http://stacks.cdc.gov/view/cdc/31318/cdc_31318_DS1.pdf

Current Estimate of Down Syndrome Population Prevalence in the United States

Hypoplastic left heart syndrome

Thrombosis has long been recognized as a potentially life-threatening complication in children with congenital heart disease (CHD), children with acquired heart disease, and in adults with CHD. High-risk groups include patients with shunt- dependent single ventricles (shunt thrombosis, 8%–12%; 4%

Prevention and Treatment of Thrombosis in Pediatric and Congenital Heart Disease A Scientific Statement From the American Heart Association

European Resuscitation Council Guidelines 2021: Cardiac arrest in special circumstances.

OBJECTIVES: To provide evidence to inform policy decisions about the most appropriate newborn screening strategy for congenital heart defects, identifying priorities for future research that might reduce important uncertainties in the evidence base for such decisions DATA SOURCES: Electronic databases Groups of parents and health professionals REVIEW METHODS: A systematic review of the published medical literature concerning outcomes for children with congenital heart defects was carried out A decision analytic model was developed to assess the cost-effectiveness of alternative screening strategies for congenital heart defects relevant to the UK A further study was then carried out using a self-administered anonymous questionnaire to explore the perspectives of parents and health professionals towards the quality of life of children with congenital heart defects The findings from a structured review of the medical literature regarding parental experiences were linked with those from a focus group of parents of children with congenital heart defects RESULTS: Current newborn screening policy comprises a clinical examination at birth and 6 weeks, with specific cardiac investigations for specified high-risk children Routine data are lacking, but under half of affected babies, not previously identified antenatally or because of symptoms, are identified by current newborn screening There is evidence that screen-positive infants do not receive timely management Pulse oximetry and echocardiography, in addition to clinical examination, are alternative newborn screening strategies but their cost-effectiveness has not been adequately evaluated in a UK setting In a population of 100,000 live-born infants, the model predicts 121 infants with life-threatening congenital heart defects undiagnosed at screening, of whom 82 (68%) and 83 (69%) are detected by pulse oximetry and screening echocardiography, respectively, but only 39 (32%) by clinical examination alone Of these, 71, 71 and 34, respectively, receive a timely diagnosis The model predicts 46 (05%) false-positive screening diagnoses per 100,000 infants with clinical examination, 1168 (13%) with pulse oximetry and 4857 (54%) with screening echocardiography The latter includes infants with clinically non-significant defects Total programme costs are predicted of pound 300,000 for clinical examination, pound 480,000 for pulse oximetry and pound 354 million for screening echocardiography The additional cost per additional timely diagnosis of life-threatening congenital heart defects ranges from pound 4900 for pulse oximetry to pound 45 million for screening echocardiography Including clinically significant congenital heart defects gives an additional cost per additional diagnosis of pound 1500 for pulse oximetry and pound 36,000 for screening echocardiography Key determinants for cost-effectiveness are detection rates for pulse oximetry and screening echocardiography Parents and health professionals place similar values on the quality of life outcomes of children with congenital heart defects and both are more averse to neurological than to cardiac disability Adverse psychosocial effects for parents are focused around poor management and/or false test results CONCLUSIONS: Early detection through newborn screening potentially can improve the outcome of congenital heart defects; however the current programme performs poorly, and lacks monitoring of quality assurance, performance management and longer term outcomes Pulse oximetry is a promising alternative newborn screening strategy but further evaluation is needed to obtain more precise estimates of test performance and to inform optimal timing, diagnostic and management strategies Although screening echocardiography is associated with the highest detection rate, it is the most costly strategy and has a 5% false-positive rate Improving antenatal detection of congenital heart defects increases the cost per timely postnatal diagnosis afforded by any newborn screening strategy but does not alter the relative effects of the strategies An improvement of timely management of screen positive infants is essential Further research is required to refine the detection rate and other aspects of pulse oximetry, to evaluate antenatal screening strategies more directly, and to investigate the psychosocial effects of newborn screening for congenital heart defects

Newborn screening for congenital heart defects: a systematic review and cost-effectiveness analysis.

The authors present their experience in surgical treatment of children with total anomalous pulmonary venous connection. A retrospective analysis was carried out in 42 patients operated on in the years 1979-1999. The group included 30 boys aged 7 days to 7 years (mean 170 +/- 480 days) and 12 girls aged 14 days to 7 months (mean 86 +/- 80 days). Diagnostic studies allowed to determine that 24 patients (57%) had supracardiac type (type I), nine (21%)--cardiac (type II), five (12%)--infracardiac (type III) and four (10%)--mixed (type IV). The diagnosis was based on clinical examinations and echocardiography, supplemented in 17 patients (40%) by hemodynamic studies and angiocardiography. Preoperative pulmonary hypertension was noted in 34 children (81%), including 15 patients (36%) diagnosed by hemodynamic studies and 19 children (45%) by echocardiography. All children were operated on in deep hypothermia with circulatory arrest. In the early postoperative period (30 days), seven children (17%) died, while four more (9.5%) died in the latter period. The former were characterized by significantly lower birth weight values (p = 0.023). The total mortality rate was higher in children with type II and III anomalies. No statistically significant association was found between preoperative pulmonary hypertension and early mortality. Thirty-one children (74%) remain in late follow-up. All of them are in NYHA (New York Heart Association) class I and develop normally. Total anomalous pulmonary venous connection is a rare congenital anomaly that can be fully repaired with improving early and late results.

Operative outcome in children with total anomalous pulmonary venous connection

Introduction Hypoplastic left heart syndrome (HLHS) is a congenital heart anomaly that is diagnosed prenatally or postnatally. The prenatal diagnosis leads to limiting the rate of systemic complications in the preoperative period due to optimization of the early therapeutic management. Objective The objective of the study is to determine the effect of prenatal diagnostic management of HLHS on the condition of newborns and the frequency of antibiotherapy employment prior to the first stage of surgical treatment. Methodology The study included 95 children with HLHS operated on in the years 2014-2016. The cohort was divided into two groups: newborns with a prenatally diagnosed heart defect (50 children - 52.6%) and neonates with the defect diagnosed after birth (45 children - 47.4%). The data of the patients were analyzed based on their medical records. Results The mean age of the children upon admission was 3.86 days in the group of patients with the prenatally diagnosed heart defect (PreHLHS) and 7.41 days in the group of newborns without the prenatal diagnosis (PostHLHS) (p = 0.001). In 60% of the PreHLHS group patients (30/50), at least one antibiotic was administered, while in the PostHLHS group, antibiotherapy was employed in 93.3% (42/45) cases (p = 0.001). Bacteriological tests demonstrated pathogen growth in 33 children (36% and 33.3%, respectively), what accounted for 34.7% of the entire cohort. On the average, the first antibiotic was introduced on the 6.55th day of life in the PreHLHS group and on the 2.73th day in the PostHLHS group (p = 0.005). The most profound differences in antibiotic employment involved aminoglycosides. The aforementioned type of antibiotic medications was administered to 6% of the children with the prenatal diagnosis and to 17.8% of the children diagnosed postnatally (p = 0.042). Conclusions Preoperative antibiotherapy in children with HLHS was employed more frequently than it would be indicated by microbiology tests results. Antibiotics were observed to be introduced more commonly and earlier in the newborns with the postnatally diagnosed congenital heart defect.

The effect of prenatal diagnosis on antibiotic therapy in neonates with hypoplastic left heart syndrome. Antibiotics in prenatally diagnosed patients with HLHS.

WADY WRODZONE Disturbances of pulmonary blood flow after the Fontan operation – computational analysis using finite element method

Muscular ventricular septal defects (VSD) located below the trabecula saepto-marginalis are difficult to approach for surgical closure through the tricuspid valve. We present the hybrid technique of perventricular closure of VSD in 2- and 5-year old children with complex congenital heart defects, employing an Amplatzer septal occluder, dedicated to muscular type of VSD. The procedures were performed during cardiopulmonary bypass in one patient and on beating heart in the other one. The perventricular device technique may be the method of choice for closing hard to reach muscular VSD.

Hybrydowe, przezkomorowe zamknięcie mięśniowych ubytków międzykomorowych Hybrid, perventricular closure of muscular ventricular septal defects

BACKGROUND Recoarctation (reCoA) of the aorta is a common complication afer the Norwood procedure. Untreated, it can lead to failure of the systemic ventricle and death. The main goal of the study is to define risk factors of reCoA after the Norwood procedure in hypoplastic left heart syndrome (HLHS). METHODS We retrospectively analyzed the pre-, intra- and postoperative data of 96 successive patients who underwent the Norwood procedure between 2007 and 2011. In case of reCoA balloon angioplasty was performed. We analyzed and compared the data of the patients with reCoA and without reCoA using the StatSo STATISTICA TM 10 software. RESULTS ReCoA was noted in 23 patients (33.3%). This complication was diagnosed 95.1 days (49-156 days) on the average a er the Norwood procedure. Balloon angioplasty successfully allowed for decreasing the mean gradient across the site of the narrowing from the average 27.5 mmHg to the average 9.7 mmHg (p = 0.008) and enlarged the neo-isthmus by the average of 2 mm (p <0.05). The risks factors seemed to be the diameter of the ascending aorta OR = 7.82 (p = 0.001), atresia of the mitral valve OR = 7.00 (p = 0.003) and atresia of the aortic valve - OR = 6.22 (p = 0.002). CONCLUSION Balloon angioplasty seems to be an effective intervention in case of reCoA. A low diameter of the native ascending aorta (<=3mm) and the presence of atresia of the mitral and/or aortic valve should intensify the vigilance of a cardiologist in the search for signs of reCoA of the aorta.

Tomasz Mroczek

Papers

Operative outcome in children with total anomalous pulmonary venous connection

The effect of prenatal diagnosis on antibiotic therapy in neonates with hypoplastic left heart syndrome. Antibiotics in prenatally diagnosed patients with HLHS.

WADY WRODZONE Disturbances of pulmonary blood flow after the Fontan operation – computational analysis using finite element method

Hybrydowe, przezkomorowe zamknięcie mięśniowych ubytków międzykomorowych Hybrid, perventricular closure of muscular ventricular septal defects

Risk factors for recoarctation of aorta after Norwood procedure in patients with hypoplastic left heart syndrome