Evaluation of an unconditional cash transfer program targeting children's first-1,000-days linear growth in rural Togo: A cluster-randomized controlled trial.

BACKGROUND: In 2014, the government of Togo implemented a pilot unconditional cash transfer (UCT) program in rural villages that aimed at improving children's nutrition, health, and protection. It combined monthly UCTs (approximately US$8.40 /month) with a package of community activities (including behavior change communication [BCC] sessions, home visits, and integrated community case management of childhood illnesses and acute malnutrition [ICCM-Nut]) delivered to mother-child pairs during the first "1,000 days" of life. We primarily investigated program impact at population level on children's height-for-age z-scores (HAZs) and secondarily on stunting (HAZ < -2) and intermediary outcomes including household's food insecurity, mother-child pairs' diet and health, delivery in a health facility and low birth weight (LBW), women's knowledge, and physical intimate partner violence (IPV). METHODS AND FINDINGS: We implemented a parallel-cluster-randomized controlled trial, in which 162 villages were randomized into either an intervention arm (UCTs + package of community activities, n = 82) or a control arm (package of community activities only, n = 80). Two different representative samples of children aged 6-29 months and their mothers were surveyed in each arm, one before the intervention in 2014 (control: n = 1,301, intervention: n = 1,357), the other 2 years afterwards in 2016 (control: n = 996, intervention: n = 1,035). Difference-in-differences (DD) estimates of impact were calculated, adjusting for clustering. Children's average age was 17.4 (± 0.24 SE) months in the control arm and 17.6 (± 0.19 SE) months in the intervention arm at baseline. UCTs had a protective effect on HAZ (DD = +0.25 z-scores, 95% confidence interval [CI]: 0.01-0.50, p = 0.039), which deteriorated in the control arm while remaining stable in the intervention arm, but had no impact on stunting (DD = -6.2 percentage points [pp], relative odds ratio [ROR]: 0.74, 95% CI: 0.51-1.06, p = 0.097). UCTs positively impacted both mothers' and children's (18-23 months) consumption of animal source foods (ASFs) (respectively, DD = +4.5 pp, ROR: 2.24, 95% CI: 1.09-4.61, p = 0.029 and DD = +9.1 pp, ROR: 2.65, 95% CI: 1.01-6.98, p = 0.048) and household food insecurity (DD = -10.7 pp, ROR: 0.63, 95% CI: 0.43-0.91, p = 0.016). UCTs did not impact on reported child morbidity 2 week's prior to report (DD = -3.5 pp, ROR: 0.80, 95% CI: 0.56-1.14, p = 0.214) but reduced the financial barrier to seeking healthcare for sick children (DD = -26.4 pp, ROR: 0.23, 95% CI: 0.08-0.66, p = 0.006). Women who received cash had higher odds of delivering in a health facility (DD = +10.6 pp, ROR: 1.53, 95% CI: 1.10-2.13, p = 0.012) and lower odds of giving birth to babies with birth weights (BWs) <2,500 g (DD = -11.8, ROR: 0.29, 95% CI: 0.10-0.82, p = 0.020). Positive effects were also found on women's knowledge (DD = +14.8, ROR: 1.86, 95% CI: 1.32-2.62, p < 0.001) and physical IPV (DD = -7.9 pp, ROR: 0.60, 95% CI: 0.36-0.99, p = 0.048). Study limitations included the short evaluation period (24 months) and the low coverage of UCTs, which might have reduced the program's impact. CONCLUSIONS: UCTs targeting the first "1,000 days" had a protective effect on child's linear growth in rural areas of Togo. Their simultaneous positive effects on various immediate, underlying, and basic causes of malnutrition certainly contributed to this ultimate impact. The positive impacts observed on pregnancy- and birth-related outcomes call for further attention to the conception period in nutrition-sensitive programs. TRIAL REGISTRATION: ISRCTN Registry ISRCTN83330970.

Empagliflozin Increases Cardiac Energy Production in Diabetes: Novel Translational Insights Into the Heart Failure Benefits of SGLT2 Inhibitors.

SGLT2 inhibitors have profound benefits on reducing heart failure and cardiovascular mortality in individuals with type 2 diabetes, although the mechanism(s) of this benefit remain poorly understood. Because changes in cardiac bioenergetics play a critical role in the pathophysiology of heart failure, the authors evaluated cardiac energy production and substrate use in diabetic mice treated with the SGTL2 inhibitor, empagliflozin. Empagliflozin treatment of diabetic db/db mice prevented the development of cardiac failure. Glycolysis, and the oxidation of glucose, fatty acids and ketones were measured in the isolated working heart perfused with 5 mmol/l glucose, 0.8 mmol/l palmitate, 0.5 mmol/l ß-hydroxybutyrate (ßOHB), and 500 µU/ml insulin. In vehicle-treated db/db mice, cardiac glucose oxidation rates were decreased by 61%, compared with control mice, but only by 43% in empagliflozin-treated diabetic mice. Interestingly, cardiac ketone oxidation rates in db/db mice decreased to 45% of the rates seen in control mice, whereas a similar decrease (43%) was seen in empagliflozin-treated db/db mice. Overall cardiac adenosine triphosphate (ATP) production rates decreased by 36% in db/db vehicle-treated hearts compared with control mice, with fatty acid oxidation providing 42%, glucose oxidation 26%, ketone oxidation 10%, and glycolysis 22% of ATP production in db/db mouse hearts. In empagliflozin-treated db/db mice, cardiac ATP production rates increased by 31% compared with db/db vehicle-treated mice, primarily due to a 61% increase in the contribution of glucose oxidation to energy production. Cardiac efficiency (cardiac work/O2 consumed) decreased by 28% in db/db vehicle-treated hearts, compared with control hearts, and empagliflozin did not increase cardiac efficiency per se. Because ketone oxidation was impaired in db/db mouse hearts, the authors determined whether this contributed to the decrease in cardiac efficiency seen in the db/db mouse hearts. Addition of 600 µmol/l ßOHB to db/db mouse hearts perfused with 5 mmol/l glucose, 0.8 mmol/l palmitate, and 100 µU/ml insulin increased ketone oxidation rates, but did not decrease either glucose oxidation or fatty acid oxidation rates. The presence of ketones did not increase cardiac efficiency, but did increase ATP production rates, due to the additional contribution of ketone oxidation to energy production. The authors conclude that empagliflozin treatment is associated with an increase in ATP production, resulting in an enhanced energy status of the heart.

Hypoplastic Left Heart Syndrome Is Not a Predictor of Worse Intermediate Mortality Post Fontan.

BACKGROUND: An increasing proportion of those living with single ventricle physiology have hypoplastic left heart syndrome (HLHS). Our objective was to assess the association between HLHS and outcomes post Fontan operation. METHODS: All pediatric patients who underwent a Fontan procedure at the University of Alberta between 1996 and 2016 were included. Follow-up clinical data collected included early and late surgical or catheter reintervention, echocardiography, and long-term transplant-free survival. Characteristics were compared between those with and without HLHS, and the association between outcomes and HLHS were assessed. RESULTS: A total of 320 children (median age 3.3 years, interquartile range 2.8 to 3.9 years; 121 [43.4%] female) underwent a Fontan procedure over the course of the study. Nearly one third of subjects had HLHS (107, 33.4%). Patients with HLHS were more likely to have abnormal ventricular function (19.6% versus 7.0%, p = 0.003) and worse than mild atrioventricular valve (AVV) regurgitation (23.4 versus 9.2%, p = 0.001) preoperatively. HLHS was not predictive of in-hospital Fontan failure (odds ratio 0.82, 95% CI 0.28, 2.39), late reintervention (hazard ratio [HR] 1.08, 95% CI 0.66, 1.76), or transplant-free survival (HR 1.58, 95% CI 0.72, 3.44). Subjects with HLHS were more likely to have more than mild AVV regurgitation (31.6% versus 13.3%, p = 0.028) and abnormal ventricular function (29.8% versus 10.7%, p < 0.0001) at late follow-up. CONCLUSIONS: Patients with HLHS who survive to the Fontan procedure do no worse with the operation than those with other anatomy. Given worse late ventricular function and AVV regurgitation, equivalent survival may not persist throughout a patient's life course.

Post-operative Outcomes in Children Undergoing Fontan Palliation in a Regionalized Surgical System.

Evidence suggests that outcomes in pediatric cardiac surgery are improved by consolidating care into centers of excellence. Our objective was to determine if outcomes are equivalent in patients across a large regional referral base, or if patients from centers without on-site surgery are at a disadvantage. Since 1996, all pediatric cardiac surgery has been offered at one of two centers within the region assessed, with the majority being performed at Stollery Children's Hospital. All patients who underwent a Fontan between 1996 and 2016 were included. Follow-up data including length of stay (LOS), repeat surgical interventions, and transplant-free survival were acquired for each patient. The association between post-operative outcomes and home center was assessed using Kaplan-Meier survival analysis and Cox proportional Hazards models. 320 children (median age 3.3 years, IQR 2.8-4.0) were included; 120 (37.5%) had the surgical center as their home center. Cardiac anatomy was hypoplastic left heart syndrome in 107 (33.4%) subjects. Median LOS was 11 days (IQR, 8-17), and there were 8 in-hospital deaths. There were 17 deaths and 11 transplants over the course of follow-up. Five-year transplant-free survival was 92.5%. There was no difference in hospital re-intervention, late re-intervention, or survival by referral center (all p > 0.05). In multivariable analysis, home center was not predictive of either LOS (R 2 = -0.40, p = 0.87) or transplant-free survival (1.52, 95%CI 0.66, 3.54). In children with complex congenital heart disease, a regionalized surgical care model achieves good outcomes, which do not differ according to a patient's home base.

Folic acid fortification and the birth prevalence of congenital heart defect cases in Alberta, Canada.

BACKGROUND: Congenital heart defects (CHDs) are the most common type of congenital anomaly. The precise etiology is unknown and the development of successful primary prevention strategies is challenging. Folic acid may have a protective role; however published results have been inconsistent. This study examines the impact of mandatory folic acid fortification (FAF) on the prevalence of CHDs. METHODS: CHD cases were ascertained using the Alberta Congenital Anomalies Surveillance System, Pediatric Cardiology Clinics, Pathology, and hospital records. The birth prevalence and odds ratios (OR) of isolated CHD cases (i.e., without noncardiac anomalies) were calculated comparing pre-FAF (1995-1997) with post-FAF (1999-2002). RESULTS: The prevalence of isolated CHD cases remained relatively unchanged when pre-FAF (9.34, 95% confidence interval [CI] 8.79-9.92) was compared with post-FAF (9.41, 95% CI, 8.93-9.91). Left ventricular outflow tract obstruction (LVOTO) decreased post-FAF (OR, 0.76; 95% CI, 0.61-0.94). Coarctation of the aorta contributed to this decline (OR, 0.55; 95% CI, 0.32-0.92). Atrial septal defect (ASD) (OR, 1.42; 95% CI, 1.13-1.80) and ASD with ventricular septal defect (OR, 1.52; 95% CI, 1.10-2.10) increased post-FAF. The remaining types of CHDs were unchanged. CONCLUSION: FAF alone does not have an impact on the prevalence of CHDs as a group and the majority of selected types of CHDs in Alberta. The decrease in LVOTO, particularly coarctation of the aorta, may be due to FAF or other environmental factors. The increase in ASD and ASD with ventricular septal defect may reflect an increase in diagnosis and ascertainment.

Congenital heart defects and major structural noncardiac anomalies in Alberta, Canada, 1995-2002.

BACKGROUND: Although the majority of congenital heart defects (CHDs) occur in isolation, a significant number occur with noncardiac anomalies. This study determined the proportion of noncardiac anomalies among CHD cases in Alberta. METHODS: Records of infants and children born in Alberta between January 1, 1995, to December 31, 2002, were searched using multiple sources of ascertainment in addition to the Alberta Congenital Anomalies Surveillance System (ACASS) (Alberta Health and Wellness, 2012). Each case was assigned to one CHD category and was further categorized into one of the following groups: isolated CHD, syndromes, chromosomal, associations and sequences, teratogens, Mendelian, neoplasia, heterotaxy, multiple minor anomalies, and multiple major anomalies. RESULTS: Of all 3751 CHD cases (prevalence 12.42/1000 total births: confidence interval, 12.03-12.83), 75% were isolated, 10% had a chromosomal etiology, and 9% had multiple major anomalies. All other categories accounted for <2% each. The most commonly associated major noncardiac anomalies were musculoskeletal (MSK) (24%) followed by anomalies of the urinary tract (14%), gastrointestinal system (GI) (11%), and central nervous system (CNS) (11%). CONCLUSIONS: This is both a population-based and clinical study using a classification scheme that could help to determine possible etiologic factors contributing to CHD. By eliminating known etiologies such as chromosomal and single gene, future studies can focus on the remainder to evaluate possible preventive measures. The most commonly associated major noncardiac anomalies involve the MSK system, followed by the urinary, GI, and CNS systems.

Congenital heart defect case ascertainment by the Alberta Congenital Anomalies Surveillance System.

BACKGROUND: Congenital heart defects (CHDs) are the most common type of congenital anomaly, with a wide range of reported birth prevalence estimates. This quality assurance study describes CHD case ascertainment by the Alberta Congenital Anomalies Surveillance System (ACASS). METHODS: ACASS data for CHD cases were compared with additional sources including the two Pediatric Cardiology clinics in Alberta, the Alberta Children's Hospital Department of Pathology, and hospital records. Cases included live births, stillbirths, and fetal deaths at less than 20 weeks' gestation born in Alberta, Canada, between 1995 and 2002. The birth prevalence of cases and chi-square linear trend analyses were calculated for specific types of heart defects for the total study period. RESULTS: The ascertainment of CHD cases by ACASS was 45%. The total prevalence of CHD cases was 5.59 per 1000 total births (TBs; 95% confidence interval [CI], 5.32-5.86) when ACASS was the only data source and increased to 12.42 per 1000 TBs (95% CI, 12.03-12.83) when all data sources were used. Although the total prevalence of CHD cases remained stable during 1995 to 2002, the prevalence of atrial septal defect (ASD) and cases with an ASD and ventricular septal defect (VSD) significantly increased. The prevalence of left ventricular outflow tract obstruction cases significantly decreased during the study period. CONCLUSIONS: Pediatric cardiology clinics are worth including as additional ascertainment sources to contribute to more accurate prevalence estimates. The significant increases of ASD and cases with both an ASD and VSD may reflect differences in diagnostic and ascertainment practices.

The registry and follow-up of complex pediatric therapies program of Western Canada: a mechanism for service, audit, and research after life-saving therapies for young children.

Newly emerging health technologies are being developed to care for children with complex cardiac defects. Neurodevelopmental and childhood school-related outcomes are of great interest to parents of children receiving this care, care providers, and healthcare administrators. Since the 1970s, neonatal follow-up clinics have provided service, audit, and research for preterm infants as care for these at-risk children evolved. We have chosen to present for this issue the mechanism for longitudinal follow-up of survivors that we have developed for western Canada patterned after neonatal follow-up. Our program provides registration for young children receiving complex cardiac surgery, heart transplantation, ventricular assist device support, and extracorporeal life support among others. The program includes multidisciplinary assessments with appropriate neurodevelopmental intervention, active quality improvement evaluations, and outcomes research. Through this mechanism, consistently high (96%) follow-up over two years is maintained.

Two-dimensional versus transthoracic real-time three-dimensional echocardiography in the evaluation of the mechanisms and sites of atrioventricular valve regurgitation in a congenital heart disease population.

BACKGROUND: Data are lacking on the utility of real-time three-dimensional (3D) echocardiography (RT3DE) in congenital abnormalities of the atrioventricular (AV) valves. The purpose of this study was to determine whether transthoracic RT3DE is superior to combined transthoracic echocardiography and two-dimensional (2D) transesophageal echocardiography in determining mechanisms and sites of AV valve regurgitation in congenital heart disease. METHODS: Between January 2005 and November 2007, 48 consecutive patients were studied prior to AV valve repair (22 left AV valves and 26 tricuspid valves) using 2D transthoracic echocardiography, 2D transesophageal echocardiography, and transthoracic RT3DE. Ages ranged from 24 days to 30 years. The 2D data were reviewed by blinded observers, and the real-time 3D data by a separate observer. In all patients, surgical findings were documented by a surgical report, while in 40, video recordings were also available. Surgical findings were used as the reference standard for structural abnormalities; RT3DE was the reference standard for the site of AV valve regurgitation. RESULTS: Compared with 2D echocardiography, RT3DE provided superior detail of the mural leaflet and anterior commissural abnormalities for the left AV valve. For the tricuspid valve, improved detection of leaflet abnormalities, prolapse of the anterior and posterior leaflets, and commissural pathology was observed by RT3DE. Apart from a central location, surgical saline testing correlated poorly with jet location on RT3DE. CONCLUSION: RT3DE provides complementary information as to the mechanisms and sites of AV valve failure in congenital heart disease.

Plasma matrix metalloproteinases in neonates having surgery for congenital heart disease.

During cardiopulmonary-bypass matrix-metalloproteinases released may contribute to ventricular dysfunction. This study was to determine plasma matrix-metalloproteinases in neonates after cardiopulmonary-bypass and their relation to post-operative course. A prospective observational study included 18 neonates having cardiac surgery. Plasma matrix-metalloproteinases-2 and 9 activities were measured by gelatin-zymography pre-operatively, on starting cardiopulmonarybypass, 7-8 min after aortic cross-clamp release, and 1h, 4h, 24h, and 3d after cardiopulmonary-bypass. Plasma concentrations of their tissue inhibitors 1 and 2 were determined by enzyme-linked immunosorbent assay. Cardiac function was assessed by serial echocardiography. Paired t-tests and Wilcoxon tests were used to assess temporal changes, and linear correlation with simultaneous clinical and cardiac function parameters were assessed using Pearson's product-moment correlation coefficient. Plasma matrix-metalloproteinases activities and their tissue inhibitor concentrations decreased during cardiopulmonary-bypass. Matrix-metalloproteinase-2 plasma activity increased progressively starting 1h after cardiopulmonarybypass and returned to pre-operative levels at 24h. Matrix-metalloproteinase-9 plasma activity increased significantly after release of aortic cross-clamp, peaked 7-8min later, and returned to baseline at 24h. Plasma tissueinhibitor 1 and 2 concentrations increased 1h after cardiopulmonary-bypass. Cardiac function improved from 4h to 3d after surgery (p<0.05). There was no evidence of significant correlations between matrix-metalloproteinases or their inhibitors and cardiac function, inotrope scores, organ dysfunction scores, ventilation days, or hospital days. The temporal profile of plasma matrix-metalloproteinases and their inhibitors after cardiopulmonary-bypass in neonates are similar to adults. In neonates, further study should determine whether circulating matrix-metalloproteinases are useful biomarkers of disease activity locally within the myocardium, and hence of clinical outcomes.

Two-year survival and mental and psychomotor outcomes after the Norwood procedure: an analysis of the modified Blalock-Taussig shunt and right ventricle-to-pulmonary artery shunt surgical eras.

BACKGROUND: The Norwood procedure for stage 1 palliation of hypoplastic left heart syndrome is performed with either the modified Blalock-Taussig (MBTS) or the right ventricle-to-pulmonary artery (RVPA) shunt. In our institution, surgical practice changed from use of the MBTS to use of the RVPA shunt in 2002. We analyzed survival and mental and psychomotor outcomes of the 2 consecutive surgical eras. METHODS AND RESULTS: Between September 1996 and July 2005, 94 neonates with hypoplastic left heart syndrome underwent the Norwood procedure. Patients were recruited as neonates and followed up prospectively. Health, mental, and psychomotor outcomes (Bayley Scales of Infant Development-II) were assessed at 2 years. The study subjects were from the Norwood-MBTS era (n=62; 1996 to 2002) or the Norwood-RVPA era (n=32; 2002 to 2005). In the MBTS era, early and 2-year mortality rates were 23% (14/62) and 52% (32/62); the mean (SD) mental and psychomotor developmental indices were 79 (18) and 67 (19). In the RVPA era, early and 2-year mortality rates were 6% (2/32) and 19% (6/32); the mean (SD) mental and psychomotor developmental indices were 85 (18) and 78 (18). The 2-year mortality rate (P=0.002) and the psychomotor developmental index (P=0.029) were improved in the more recent surgical era. On multivariable Cox regression analysis, postoperative highest serum lactate independently predicted 2-year mortality in the MBTS and RVPA eras. CONCLUSIONS: Analysis of 2 consecutive surgical eras of hypoplastic left heart syndrome patients undergoing the Norwood procedure showed a significant improvement in 2-year survival and psychomotor development in the more recent era. Adverse neurodevelopmental outcome in this patient population remains a concern.

The survival of a newborn with an interrupted aortic arch and a closed ductus arteriosus.

Interrupted aortic arch is a rare congenital cardiovascular anomaly with a wide spectrum of anatomical and clinical presentation. We report the case of a newborn presenting at 11 days of age with a type B-2 aortic arch interruption, a closed ductus arteriosus, and an unusual large collateral vessel arising from the ascending aorta proximal to the right carotid artery and joining an aberrant right subclavian arising from the descending aorta.

Direct intracardiac placement of an automatic implantable cardioverter defibrillator coil lead in a small child.

A 3.5-year-old child with hypertrophic obstructive cardiomyopathy and recurrent syncope underwent surgical left-ventricular outflow tract myectomy and implantation of a single-chamber automatic cardioverter defibrillator. A single-coil active fixation lead was introduced via a purse-string suture in the right atrial appendage and the lead tip positioned and fixed in the right-ventricular apex under direct visualization via a small right atriotomy incision. Described configuration may be considered in small children undergoing intracardiac surgery at the time of defibrillator implantation.

Intermediate-term outcomes of the arterial switch operation for transposition of great arteries in neonates: alive but well?

OBJECTIVES: This interprovincial inception cohort study outlines the operative and intermediate outcomes of all neonates at a single institution with a broad referral area who underwent the arterial switch operation for transposition of great arteries, including complex types. Predictors of outcome are explored. METHODS: A total of 88 consecutive neonates underwent the arterial switch operation between 1996 and 2004 with full-flow (150 mg/kg/min) cardiopulmonary bypass with selective deep hypothermic circulatory arrest. Overall and event-free survivals were calculated. Health and neurodevelopment (Bayley Scales of Infant Development II) were assessed at 18 to 24 months of age. Univariate and multivariate analyses, sensitivity, and specificity were determined to identify preoperative, intraoperative, and postoperative factors associated with mental and/or motor delay. RESULTS: There was 1 operative mortality (1.1%). At the average 4-year follow-up, survival was 98.9% and freedom from reintervention was 93.2%. Eighty-five children were assessed. Three were excluded because of unrelated postoperative diagnoses. For the remaining 82, mean scores were 89 +/- 17 (49-118) for mental skills and 92 +/- 15 (49-125) for motor skills. Anatomic complexity, cardiopulmonary bypass, and deep hypothermic circulatory arrest times were not associated with developmental outcome. Preoperative variables of low gestational age and high preoperative lactate correctly classified 84.1% of mentally and/or motor-delayed children. CONCLUSION: Transposition of great arteries, including complex types, can be corrected with low surgical risk and good intermediate survival; however, neurodevelopmental outcome is a concern. These data suggest that although anatomic complexity may not affect late outcome, there may be potentially modifiable preoperative factors that can be optimized to improve developmental outcomes.

Antenatal diagnosis and successful surgical removal of a large right ventricular fibroma.

Congenital cardiac tumors are very rare and fibromas are the second most common type. Fibromas are benign tumors, but they have potentially serious complications. Their antenatal diagnosis is infrequently reported in the literature, and the management of these tumors is a source of controversy. We report the case of a rare form of right ventricular free wall fibroma. Antenatal diagnosis was made at 36 weeks of gestation, with subsequent successful resection at 2 weeks of age. A brief review of the literature focuses on the diagnostic approach and the clinical and surgical management of congenital cardiac fibromas.

Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease.

Congenital heart disease (CHD), comprising structural or functional abnormalities present at birth, is the most common birth defect in humans. Reduced expression of connexin40 (Cx40) has been found in association with atrial fibrillation, and deletion of Cx40 in a mouse model causes various structural heart abnormalities in 18% of heterozygotes. We screened 505 unrelated CHD cases for deletions or duplications of the Cx40 gene (GJA5) by real-time quantitative PCR, in order to determine whether altered copy number of this gene may be associated with a cardiac phenotype in humans. Dosage of Cx40 flanking genes (ACPL1 and Cx50 gene, GJA8) was determined by real-time PCR for all apparent positive cases. In total, 3 cases were found to carry deletions on chromosome 1q21.1 spanning ACPL1, Cx40, and Cx50 genes. Absence of heterozygosity was observed in all 3 index cases over a 1.5- to 3-Mb region. Samples from the parents of two cases were obtained, and microsatellites across 1q21.1 were genotyped. One of the apparently unaffected parents was found to carry this deletion. All 3 index cases presented with obstruction of the aortic arch as the common structural cardiac malformation, and had no consistent dysmorphic features. Genotyping of 520 unrelated normal controls for this deletion was negative. We hypothesize that this 1q21.1 multigene deletion is associated with a range of cardiac defects, with anomalies of the aortic arch being a particular feature.

Outcomes from an interprovincial program of newborn open heart surgery.

OBJECTIVES: To determine 18-month neurodevelopmental outcome of survivors of complex open heart surgery at