Relationship Between Environmental Air Quality and Congenital Heart Defects.

BACKGROUND: Congenital heart defects (CHDs) affect 40,000 U.S. infants annually. One fourth of these infants have a critical CHD, requiring intervention within the first year of life for survival. Over 80% of CHDs have an unknown etiology. Fine particulate matter ≤2.5 (PM2.5) and ozone (O3) may be air pollutants associated with CHD. OBJECTIVES: The purpose of this study was to explore relationships between first-trimester maternal exposure to air pollutants PM2.5 and O3 and a critical CHD diagnosis. METHODS: A retrospective cohort study with nested case controls was conducted using data from January 1, 2014, to December 31, 2016, and consisted of 199 infants with a diagnosed critical CHD and 550 controls. Air pollution data were obtained from the U.S. Environmental Protection Agency air monitors. Geographic information system software was used to geocode monitoring stations and infant residential locations. Data analysis included frequencies, chi-square, independent t-test analysis, and binary logistic regression for two time periods: the entire first trimester (Weeks 1-12) and the critical exposure window (Weeks 3-8 gestation). RESULTS: Critical CHD odds were not significantly increased by exposure during the first trimester. However, weekly analyses revealed CHD odds were higher in Weeks 5 and 8 as PM2.5 increased and decreased in Week 11 with increased O3 exposure. DISCUSSION: Our study shows no evidence to support the overall association between air pollutants PM2.5 and O3 and a critical CHD diagnosis. However, analyses by week suggested vulnerability in certain weeks of gestation and warrant additional surveillance and study.

Pre-pregnancy Obesity as a Modifier of Gestational Diabetes and Birth Defects Associations: A Systematic Review.

Objective Inconsistent findings of associations between gestational diabetes mellitus (GDM) and birth defects suggest unaccounted confounders may underlie the actual basis for such associations. We conducted a systematic review to assess observed associations between GDM and birth defects and the extent to which these could be explained by pre-pregnancy obesity. Methods Using a combination of search terms for GDM and birth defects, we searched PubMed, Scopus, CINAHL, and ClinicalTrials.gov for human-based studies published through September 2013. Studies were eligible for inclusion if they included information on maternal diabetes status, method of diagnosis of GDM, and assessment of birth defects. Twenty-four of 768 potential articles were included. We collected information on study design, location and period, method of determination of diabetes status, types of birth defects, and measures of association reported. Results There was no evidence for consistent association of GDM with birth defects, with the exception of a weak association between GDM and congenital heart defects. When stratified by maternal pre-pregnancy BMI, an association between GDM and congenital heart defects and between GDM and neural tube defects was evident only in women with both GDM and pre-pregnancy obesity. Conclusions for Practice Our findings suggest reported associations between GDM and birth defects may be due, in part, to undiagnosed metabolic disorders associated with obesity, such as pregestational diabetes mellitus, rather than GDM. These findings highlight the need for increased efforts for pre-pregnancy screening for undiagnosed diabetes and awareness of the importance of weight management among women of childbearing age with obesity.

"Not-so-identical" twins with trisomy 21 and perimembranous ventricular septal defects.

While trisomy 21 is a common genetic disorder in singletons, the incidence among identical twins is very rare, occurring in approximately 1-2 per 1000 twin gestations. Trisomy 21 is associated with high incidence of congenital heart defects, and commonly occurs with ventricular septal defects (VSDs). Physiologic burden of VSDs depends on prevalence of anatomic and other circulatory factors. A case of identical twins with trisomy 21 and large VSDs is described in the present report. Though genetically identical, phenotypes varied significantly. One twin was managed medically, while the other developed more significant heart failure, requiring operative repair.

Biventricular repair in a neonate with obstructive inflow cardiac rhabdomyoma and tuberous sclerosis.

A neonate with prenatally diagnosed large intracardiac rhabdomyomas and suspicion of tuberous sclerosis presented at birth with severe ductal-dependent obstruction at the tricuspid valve and an atrial septal defect (ASD). Biventricular repair at 9 days of life included tumor resection, repair of the posterior leaflet of the tricuspid valve with autologous pericardium, fenestrated ASD closure, and ductus ligation. After an uneventful postoperative recovery, follow-up echocardiography at two months showed excellent results with tricuspid valve competency and normal biventricular function. Overall prognosis will probably depend on issues pertaining to tuberous sclerosis.

22q11.2 Deletion syndrome is associated with increased perioperative events and more complicated postoperative course in infants undergoing infant operative correction of truncus arteriosus communis or interrupted aortic arch.

OBJECTIVE: The effect of genotype on the outcomes of infant cardiac operations has not been well established. The purpose of the present study was to investigate the effect of 22q11.2 deletion (22q11del) on infants with truncus arteriosus communis (TA) and interrupted aortic arch (IAA) undergoing operative correction during infancy. METHODS: We conducted a retrospective cohort study of all infants who had undergone operative correction of TA or IAA at the Children's Hospital of Philadelphia from 1995 to 2007, comparing the perioperative outcomes (hospital length of stay, intensive care, mechanical ventilation, risk of cardiac and noncardiac events, number of consultations, and number of discharge medications) by 22q11del status. RESULTS: A total of 104 patients were studied (55 with TA and 49 with IAA), of whom 40 (38%) were 22q11del positive. The 22q11del status was unknown in 9 (7 with TA and 2 with IAA). In patients with known deletion status, those with 22q11del had a longer hospital and intensive care length of stay. Subjects with 22q11del also required more frequent operative reintervention and more consultations and were prescribed more medications at discharge. No significant difference was found in method of feeding between those with and without 22q11del at discharge. CONCLUSIONS: In this study, 22q11del is associated with perioperative outcomes in infants undergoing operative correction of TA and IAA, with longer hospital stays and greater resource utilization in the perioperative period. These findings should inform counseling and risk stratification and warrant additional study to identify genotype-specific management strategies to improve outcomes.

Osteosarcoma with cardiac metastasis in a 22-year-old man: a case report and review of cardiac tumors.

Primary osteosarcoma accounts for 3% of all childhood cancer. It commonly occurs during the adolescent growth spurt and is more common in boys than girls and in African Americans than white people. The 5-year survival is approximately 79%. Cardiac metastasis of osteosarcoma is exceedingly rare; we present an unusual case in a 22-year-old man with significant intracardiac tumor burden. Additionally, we review the current pediatric cardiac tumor literature.

Accuracy of the all patient refined diagnosis related groups classification system in congenital heart surgery.

BACKGROUND: Administrative data are increasingly used to evaluate clinical outcomes and quality of care in pediatric congenital heart surgery (CHS) programs. Several published analyses of large pediatric administrative data sets have relied on the All Patient Refined Diagnosis Related Groups (APR-DRG, version 24) diagnostic classification system. The accuracy of this classification system for patients undergoing CHS is unclear. METHODS: We performed a retrospective cohort study of all 14,098 patients 0 to 5 years of age undergoing any of six selected congenital heart operations, ranging in complexity from isolated closure of a ventricular septal defect to single-ventricle palliation, at 40 tertiary-care pediatric centers in the Pediatric Health Information Systems database between 2007 and 2010. Assigned APR-DRGs (cardiac versus noncardiac) were compared using χ2 or Fisher's exact tests between those patients admitted during the first day of life versus later and between those receiving extracorporeal membrane oxygenation support versus those not. Recursive partitioning was used to assess the greatest determinants of APR-DRG type in the model. RESULTS: Every patient admitted on day 1 of life was assigned to a noncardiac APR-DRG (p<0.001 for each procedure). Similarly, use of extracorporeal membrane oxygenation was highly associated with misclassification of CHS patients into a noncardiac APR-DRG (p<0.001 for each procedure). Cases misclassified into a noncardiac APR-DRG experienced a significantly increased mortality (p<0.001). CONCLUSIONS: In classifying patients undergoing CHS, APR-DRG coding has systematic misclassifications, which may result in inaccurate reporting of CHS case volumes and mortality.