Persistent Truncus Arteriosus Research Articles

Survivorship in Children and Young Adults With Congenital Heart Disease in Sweden

Mortality in patients with congenital heart disease (CHD) has markedly decreased during recent decades because of advancement in pediatric care. However, there are limited data on survival trends in children and young adults with CHD compared with the general population. To determine survivorship in children and young adults with CHD compared with matched controls. A registry-based, prospective, matched-cohort study was conducted in Sweden. Data from the national patient and cause of death registers were linked to identify individuals with CHD born between January 1, 1970, and December 31, 1993, who were registered at or after birth. Follow-up and comorbidity data were collected until December 31, 2011. Survival analyses were performed with the Cox proportional hazards model; these analyses were performed from January 1, 1970, to December 31, 2011. A total of 21 982 patients with CHD in Sweden were identified. The mean (SD) follow-up time was 27.0 (8.86) years. Children serving as controls (n = 219 816) (10 for each patient), matched for birth year, sex, and county, were randomly selected from the general population. Survivorship in young patients with CHD and controls. Of the 21 982 patients who were born between 1970 and 1993 and were registered with the diagnosis of CHD, 10 650 were female (48.4%). Median age at index registration was 4.22 years (interquartile range, 17.07 years). Survivorship among children younger than 5 years was increased from 96% in those born in 1970-1979 to 98% in those born in 1990-1993. Hazard ratios (HRs) of death in relation to that in control individuals decreased from 225.84 (95% CI, 136.84-372.70) to 33.47 (95% CI, 22.54-49.70). A substantial, but less pronounced, absolute and relative increase in survivorship was found in older patients (HRs ranged from 24.52; 95% CI, 11.72-51.26, at 5-9 years to 4.27; 95% CI, 2.29-7.95, at 18-29 years). According to a hierarchical CHD classification, the group of patients with the most severe complex defects (ie, common arterial trunk, transposition of the great vessels, double inlet ventricle, hypoplastic left heart syndrome, tetralogy of Fallot, and atrioventricular septal defect) had the highest risk for death (HR, 64.07; 95% CI, 53.39-76.89). Despite substantially increasing absolute and relative survivorship in children and young adults with CHD, the mortality risk remains high compared with the risk in matched controls. Further research on reducing the death rate in this vulnerable group is required.

Morphological variability of the arterial valve in common arterial trunk and the concept of normality

ObjectiveUntil now, no study established a morphometric evaluation of the truncal valve dysplasia and a description of its different presentation patterns. Thus, authors conducted an anatomopathological study describing the gross...

P20.03: Prenatal diagnosis value of echocardiographic in types and accompanied malformations of fetal persistent truncus arteriosus

P20.03: Prenatal diagnosis value of echocardiographic in types and accompanied malformations of fetal persistent truncus arteriosus

Complete Unbalanced Atrioventricular Septal Defect With a Common Arterial Trunk in an Uncontrolled Type 1 Diabetic Mother

When performed by a trained sonographer, fetal echocardiography can be instrumental in identifying cardiac pathology and abnormal cardiac physiology before a baby is born. Even though the diagnostic accuracy of a fetal echocardiogram can be limited by maternal body habitus, gestational age, and fetal position, sequential exams allow for detailed analysis of the cardiac structures. Early identification and diagnosis of intrauterine cardiac anomalies and subsequent pregnancy management and delivery planning are essential to providing the best possible outcome for fetuses born with heart defects. In this case study, we describe a rare combination of congenital heart defects diagnosed in an uncontrolled type 1 diabetic mother while in her second trimester of pregnancy.

Cardiac neural crest ablation results in early endocardial cushion and hemodynamic flow abnormalities.

Cardiac neural crest cell (CNCC) ablation creates congenital heart defects (CHDs) that resemble those observed in many syndromes with craniofacial and cardiac consequences. The loss of CNCCs causes a variety of great vessel defects, including persistent truncus arteriosus and double-outlet right ventricle. However, because of the lack of quantitative volumetric measurements, less severe defects, such as great vessel size changes and valve defects, have not been assessed. Also poorly understood is the role of abnormal cardiac function in the progression of CNCC-related CHDs. CNCC ablation was previously reported to cause abnormal cardiac function in early cardiogenesis, before the CNCCs arrive in the outflow region of the heart. However, the affected functional parameters and how they correlate with the structural abnormalities were not fully characterized. In this study, using a CNCC-ablated quail model, we contribute quantitative phenotyping of CNCC ablation-related CHDs and investigate abnormal early cardiac function, which potentially contributes to late-stage CHDs. Optical coherence tomography was used to assay early- and late-stage embryos and hearts. In CNCC-ablated embryos at four-chambered heart stages, great vessel diameter and left atrioventricular valve leaflet volumes are reduced. Earlier, at cardiac looping stages, CNCC-ablated embryos exhibit abnormally twisted bodies, abnormal blood flow waveforms, increased retrograde flow percentage, and abnormal cardiac cushions. The phenotypes observed in this CNCC-ablation model were also strikingly similar to those found in an established avian fetal alcohol syndrome model, supporting the contribution of CNCC dysfunction to the development of alcohol-induced CHDs.

Persistent truncus arteriosus on dual source CT.

Persistent truncus arteriosus is a rare congenital cardiac disease with variable presentation. The exact preoperative diagnosis and delineation of anatomy are very important because the optimal timing and procedure for truncus arteriosus repair are decided on the basis of the morphological characteristics. Moreover, the presence of associated anomalies influences the surgical outcome and mortality in these patients. Dual-source computed tomographic evaluation with three-dimensional post-processing is highly valuable for delineating its precise morphology and to identify and characterize the associated anomalies. Also depiction of the precise aortic arch morphology and simultaneous evaluation of the airway are very useful in treatment planning. This pictorial review provides an overview of the imaging spectrum of truncus arteriosus and various associated anomalies as seen on dual-source computed tomography.

Type 2 diabetes mellitus induces congenital heart defects in murine embryos by increasing oxidative stress, endoplasmic reticulum stress, and apoptosis

Maternal type 1 and 2 diabetes mellitus are strongly associated with high rates of severe structural birth defects, including congenital heart defects. Studies in type 1 diabetic embryopathy animal models have demonstrated that cellular stress-induced apoptosis mediates the teratogenicity of maternal diabetes leading to congenital heart defect formation. However, the mechanisms underlying maternal type 2 diabetes mellitus-induced congenital heart defects remain largely unknown. We aim to determine whether oxidative stress, endoplasmic reticulum stress, and excessive apoptosis are the intracellular molecular mechanisms underlying maternal type 2 diabetes mellitus-induced congenital heart defects. A mouse model of maternal type 2 diabetes mellitus was established by feeding female mice a high-fat diet (60% fat). After 15 weeks on the high-fat diet, the mice showed characteristics of maternal type 2 diabetes mellitus. Control dams were either fed a normal diet (10% fat) or the high-fat diet during pregnancy only. Female mice from the high-fat diet group and the 2 control groups were mated with male mice that were fed a normal diet. At E12.5, embryonic hearts were harvested to determine the levels of lipid peroxides and superoxide, endoplasmic reticulum stress markers, cleaved caspase 3 and 8, and apoptosis. E17.5 embryonic hearts were harvested for the detection of congenital heart defect formation using India ink vessel patterning and histological examination. Maternal type 2 diabetes mellitus significantly induced ventricular septal defects and persistent truncus arteriosus in the developing heart, along with increasing oxidative stress markers, including superoxide and lipid peroxidation; endoplasmic reticulum stress markers, including protein levels of phosphorylated-protein kinase RNA-like endoplasmic reticulum kinase, phosphorylated-IRE1α, phosphorylated-eIF2α, C/EBP homologous protein, and binding immunoglobulin protein; endoplasmic reticulum chaperone gene expression; and XBP1 messenger RNA splicing, as well as increased cleaved caspase 3 and 8 in embryonic hearts. Furthermore, maternal type 2 diabetes mellitus triggered excessive apoptosis in ventricular myocardium, endocardial cushion, and outflow tract of the embryonic heart. Similar to those observations in type 1 diabetic embryopathy, maternal type 2 diabetes mellitus causes heart defects in the developing embryo manifested with oxidative stress, endoplasmic reticulum stress, and excessive apoptosis in heart cells.

Rheumatic valvulopathies occurence, pattern and follow-up in rural area: the experience of the Shisong Hospital, Cameroon.

Rheumatic heart disease (RHD) remains a major public health problem in developing countries. Whereas Africa has 10% of the world's population, broadly as many as half of the 2.4 million children affected by RHD live on the continent. We report on the occurrence and pattern of valve involvement in RHD using echocardiography in our centre and post surgical follow-up. In this retrospective study, transthoracic echocardiography (TTE) data collected from the Shisong cardiac centre over a period of 24 months (August 2005 to August 2007) were reviewed. Patients with a precordial murmur were selected. A total of 262 echocardiographic examinations were done in the centre over the two-year study period. The screening allowed us to see two categories of patients: 169 (64.5%), 79 male and 90 female, out of the 262 patients with abnormal results had an echocardiographic diagnosis of RHD, 80 (30.5%) patients had congenital heart disease. The 13 (5%) patients left had innocent murmur. Mitral valve regurgitation was the commonest echocardiographic diagnosis present in 101 patients (59.7%). Thirty-six (13.7%) patients had mixed mitral valve disease, 40 (23.7%) had mixed aortic and mitral valve disease, 42 (25%) had pure mitral stenosis and 26 (15.3%) had pure aortic regurgitation. The complications of RHD being observed included secondary pulmonary hypertension in 20 patients (11.8%) and functional tricuspid regurgitation was seen in 39 (21.9%). The congenital heart disease were: tetralogy of Fallot 29.1%, isolated ventricular septal defect 62.5%, isolated atrial septal defect 3.2%, atrioventricular canal 1.1%, patent ductus arteriosus 2.2%, common arterial trunk 1.9%. Our data showed that in children above 10-years-old in rural zone of Cameroon presenting with a precordial murmur RHD has to be suspected. Acute rheumatic fever primary and secondary prevention as well as rheumatic fever registers are important for the disease eradication in our countries. More surgical centres for a better management of the RHD complications are needed in sub-Saharan Africa. Due to poverty and illiteracy of parents, the post surgical follow up of patients is challenging.

Ventricular Septal Defect with Overriding Great Artery, Differential Diagnosis, Case Presentation, and Review of Literature

Abstract Embryologically, conotruncal abnormalities result from abnormal development of the conotruncal septum expressing variably as double outlet right ventricle, tetralogy of Fallot, absent pulmonary valve syndrome, complete transposition, corrected transposition, and pulmonary atresia with ventricular septal defect (PA-VSD). It is not very uncommon to see a VSD with one single large artery overriding the defect, along with nonvisualization of the right ventricular outflow tract and ventricular origin of the Pulmonary artery. In situations with above findings and a near normal four chamber heart view the differential diagnosis include common arterial trunk (CAT), and pulmonary atresia with VSD and rare disorders like aortic atresia. CAT is characterized by a single great artery supplying the coronary, cranial and pulmonary circulation. Similar findings in PA-VSD may create confusion in prenatal diagnosis of these two conditions, more so in CAT type II/III. The diagnosis of CAT type I is comparatively easy as the pulmonary artery arises immediately beyond the origin of the trunk. This article discusses a case, the approach to and differential diagnosis of a single great artery overriding a VSD with a near normal four chamber view. The role of cardiac screening during the early morphology scan and the role of 4D imaging with color and power Doppler angiography are also highlighted for the correct diagnosis and description of spatial relationships of the vessels and chambers. Correct prenatal diagnosis of these conditions is important for patient counseling and prognostication.

The SWI/SNF BAF-A complex is essential for neural crest development

Growing evidence indicates that chromatin remodeler mutations underlie the pathogenesis of human neurocristopathies or disorders that affect neural crest cells (NCCs). However, causal relationships among chromatin remodeler subunit mutations and NCC defects remain poorly understood. Here we show that homozygous loss of ARID1A-containing, SWI/SNF chromatin remodeling complexes (BAF-A) in NCCs results in embryonic lethality in mice, with mutant embryos succumbing to heart defects. Strikingly, monoallelic loss of ARID1A in NCCs led to craniofacial defects in adult mice, including shortened snouts and low set ears, and these defects were more pronounced following homozygous loss of ARID1A, with the ventral cranial bones being greatly reduced in size. Early NCC specification and expression of the BRG1 NCC target gene, PLEXINA2, occurred normally in the absence of ARID1A. Nonetheless, mutant embryos displayed incomplete conotruncal septation of the cardiac outflow tract and defects in the posterior pharyngeal arteries, culminating in persistent truncus arteriosus and agenesis of the ductus arteriosus. Consistent with this, migrating cardiac NCCs underwent apoptosis within the circumpharyngeal ridge. Our data support the notion that multiple, distinct chromatin remodeling complexes govern genetically separable events in NCC development and highlight a potential pathogenic role for NCCs in the human BAF complex disorder, Coffin-Siris Syndrome.

Long-term Outcomes Following Surgical Repair of Persistent Truncus Arteriosus (PTA)

Long-term Outcomes Following Surgical Repair of Persistent Truncus Arteriosus (PTA)

Coronary stem development in wild-type and Tbx1 null mouse hearts.

Coronary artery (CA) stems connect the ventricular coronary tree with the aorta. Defects in proximal CA patterning are a cause of sudden cardiac death. In mice lacking Tbx1, common arterial trunk is associated with an abnormal trajectory of the proximal left CA. Here we investigate CA stem development in wild-type and Tbx1 null embryos. Genetic lineage tracing reveals that limited outgrowth of aortic endothelium contributes to proximal CA stems. Immunohistochemistry and fluorescent tracer injections identify a periarterial vascular plexus present at the onset of CA stem development. Transplantation experiments in avian embryos indicate that the periarterial plexus originates in mesenchyme distal to the outflow tract. Tbx1 is required for the patterning but not timing of CA stem development and a Tbx1 reporter allele is expressed in myocardium adjacent to the left but not right CA stem. This expression domain is maintained in Sema3c(-/-) hearts with a common arterial trunk and leftward positioned CA. Ectopic myocardial differentiation is observed on the left side of the Tbx1(-/-) common arterial trunk. A periarterial plexus bridges limited outgrowth of the aortic endothelium with the ventricular plexus during CA stem development. Molecular differences associated with left and right CA stems provide new insights into the etiology of CA patterning defects.

Congenital Heart Defects and Indices of Fetal Cerebral Growth in a Nationwide Cohort of 924 422 Liveborn Infants.

Neurodevelopmental disorders are the most common and distressful comorbidities associated with congenital heart defects (CHD). Head circumference at birth (HC), a proxy for prenatal cerebral growth, is an established risk factor for neurodevelopmental disorders. In a nationwide cohort, we included all 924 422 liveborn Danish singletons, 1997 to 2011. CHD was present in 5519. The association between CHD and growth indices was analyzed by multivariable linear regression, adjusted for potential confounders. We report mean differences in gestational age-specific z scores in comparison with the general population. CHD was associated with lower HC z scores, -0.10 (95% confidence interval [CI], -0.13 to -0.08). Several CHD subtypes were associated with smaller HC, eg, hypoplastic left heart syndrome, -0.39 (95% CI, -0.58 to -0.21); common arterial trunk, -0.41 (95% CI, -0.74 to -0.09); and major ventricular septal defects, -0.25 (95% CI, -0.35 to -0.15). Other single-ventricle defects, transposition of the great arteries, tetralogy of Fallot, and anomalous pulmonary venous return, were also associated with smaller HC. Transposition of the great arteries was associated with smaller HC relative to birth weight, -0.26 (95% CI, -0.39 to -0.13). Major ventricular septal defects were associated with larger HC relative to birth weight. The results were consistent under various conditions, eg, when siblings of infants with CHD (n=5311) or infants with other major malformations (n=24 974) were used as the reference. Several subtypes of CHD were associated with smaller HC. The associations with major ventricular septal defects, common arterial trunk, and anomalous pulmonary venous return have not previously been described. Only infants with transposition of the great arteries had smaller HC relative to birth weight.

Outcomes of Surgical Repair for Persistent Truncus Arteriosus from Neonates to Adults: A Single Center's Experience.

ObjectiveThis study aimed to report our experiences with surgical repair in patients of all ages with persistent truncus arteriosus.MethodsFrom July 2004 to July 2014, 50 consecutive patients with persistent truncus arteriosus who underwent anatomical repair were included in the retrospective review. Median follow-up time was 3.4 years (range, 3 months to 10 years).ResultsFifty patients underwent anatomical repair at a median age of 19.6 months (range, 20 days to 19.1 years). Thirty patients (60%) were older than one year. The preoperative pulmonary vascular resistance and mean pulmonary artery pressure were 4.1±2.1 (range, 0.1 to 8.9) units.m2 and 64.3±17.9 (range, 38 to 101) mmHg, respectively. Significant truncal valve regurgitation was presented in 14 (28%) patients. Hospital death occurred in 3 patients, two due to pulmonary hypertensive crisis and the other due to pneumonia. Three late deaths occurred at 3, 4 and 11 months after surgery. The actuarial survival rates were 87.7% and 87.7% at 1 year and 5 years, respectively. Multivariate analysis identified significant preoperative truncal valve regurgitation was a risk factor for overall mortality (odds ratio, 7.584; 95%CI: 1.335–43.092; p = 0.022). Two patients required reoperation of truncal valve replacement. One patient underwent reintervention for conduit replacement. Freedom from reoperation at 5 years was 92.9%. At latest examination, there was one patient with moderate-to-severe truncal valve regurgitation and four with moderate. Three patients had residual pulmonary artery hypertension. All survivors were in New York Heart Association class I-II.ConclusionsComplete repair of persistent truncus arteriosus can be achieved with a relatively low mortality and acceptable early- and mid-term results, even in cases with late presentation. Significant preoperative truncal valve regurgitation remains a risk factor for overall mortality. The long-term outcomes warrant further follow-up.

Study of transcription factors GATA-4, -5, -6 of mutation screening in Chinese children with congenital heart disease

Objective To understand the relationship between GATA-4, -5, -6 gene mutations and congenital heart disease(CHD), and to provide grounds for early prevention and genetic counseling of children with CHD. Methods GATA-4, -5, -6 coding regions exons and the flanking intron sequences in 198 CHD patients were screened, including 66 cases of the ventricular septal defects, 84 cases of the atrial septal defects, and 48 cases of the nonsyndromic conotruncal heart defects patients.A total of 300 healthy subjects were selected as controls.The acquired sequences were aligned with which those publicized in GenBank by the aid of program BLAST.All exons and bilateral partial intron-exon boundaries of GATA-4, -5, -6 genes were amplified by the polymerase chain reaction (PCR). The PCR products were purified and directly sequenced by automatic DNA sequence equipment.The acquired GATA-4, -5, -6 gene sequences were compared with GenBank standard gene sequences with the aid of program BLAST. Results A heterozygous missense mutation in the GATA-4 gene was identified in a ventricular septal defect patient and a persistent truncus arteriosus patient.The mutation was located in c. 799G>A(p.V267M)in exon 4 of GATA-4.Multiple aligenment of GATA-4 proteins across species demonstrated that altered amino acid was highly conserved.Transcription factor GATA-5, -6 screening showed no mutations in children with CHD in this study. Conclusions Transcription factor GATA-4 gene mutation may be associated with the occurrence of CHD.Transcription factor GATA-4 gene may be susceptible gene in human CHD. Key words: Transcription factor; GATA-4, -5, -6; Mutation; Congenital heart disease

Common arterial trunk and ventricular non-compaction in Lrp2 knockout mice indicate a crucial role of LRP2 in cardiac development.

ABSTRACTLipoprotein-related receptor protein 2 (LRP2) is important for development of the embryonic neural crest and brain in both mice and humans. Although a role in cardiovascular development can be expected, the hearts of Lrp2 knockout (KO) mice have not yet been investigated. We studied the cardiovascular development of Lrp2 KO mice between embryonic day 10.5 (E10.5) and E15.5, applying morphometry and immunohistochemistry, using antibodies against Tfap2α (neural crest cells), Nkx2.5 (second heart field), WT1 (epicardium derived cells), tropomyosin (myocardium) and LRP2. The Lrp2 KO mice display a range of severe cardiovascular abnormalities, including aortic arch anomalies, common arterial trunk (persistent truncus arteriosus) with coronary artery anomalies, ventricular septal defects, overriding of the tricuspid valve and marked thinning of the ventricular myocardium. Both the neural crest cells and second heart field, which are essential for the lengthening and growth of the right ventricular outflow tract, are abnormally positioned in the Lrp2 KO. This explains the absence of the aorto-pulmonary septum, which leads to common arterial trunk and ventricular septal defects. Severe blebbing of the epicardial cells covering the ventricles is seen. Epithelial-mesenchymal transition does occur; however, there are fewer WT1-positive epicardium-derived cells in the ventricular wall as compared to normal, coinciding with the myocardial thinning and deep intertrabecular spaces. LRP2 plays a crucial role in cardiovascular development in mice. This corroborates findings of cardiac anomalies in humans with LRP2 mutations. Future studies should reveal the underlying signaling mechanisms in which LRP2 is involved during cardiogenesis.

Repair of Truncus Arteriosus, Type 1 in Nigeria: A Case Report

Truncus arteriosus, also known as common arterial trunk is an unusual embryologic anomaly. It is characterized by incomplete conotuncal septation resulting in a common aortopulmonary trunk and ventricular septal defect. The first surgical repair was performed in 1962 when Behdtrendt et al. closed the VSD and used a valveless conduit to establish right ventricle-pulmonary artery continuity. Complete repair of this anomaly with a valved conduit was first reported in 1967 by McGoon et al. and remains the procedure of choice for these patients. National Cardiothoracic Center of Excellence was established in 1984. Since then it had carried out significant surgical management of simple CHD. Recently, with the aid of foreign medical missions, it was able to carry out a successful repair of truncus arteriosus type 1, the first of its kind in Nigeria.

A 50-year-old unrepaired patient with pulmonary atresia and ventricular septal defect

Pulmonary atresia with ventricular septal defect (PA + VSD) is a cyanotic congenital heart disease, also classified as Tetralogy of Fallot with pulmonary atresia. PA + VSD accounts for about 1–2% of congenital heart defects. The intracardiac anatomy is similar to tetralogy of Fallot but there is no direct communication between the right ventricle and pulmonary arteries. Major problems with surgical treatment are related to complexity of the pulmonary vascular bed. We report a case of a 50-year-old woman with congenital heart disease who was admitted to our Centre in July 2012. Congenital heart disease was first diagnosed at the age of 28 and at that time it was classified as a pulmonary valve atresia with ventricular septal defect with right-to-left shunt and common arterial trunk. Diagnostics performed in our Centre confirmed complicated anatomy of vessels in the chest, especially narrow and hypoplastic major aortopulmonary collateral arteries arising from descending aorta and left subclavian artery. The congenital heart disease was reclassified as a pulmonary atresia with ventricular septal defect. JRCD 2016; 2 (8): 270–274

Echocardiographic evaluation of coronary arteries in congenital heart disease.

Among populations of patients with the congenital heart disease, there is considerable diversity in the anatomy of the coronary arteries. Understanding these anatomical differences is vitally important in directing interventions and surgical repair. In this report, the authors describe the echocardiographic evaluation of the variants of coronary artery anatomy in the following lesions: transposition of the great arteries, congenitally corrected transposition of the great arteries, double-inlet left ventricle, common arterial trunk, tetralogy of Fallot, and double-outlet right ventricle.

Assessment of cardiac angle in fetuses with congenital heart disease at risk of 22q11.2 deletion.

To evaluate fetal cardiac angle as a screening tool for 22q11.2 deletion among cases with cardiac anomalies known to be associated with this genetic condition, to examine the correlation of fetal cardiac angle with thymic-thoracic (TT)-ratio, and to assess the performance of TT ratio as a covariate in screening for 22q11.2 deletion. This was a retrospective cohort study that reviewed the records of 74 cases with cardiac anomalies known to be associated with 22q11.2 deletion (tetralogy of Fallot, common arterial trunk, interrupted aortic arch and right aortic arch) that were diagnosed between 2007 and 2013. The karyotype was known in all cases. The fetal cardiac angle and TT-ratio were measured using stored three-dimensional spatiotemporal image correlation volume datasets and compared in those with del.22q11.2 and those without. Of the 74 cases reviewed, 16 had 22q11.2 deletion. The mean cardiac angle was larger in the cases with 22q11.2 deletion than in those without (68.6° vs 58.7°, respectively; P = 0.02). Multivariate regression analysis showed an association between cardiac angle and TT-ratio in fetuses with 22q11.2 deletion (r(2) = 0.33; P = 0.02) but not in those with a normal karyotype (P = 0.4). Logistic regression analysis demonstrated that fetal cardiac angle, but not TT-ratio, is an independent predictor of 22q11.2 deletion among fetuses with 22q11.2 deletion-associated cardiac anomalies (P = 0.02; area under the receiver-operating characteristics curve = 0.69). An enlarged fetal cardiac angle is an independent predictor of 22q11.2 deletion among fetuses with 22q11.2 deletion-associated cardiac anomalies. However, its performance as a single variable in a screening model is not sufficient to guide management decisions regarding invasive testing.