural Ugandan Children with CHD and access to definitive care is severely limited. The commonest CHD seen was VSD followed by AVSD. The majority of patients who had definitive surgery or transcatheter intervention received care in Uganda.

Background Banding of the bilateral branch pulmonary arteries (PA) has evolved as a palliative method to limit the pulmonary blood flow in various complex congenital heart diseases. Although beneficial in small patients and in those with multiple co-morbidities, the duration of pulmonary artery banding along with growth and status of branch pulmonary arteries following de-banding are of concern in these patients. Case presentation We present a case of truncus arteriosus with interrupted aortic arch in whom bilateral PA banding was done in neonatal life. The corrective surgery was delayed by 13 months due to multiple infections and underlying co-morbid conditions. Although the surgery was delayed, the branch pulmonary arteries were of adequate size following the debanding procedure. Conclusion Branch PA augmentation may not always be necessary even in delayed corrective surgery following bilateral PA banding.

Persistent truncus arteriosus (PTA) is a relatively uncommon congenital heart disease, accounting for approximately 0.7-1.4% of all congenital cardiac abnormalities worldwide. PTA is usually accompanied by a single semilunar valve, with leaflets ranging from one to six in number. However, absent semilunar valve (ASV) is rarely seen in PTA. Here, we report a case of prenatally diagnosed PTA accompanied by ASV (PTA-ASV) confirmed by postmortem autopsy.

Surgical experiences of the reoperative double ventricular outflow tract reconstruction long after the successful repair of conotruncal anomalies were reviewed. Ten adult patients with conotruncal anomalies (6 females, 22.9 ± 5.5 years old) underwent the reoperative double ventricular outflow tract reconstruction. Primary diagnosis was pulmonary atresia with ventricular septal defect in 6 patients, truncus arteriosus in 3, and double-outlet right ventricle in 1. The indication for the left ventricular outflow tract reconstruction was the left ventricular dilatation and dysfunction derived from moderate or greater systemic semilunar valve insufficiency. The indication for the right ventricular outflow tract reconstruction was severe pulmonary insufficiency in all patients, and concomitant right ventricular outflow tract obstruction in 7. The systemic semilunar valve replacement was performed in all patients. The right ventricular outflow tract patching was performed in 4 patients, and the revision of extra-cardiac conduit in 6. Within a mean follow-up of 9.0 ± 7.0 years, there was no mortality. The left ventricular end-diastolic volume index improved from 147 ± 37 to 108 ± 19 ml/m2 (p = 0.005), and the peak pressure gradient across right ventricular outflow tract improved from 43 ± 17 mmHg to 9 ± 2 at 1 year after (p = 0.02). The plasma brain natriuretic peptide level improved from 83 ± 57 to 34 ± 32 pg/ml (p = 0.03). Reoperative double ventricular outflow tract reconstruction long after the repair of conotruncal anomalies was safely performed, and provided the ventricular reverse remodeling and improvement of serum BNP level.

Background Neonatal diabetes is a rare form of monogenic diabetes with onset in the first six months of life occurring in 1/100,000 to 1/400,000 births. Both permanent and transient forms have been described. Permanent neonatal diabetes results predominantly from mutations in the KCNJ11 and ABCC8 genes. Less frequently, mutations of the GATA6 gene, located on chromosome 18 cause a form of permanent neonatal diabetes resulting from pancreatic hypoplasia or agenesis. Other anomalies associated with mutations of this gene have also been reported, most commonly congenital heart disease. Case presentation We report the case of a Caucasian male infant diagnosed shortly after birth with neonatal diabetes, truncus arteriosus type III, ventricular septal defect, atrial septal defect, an absent gallbladder and a right inguinal hernia. His diabetes resulted from a de novo mutation of the GATA6 gene resulting in pancreatic hypoplasia. At 20 months of age he developed protein losing enteropathy. This has not previously been associated with GATA6 mutations and it is not known if this association is causal. Conclusion The combination of neonatal diabetes and pancreatic agenesis/hypoplasia should alert the clinician to the possibility of a GATA6 gene abnormality. The association of protein losing enteropathy is unique to the reported case.

Introduction Patients with untreated Persistent Truncus Arteriosus (PTA) usually do not survive or develop irreversible pulmonary vascular obstructive disease beyond infancy. The present study reports the anatomic and hemodynamic data, and results of surgery in patients undergoing surgical repair of PTA beyond 1 year of age.

Lack of septation of the cardiac outflow tract (OFT) results in persistent truncus arteriosus (PTA), a form of congenital heart disease. The outflow myocardium expands through addition of cells originating from the pharyngeal mesoderm referred to as secondary/anterior heart field, whereas cardiac neural crest (CNC) cell-derived mesenchyme condenses to form an aortopulmonary septum. We show for the first time that a mutation in Wnt5a in mice leads to PTA. We provide evidence that Wnt5a is expressed in the pharyngeal mesoderm adjacent to CNC cells in both mouse and chicken embryos and in the myocardial cell layer of the conotruncus at the time when CNC cells begin to form the aortopulmonary septum in mice. Although expression domains of secondary heart field markers are not altered in Wnt5a mutant embryos, the expression of CNC cell marker PlexinA2 is significantly reduced. Stimulation of CNC cells with Wnt5a protein elicits Ca2+ transients, suggesting that CNC cells are capable of responding to Wnt5a. We propose a novel model in which Wnt5a produced in the OFT by cells originating from the pharyngeal mesoderm signals to adjacent CNC cells during formation of the aortopulmonary septum through a noncanonical pathway via localized intracellular increases in Ca2+.

We performed this study to determine the frequency of 22q11 deletions and associated phenotypic features and abnormalities in conotruncal heart defects. Sixty-one patients with conotruncal heart defects, including tetralogy of Fallot (TOF; n = 32), pulmonary atresia/ventricular septal defect (PAVSD; n = 12), double-outlet right ventricle (DORV; n = 5), transposition of the great arteries (TGA; n = 4 ), truncus arteriosus (TA; n = 4), subpulmonary ventricular septal defect (SPVSD; n = 3), and interrupted aortic arch (IAA; n = 1), were enrolled in this study and screened for 22q11 deletions by the fluorescence in situ hybridization technique. Phenotypic features and associated abnormalities, including submucosal cleft palate, abnormal facies, square nose, nasal voice, abnormal ears, long and slender fingers, delayed development, mental retardation, delayed growth, short stature, and hypocalcemia, were examined in these patients. Nine of 61 patients (14.8%) had 22q11 deletions, including 100% of IAA, 50% of TA, 33.3% of SPVSD, 33.3% of PAVSD, and 3.1% of TOF. Deletions were not detected in DORV and TGA. In all patients with 22q11 deletions, > or =1 phenotypic features or associated abnormalities were observed. A subgroup of patients with IAA, TA, SPVSD, and PAVSD associated with phenotypic features or abnormalities warrants evaluation for the presence of 22q11 deletions.

We present a case of congenital pulmonary systemic collateral vein associated with truncus arteriosus. Pulmonary systemic collateral vein with nonobstructed left atrial egress is different from those with obstructed left atrial egress in that it is functionally redundant. Including this case, 8 patients among 33 reported cases with pulmonary systemic collateral veins have had nonobstructed left atrial egress. Association with conotruncal anomalies in 4 of these 8 patients, as well as the reported finding that neural crest cells are distributed not only in the conotruncus but also in the cardinal vein, indicates that neural crest cells play roles in remodeling of the systemic venous system.

The association between truncus arteriosus and chromosome 22q11 deletion is well recognized, but the frequency of a chromosome 22q11 deletion has not been characterized in a large series of patients with truncus arteriosus, and little is known about cardiovascular morphologic features associated with a chromosome 22q11 deletion in this group of patients. We prospectively enrolled 50 consecutive patients with truncus arteriosus who were admitted to The Children's Hospital of Philadelphia between November 1991 and December 2001. Patients were studied for chromosome 22q11 deletion using fluorescence in situ hybridization. Correlations between anatomic features and chromosome 22q11 deletion were assessed. A chromosome 22q11 deletion was detected in 20 of the 50 patients (40%). Anatomic features that were significantly associated with a chromosome 22q11 deletion included a right-sided aortic arch, an abnormal aortic arch branching pattern, both abnormal sidedness and branching of the aortic arch, and the combined category of either abnormal sidedness or branching of the aortic arch. There was a trend toward the association of discontinuous pulmonary arteries with a chromosome 22q11 deletion. Interruption of the aortic arch and truncal valve morphology and function did not correlate significantly with the presence of a chromosome 22q11 deletion. In conclusion, a chromosome 22q11 deletion is common in patients with truncus arteriosus, and those with abnormal sidedness and/or branching of the aortic arch are significantly more likely to have a deletion. Clinically important anatomic variables, such as abnormalities of the truncal valve and interrupted aortic arch, were not associated with a chromosome 22q11 deletion in this series.

Uncorrected complex congenital cyanotic heart diseases in adults are rare today. Truncus arteriosus is one such rare condition in which only one vessel originates from the heart and from this common vessel, systemic, pulmonary, and coronary circulation originates. Uncorrected only 20 % survive first year of life. We report a case of total abdominal hysterectomy for fibroiduterus done in a patient with uncorrected truncus arteriosus-type 1V .

We report the prenatal diagnosis and the natural history of a fetus with truncus arteriosus. A 31-year-old woman, gravida 3, was referred for detailed examination for suspected cardiac anomaly during her 33rd week of gestation. Fetal echocardiography demonstrated a large truncal vessel overriding a ventricular septal defect, a right-side aortic arch, and a dilated ascending aortic arch. Pulsed-wave and color-flow Doppler imaging showed truncal valvular stenosis without insufficiency. No sign of congestive heart failure was detected during the prenatal period. A fetus weighing 2860 grams was delivered during the 38th week of gestation. Cyanosis was noted the day after delivery, however, and a Rastelli procedure was carried out 9 days after delivery. The baby died 7 days after the operation.

Ablation of the premigratory cardiac neural crest (CNC) from the chick embryo results in a malformed outflow tract vasculature termed persistent truncus arteriosus (PTA). In addition, loss of the CNC disrupts myocardial excitation–contraction (EC) coupling, decreases intracellular Ca2+ transients, and depresses force generation. We examined if similar defects occurred in the neural crest-derived smooth muscle of the aortic arch in a test of the hypothesis that loss of elements from the CNC disrupts EC coupling and force production in the smooth muscle of the tunica media of the aortic arch. Aortic arch segments from chicks (embryonic day 15) displaying PTA generated ~43% of stress generated by the aortic arch from sham-operated control embryos during potassium depolarization. The depressed force response was associated with a twofold lower Fura-2 transient. In contrast, force and steady-state Fura-2 signals during endothelin-1 stimulation were unchanged. The differences seen in stress generation with potassium depolarization between sham and PTA displaying embryos were not seen in the descending aorta, a tissue not derived from the neural crest. Protein content and immunostaining revealed no differences in the content of actin, myosin, or dihydropyridine receptor from sham or PTA aortic arch. Our results suggest that the CNC is required for normal aortic arch smooth muscle function and support the hypothesis that the loss of CNC impacts the force generating ability, in part by disruption of the EC-coupling processes and altering Ca2+-handling.

The protein EP300 and its paralog CREBBP (CREB-binding protein) are ubiquitously expressed transcriptional co-activators and histone acetyl transferases. The gene EP300 is essential for normal cardiac and neural development, whereas CREBBP is essential for neurulation, hematopoietic differentiation, angiogenesis and skeletal and cardiac development. Mutations in CREBBP cause Rubinstein-Taybi syndrome, which is characterized by mental retardation, skeletal abnormalities and congenital cardiac defects. The CBP/p300-interacting transactivator with ED-rich tail 2 (CITED2) binds EP300 and CREBBP with high affinity and regulates gene transcription. Here we show that Cited2-/- embryos die with cardiac malformations, adrenal agenesis, abnormal cranial ganglia and exencephaly. The cardiac defects include atrial and ventricular septal defects, overriding aorta, double-outlet right ventricle, persistent truncus arteriosus and right-sided aortic arches. We find increased apoptosis in the midbrain region and a marked reduction in ErbB3-expressing neural crest cells in mid-embryogenesis. We show that CITED2 interacts with and co-activates all isoforms of transcription factor AP-2 (TFAP2). Transactivation by TFAP2 isoforms is defective in Cited2-/- embryonic fibroblasts and is rescued by ectopically expressed CITED2. As certain Tfap2 isoforms are essential in neural crest, neural tube and cardiac development, we propose that abnormal embryogenesis in mice lacking Cited2 results, at least in part, from its role as a Tfap2 co-activator.

This report describes the extremely rare case of a 42-day-old boy with anomalous origin of a single coronary artery from the right branchiocephalic trunk associated with hypoplastic left ventricle, mitral atresia, truncus arteriosus, total anomalous pulmonary venous drainage, and patent foramen ovale.

Sirs: The aortopulmonary window (APW) is a rare congenital malformation and represents about 0.2% of congenital heart defects. The presence of two semilunar valves distinguishes this anomaly from persistent truncus arteriosus. It is associated with other cardiac defects in about 50% of the cases [1]. Most common associated defects are interrupted aortic arch or coarctation of the aorta, tetralogy of fallot, ventricular septal defect, and anomalies of the coronary artery [1]. Its variability in morphology is reflected by various classifications, previously reviewed by Jacobs et al. [3], resulting in a current standard nomenclature for APW. Proximal APW like in our case, also described as type I defect, is the most common type and characterized as an APW located few millimeters above the sinus of Valsalva [3]. To date few case reports exist about APW in combination with pulmonary stenosis or atresia and ventricular septal defect [5, 6]. However, to our knowledge our case is the first case of a patient with APW window supporting pulmonary flow in the setting of a critical pulmonary stenosis (PS) in combination with a hypoplastic right ventricle (RV).

A 3.5-month-old girl was diagnosed with type I truncus arteriosus and severe pulmonary hypertension. We performed palliative bilateral pulmonary artery banding (right and left circumferences, 14 and 12 mm, respectively). Corrective repair for truncus arteriosus was then performed at 10 months of age. The good postoperative course in this patient demonstrates that palliative bilateral pulmonary artery banding is a useful surgical option for truncus arteriosus associated with pulmonary hypertension.

We report a rare association of persistent truncus arteriosus with double aortic arch in a 34-day old neonate.

The occurrence of coexisting congenital diaphragmatic hernia (CDH) and esophageal atresia (EA) with distal tracheoesophageal fistula (TEF) is extremely rare and is considered highly lethal. The combination of CDH with EA/TEF and truncus arteriosus communis (TAC) has not been reported in the literature to date. The authors describe a premature neonate with this association.

Between July 1974 and October 1988 19 consecutive infants (mean age 2.7 months, range 5 days to 11.7 months) underwent surgical correction for persistent truncus arteriosus by one surgeon (J.L.M.). Continuity between the right ventricle and pulmonary arteries was achieved with an antibiotic-sterilized aortic homograft (diameter 13-18 mm) together with patch closure of the ventricular septal defect. There were 3 early postoperative deaths (16%): 1 patient had severe aortic regurgitation, the other 2 had preoperative cardiac arrests. Of the latter, 1 had suffered severe cerebral damage, and the other developed recurrent pulmonary hypertensive crises and low cardiac output. The 16 survivors have been followed for 3.1-17.3 years (mean 7.8 years). Four patients required subsequent replacement of the homograft for stenosis, aortic valve replacement for regurgitation, or both (3.0, 4.0, 8.5, and 12.0 years postoperatively). Of the 16 survivors, 15 are in NYHA class I. Of the 13 patients who have not had aortic valve surgery, 9 have no evidence of stenosis or regurgitation. In the 14 children with the original homograft the median of the residual peak gradient across the right ventricular outflow tract is 15 mmHg (range 10-40 mmHg), and no patient has severe homograft regurgitation at follow-up. Repair of persistent truncus arteriosus has been achieved with low early mortality and no late mortality, which reflects excellent long-term function of the homograft. Furthermore, if truncal valve function is good at presentation, patients are unlikely to require aortic valve surgery.

During a cadaver dissection in the anatomy department of the University of Liege, Belgium, an anatomic variation of the superior thyroid and lingual arteries was observed on the right side in a 68-year-old woman. Both arteries arose from a common trunk located 30 mm beneath the carotid bifurcation. After a 5.2 mm course, the thyrolingual trunk divided into superior thyroid and lingual arteries which followed an unusual course towards their respective organs. Knowledge of this anomaly is important for those who are involved with neck surgery and anatomy.

The association of truncus arteriosus with congenital left heart abnormalities is rare. We describe a case of truncus arteriosus associated with mitral atresia and a hypoplastic left ventricle. In 11 other patients diagnosed with truncus arteriosus, none had left heart hypoplasia. Despite the truncal root being primarily or entirely committed to the right ventricle, more right than left heart abnormalities have been found. This is in contrast to double-outlet right ventricle in which left heart abnormalities are more often associated.

We report the first observation of choroid plexus hyperdensity depicted by CT in two newborns with aortic arch obstruction. Neither infant had intracranial hemorrhage or infarction demonstrated by autopsy or cranial ultrasonography. Although not proven, we believe that such hyperdensity in these two cases represents abnormal vascularity within the choroid plexus related to upper extremity hypertension.

Homozygous mutants of the murine Splotch (Sp1H) and the Splotch-delayed (Spd) alleles show different phenotypes with respect to neural crest derivatives and their longevity. In this report, Sp1H/Sp1H, Spd/Spd and Sp1H/Spd mouse mutant embryos were examined histologically in serial sections on day 13.5 of gestation. All Spd/Spd and Sp1H/Spd embryos showed a similarly dramatic reduction of the muscle primordia in the limbs that had previously been observed in Sp1H homozygotes. The neural crest-derived spinal ganglia and Schwann cells showed major defects in Sp1H homozygotes and lesser defects in Spd homozygote, with Sp1H/Spd embryos being intermediary. Also, the neural crest-derived septum of the truncus arteriosus was formed in almost none of the Sp1H homozygotes, in roughly half of the Sp1H/Spd double heterozygotes and in all of the Spd homozygotes. Aortic conus malformations were observed in all mutants. The paternal origin of the Sp1H allele in the Sp1H/Spd embryos had no influence on the resulting phenotype. These observations demonstrate that the neural tube defect and the limb muscle defect are the common denominator of both the Splotch and the Splotch-delayed phenotype. The extent of the neural crest defects in the mutant compounds apparently depends on the Splotch alleles involved.

To the Editor, We read with interest the case report by Liu et al. regarding an extremely rare occurrence in the medical literature, the anomalous origin of a coronary artery from the right brachiocephalic trunk [1]. Two previous cases were cited in their report. During our research on truncus arteriosus with a single ventricle, we encountered an additional case to those already reported by Liu et al. In 1956 Cree reported a single coronary artery that arose from the innominate artery and divided into a right coronary artery, running down the atrioventricular groove to supply branches to the right atrium and anterior surface of the ventricle, and a left marginal artery, running down the left margin of the ventricle to the apex and supplying branches to the posterior surface of the ventricle, in a patient with single ventricle and truncus arteriosus [2]. With this case, there are now four case reports of this type of coronary artery origin abnormality in the medical literature.

The development of the cardio-pulmonary innervation was studied in whole-mount specimens of chick embryos stained with the anti-neurofilament protein (NFP) antibody. From the morphological point of view, vagal branches could be classified into two categories, i.e., the branchial branches primarily related to the pharyngeal arches, and intestinal arborization derivatives which are associated primarily with the primitive gut. The former consisted of the superior cardiac branch innervating the truncus arteriosus of the heart, and the latter, the sinal branch, pulmonary branches as well as recurrent nerve and the other intestinal branches. The superior cardiac branch at first develops as a pair of branchial branches which passes into the truncus arteriosus at stage 25, and later rotates along the aortic arch 6, thus making an asymmetrical configuration by stage 27. The sinal branch is a medial branch which first develops at stage 24. It arises from the junction of each intestinal arborization in close association with the pulmonary branch.

Inadequate nutritional support in infants with congenital heart disease recovering from heart surgery can impact on morbidity and growth. We sought to determine nutritional support and growth patterns for infants

Conotruncal and aortic arch anomalies represent a subclass of congenital heart disease which may share a common pathogenesis. Abnormalities of the cardiac neural crest have been implicated in these disorders, but identification of specific gene defects remains incomplete. dHAND and eHAND are two closely related basic helix-loop-helix (bHLH) transcription factors which are expressed at high levels in the developing conotruncus and aortic arches as well as other neural crest derived cell types. Mice null for the endothelin-1 (ET-1) peptide have a phenotype resembling DiGeorge syndrome with craniofacial, conotruncul, and aortic arch defects. Examination of the expression of dHAND and eHAND in the ET-1 null mice revealed that both genes were down-regulated in the pharyngeal arch which gives rise to craniofacial structures as well as in the truncus arteriosus and developing aortic arches. Cardiac muscle expression of the HAND genes was unaltered in the ET-1 null mice, suggesting that separable elements control the lateral mesodermal and neural crest components of expression of these genes. These data provide a genetic model for studying the potential interaction of multiple genes in the regulation of certain neural crest derived tissues including the cardiac outflow tract.

A study of 26 patients with truncus arteriosus showed a high prevalence of facial dysmorphism, aortic arch abnormalities, extracardiac malformations, and significant prenatal risk factors. There was little evidence of parathyroid or thymic abnormalities. However, there was laboratory evidence of immune deficiency, especially T-helper lymphocytes, and clinical evidence of predilection to infection. These findings suggest that patients with truncus arteriosus belong to the spectrum of the Di George syndrome.

Each coronary artery in humans develops, initially, from two anlagen, one distal and the other proximal. The distal anlage, which is forerunner of the subepicardial branches of the coronary arteries, develops as subepicardial vascular networks on the atrioventricular and interventricular sulci and on the walls of the ventricles and bulbus; these networks are the right-posterior and left-anterior ones. The proximal anlage, which is forerunner of the truncus of the right and left coronary arteries, develops as several endothelial buds of the truncus arteriosus. Normally, only two buds, right and left, hollow out, increase in length and connect with the right and the left vascular networks, respectively, so that the coronary arteries are formed. The cardiac veins appear together with the coronary arteries, but as independent vessels. The authors advance a number of hypotheses as to the origin of certain variations and malformations of the coronary arteries.

The Splotch mutant mouse shows defects in neural crest-derived cell populations. The septation of the truncus arteriosus and the development of the aortic arch-derived blood vessels was studied in homozygotes of the Splotch mutant allele Sp1H. It is shown that in homozygous mutant embryos, the septation of the truncus arteriosus does not proceed normally, resulting in persistent truncus arteriosus. The ostium of the persistent truncus arteriosus opens to the right ventricle. Frequently, variations of the aortic arch-derived blood vessels are observed. The development of the thymus, the parathyroid and the ultimobranchial bodies are also variably affected in mutants. These results provide indirect evidence, that cells contributing to the aortic arches and the septum of the truncus arteriosus in mice are derived from the neural crest. The Splotch mutant mouse is proposed to be an animal model for persistent truncus arteriosus. The implications of the vascular malformations for the midgestational death of this mutant are discussed.

This paper presents new results on studies on the Indian frogRana tigerina; these include, the presence of a vertical septum in the truncus arteriosus, a cardiac skeleton of cartilaginous nature, a systemic valve in the right systemic arch, and the recording of some events in the cardiac cycle with the help of pressure and electrocardiogram parameters.

Four cases of persistent truncus arteriosus (PTA) type 1 are presented where echocardiography was helpful in making the diagnosis. The diagnosis was later confirmed by cardiac catheterisation and angiocardiography.

In man, development of the cardiovascular system begins in embryos of about 3 weeks ovulation age and is essentially completed 3 weeks later. Cardiovascular development, therefore, takes place very early and proceeds rapidly. This is a major reason why the study of cardiovascular development is difficult. Events of major importance for the understanding of the processes which lead to cardiac septation and the formation of atrio-ventricular and arterial valves take place so quickly and are so elusive that we still don’t have a thorough understanding of what exactly happens. These uncertainties continue to fuel controversies concerning not only normal cardiovascular development but also the pathogenesis of congenital cardiac defects. Considerable progress, however, has been made in the past few decades [1–9] and the blanks in our knowledge and understanding of heart development are becoming fewer and smaller.

A girl with mental retardation and multiple anomalies was shown to have ade novo interstitial deletion of the long arm of chromosome 2(2q23.3→q24.2) by the use of high resolution banding technique. Review of the literature revealed that her clinical features resembled those of the previously reported cases with monosomy for the middle portion of 2q.

DiGeorge Syndrome (DGS) consists of the association of CHD, immunodeficiency, and hypoparathyroidism. Since recent data suggest that DGS is more common than usually appreciated, we prospectively tested immune function during the first 3 months of life in 22 infants referred for evaluation of CHD and 7 age-matched controls. CHD patients as a group had T-cell rosettes (TCR) lower (mean ± SE = 48% ± 5) than age-matched controls (64% ± 4) or older normals (71% ± 2). Eight of the 22 CHD infants had TCR below 2 standard deviations from the mean for age-matched controls (