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The lack of United States population-based data on Turner syndrome limits assessments of prevalence and associated characteristics for this sex chromosome abnormality. Therefore, we collated 2000-2017 data from seven birth defects surveillance programs within the National Birth Defects Prevention Network. We estimated the prevalence of karyotype-confirmed Turner syndrome diagnosed within the first year of life. We also calculated the proportion of cases with commonly ascertained birth defects, assessed associations with maternal and infant characteristics using prevalence ratios (PR) with 95% confidence intervals (CI), and estimated survival probability. The prevalence of Turner syndrome of any pregnancy outcome was 3.2 per 10,000 female live births (95% CI = 3.0-3.3, program range: 1.0-10.4), and 1.9 for live birth and stillbirth (≥20 weeks gestation) cases (95% CI = 1.8-2.1, program range: 0.2-3.9). Prevalence was lowest among cases born to non-Hispanic Black women compared to non-Hispanic White women (PR = 0.5, 95% CI = 0.4-0.6). Coarctation of the aorta was the most common defect (11.6% of cases), and across the cohort, individuals without hypoplastic left heart had a five-year survival probability of 94.6%. The findings from this population-based study may inform surveillance practices, prenatal counseling, and diagnosis. We also identified racial and ethnic disparities in prevalence, an observation that warrants further investigation., (© 2023 Wiley Periodicals LLC.)

Objectives: (a) To determine the false-positive rate among newborns with prenatally suspected coarctation of the aorta (CoA) within the UCLA Health system, (b) to compare patient and maternal interventions and outcomes between false-positive cases and normal controls, and (c) to determine the timing of clinical presentation of CoA., Methods: We performed a single-center, retrospective case control study of all fetuses with suspected isolated CoA who underwent both fetal echocardiographic evaluation and subsequent delivery at UCLA between January 1, 2011, and December 31, 2018. Maternal and neonatal medical records were reviewed for demographic and clinical data, for cases of suspected CoA and for controls. A separate review of our institution's surgical database was performed to identify characteristics of all patients (neonatal and pediatric) with isolated CoA who underwent surgical repair during the same time period., Results: Among the 50 fetal cases of isolated suspected CoA who delivered at our institution, 47 patients (94%) were found to be normal (false positives). Compared with normal controls, patients with suspected CoA were more likely to have delayed maternal bonding, delayed feeding, admission to the intensive care unit, performance of neonatal echocardiograms, initiation of intravenous fluids and initiation of prostaglandin E1, and a longer length of hospital stay. Among the 38 patients undergoing CoA repair at our institution during the study period, four patients were prenatally diagnosed and no patient presented clinically with symptoms before 48 hours after delivery., Conclusion: Compared with normal controls, patients with prenatally suspected coarctation are more likely to have delayed maternal bonding, delayed feeding, more frequent neonatal echocardiograms, and longer length of hospital stay. Further refinement of neonatal management may improve postnatal care., (© 2020 John Wiley & Sons, Ltd.)

Exercise-induced hypertension is a predictor of cardiovascular events in patients with coarctation of aorta (COA). However, it is unclear whether mild COA diagnosis is an independent risk factor of exercise-induced hypertension. We hypothesized that for every unit increase in exercise, patients with COA (without hemodynamically significant coarctation) will have a higher rise in systolic blood pressure (SBP) compared with matched controls. One hundred forty-nine patients with COA (aortic coarctation peak velocity <2 m/s) who underwent exercise testing were matched 1:1 to controls using propensity score method based on age, sex, body mass index, hypertension diagnosis, and SBP at rest. We compared exercise-induced change in SBP between patients with COA and controls and also assessed the correlation between Doppler-derived aortic vascular function indices (effective arterial elastance index and total arterial compliance index) and exercise-induced changes in SBP. Compared with controls, patients with COA had a greater change in SBP per unit metabolic equivalent (β=2.86; 95% CI, 1.96-4.77 versus 1.07, 95% CI, -0.15 to 1.75; P =0.018) and per unit oxygen pulse (β=4.57; 95% CI, 2.97-7.12 versus 1.45, 95% CI, -0.79 to 2.09, P <0.001). There was a correlation between SBP peak -SBP rest and elastance index ( r =0.38, P =0.032) and between SBP peak -SBP rest and total arterial compliance index ( r =-0.51, P =0.001), suggesting an association between vascular dysfunction and exercise-induced BP changes. Patients with COA, without significant obstruction, had higher exercise-induced changes in SBP after adjustment for other risk factors for hypertension. Considering the already known prognostic importance of exercise-induced hypertension, the current study highlights the potential role of exercise testing for risk stratification of patients with mild COA.

Adults with repaired coarctation of the aorta (CoA) suffer reduced long-term survival compared with the general population, in part due to coronary artery disease (CAD). There is conflicting evidence as to whether or not CoA is an independent risk factor for CAD. The primary aim was to determine if CoA is independently associated with premature myocardial infarction (MI) in the contemporary era. The secondary aim was to determine if CoA is independently associated with early coronary intervention. In a cross-sectional study using the National Inpatient Sample database from 2005 to 2014, we compared the age at MI and the age at coronary intervention (coronary artery bypass grafting or percutaneous coronary intervention, in the absence of MI diagnosis) in patients with and without CoA using weighted linear regression. Among 5,472,416 observations with a primary diagnosis of MI, 174 had a diagnosis of CoA. Patients with CoA had MI 7.2 years younger than those without CoA, after adjusting for potential confounders (95% CI -11.3, -3.1, p = 0.001). Among 3,631,718 patients without a diagnosis of MI who underwent coronary artery bypass grafting or percutaneous coronary intervention, 279 had a diagnosis of CoA. Patients with CoA who underwent coronary intervention were 15.6 years younger than those without CoA, after adjusting for potential confounders (95% CI -18.3, -12.9, p < 0.001). In conclusion, patients with CoA have MI at a slightly younger age and undergo coronary intervention at a significantly younger age than those without CoA in the contemporary era. Our findings support continued close surveillance for and treatment of modifiable risk factors for CAD., (Copyright © 2018. Published by Elsevier Inc.)

Background: We evaluated selected birth defects over a 9-year period to assess prevalence trends by selected maternal and infant factors., Methods: Data were pooled from 11 population-based birth defects surveillance programs in the United States for children born between 1999 and 2007. Overall prevalence, as well as 3-year interval prevalence, was calculated for 26 specific birth defects, stratified by maternal age, maternal race/ethnicity, and infant sex. Average annual percent change (AAPC) was calculated for each birth defect. Poisson regression was used to determine change in AAPC, and joinpoint regression to identify breakpoints and changes in slope for prevalence of each defect over time., Results: Between 1999 and 2001 and 2005 and 2007, four birth defects increased by 10% or more: coarctation of the aorta (17%), gastroschisis (83%), omphalocele (11%), and Down syndrome (10%). Among mothers <20 years of age, the gastroschisis AAPC increased 10.1% overall and, cross-classified by maternal race/ethnicity, the AAPC for mothers <20 years increased 9.2%, 25.7%, and 7.7% among non-Hispanic white (NHW), non-Hispanic black (NHB), and Hispanic mothers, respectively. A small increase in Down syndrome (AAPC 4.4%) was found for NHB mothers ≥35 years., Conclusion: No significant trends in prevalence were identified for most birth defects. Gastroschisis prevalence increased significantly among NHW and NHB mothers <20 years of age, with the greatest increases in NHB mothers. Prevalence of Down syndrome among NHB mothers ≥35 years also increased slightly. Stratified results may suggest avenues of research in birth defect etiology and in evaluating prevention efforts. Birth Defects Research 109:1442-1450, 2017.© 2017 Wiley Periodicals, Inc., (© 2017 Wiley Periodicals, Inc.)

Current estimates of the incidence of congenital heart disease (CHD) are derived from small clinical studies and metaanalyses. For the true incidence of CHD in the United States of America to be estimated, a single large representative population must be analyzed. All the data in this study were derived from the Nationwide Inpatient Sample database. The study determined the overall and lesion-specific incidences of CHD diagnoses among all birth hospitalizations in 2008, stratified by race, gender, socioeconomic status, and hospital geographic location. The study identified 13,093 CHD diagnoses among 1,204,887 birth hospitalizations, yielding an incidence of 10.8 per 1,000, with a predominance of mild lesions and septal defects. Atrial septal defect (ASD) and pulmonic stenosis were more common among females, whereas aortic stenosis, coarctation of the aorta, hypoplastic left heart syndrome, and d-transposition of great arteries were more common among males. No racial difference was observed in the overall CHD incidence. However, isolated patent ductus arteriosus (PDA) and ventricular septal defects (VSDs) were more common among Caucasians, whereas ASDs were more common among Hispanics. The incidences of CHD diagnoses were similar for all socioeconomic classes except the lowest socioeconomic class, which had a significantly lower CHD incidence. There was no geographic or seasonal variation in CHD incidence. This study demonstrated the incidence of echocardiographically confirmed CHD diagnosis to be 10.8 per 1,000 live births, marked by a high proportion of mild cardiac lesions and isolated PDAs. The high incidence of isolated PDAs in this study may be explained by the inclusion of only CHD diagnoses during birth hospitalization.

Isolated coarctation of the aorta (CoA) occurs in 6-8 % of patients with congenital heart disease. After successful relief of obstruction, patients remain at risk for aortic aneurysm formation at the site of the repair. We sought to determine the diagnostic utility of echocardiography compared with advanced arch imaging (AAI) in diagnosing aortic aneurysms in pediatric patients after CoA repair. The Congenital Heart Databases from 1996 and 2009 were reviewed. All patients treated for CoA who had AAI defined by cardiac magnetic resonance imaging (MRI), computed tomography (CT), or catheterization were identified. Data collected included the following: type, timing, and number of interventions, presence and time to aneurysm diagnosis, and mortality. Patients were subdivided into surgical and catheterization groups for analysis. Seven hundred and fifty-nine patients underwent treatment for CoA during the study period. Three hundred and ninety-nine patients had at least one AAI. Aneurysms were diagnosed by AAI in 28 of 399 patients at a mean of 10 ± 8.4 years after treatment. Echocardiography reports were available for 380 of 399 patients with AAI. The sensitivity of echocardiography for detecting aneurysms was 24 %. The prevalence of aneurysms was significantly greater in the catheterization group (p < 0.05) compared with the surgery group. Aneurysm was also diagnosed earlier in the catheterization group compared with the surgery group (p = 0.02). Multivariate analysis showed a significantly increased risk of aneurysm diagnosis in patients in the catheterization subgroup and in patients requiring more than three procedures. Aortic aneurysms continue to be an important complication after CoA repair. Although serial echocardiograms are the test of choice for following-up most congenital cardiac lesions in pediatrics, our data show that echocardiography is inadequate for the detection of aneurysms after CoA repair. Because the time to aneurysm diagnosis was shorter and the risk greater in the catheterization group (particularly for patients requiring more than one procedure), surveillance with cardiac MRI or CT should begin earlier in these patients.

Echocardiography is the mainstay of preoperative arch imaging in infants with coarctation of the aorta. In simple coarctation, repair by way of sternotomy or thoracotomy is often determined by echocardiographic transverse arch measurements. The degree of arch hypoplasia that is prohibitive to repair by way of thoracotomy is unknown. Clinical predictors of recoarctation are also unknown. Demographic, echocardiographic (transverse arch and aortic measurements), operative, and postoperative data of infants <90 days old with simple coarctation repaired by way of thoracotomy between February 2005 and November 2011 were evaluated. Recoarctation was defined as surgical or catheter reintervention after hospital discharge. Eighty-four infants underwent coarctation repair at median age of 12 (range 1-85) days with median follow-up of 12.3 (range 0.5-71.9) months. The seven (8 %) infants with recoarctation underwent balloon angioplasty. In multivariable analysis, only greater postoperative Doppler peak velocity [1.13, confidence interval (CI) 1.04-1.23] and greater sinotubular junction z-score (hazard ratio 4.19, CI 1.47-11.95) independently predicted coarctation. Doppler peak velocity >2.12 m/s had sensitivity of 63 % and specificity of 83 % of predicting recoarctation, and ST junction z-score >-0.93 had sensitivity of 100 % and specificity of 58 %. No transverse arch dimensions were independently associated with recoarctation. Infants with transverse arch z-score as low as -2.8 underwent successful repair by way of thoracotomy. No clinical predictors were significant.

Background: Few epidemiologic studies have investigated the use of venlafaxine (Effexor XR capsules, Product Monograph, Wyeth, Montreal, Canada), an antidepressant used to treat major depression and anxiety disorders in adults, during pregnancy. Our objective was to determine whether use of venlafaxine during pregnancy is associated with specific birth defects., Methods: We used data from the National Birth Defects Prevention Study (NBDPS), a population-based, case-control study in the United States. Our analysis included mothers with pregnancies affected by one of 30 selected birth defects (cases) and babies without birth defects (controls) with estimated dates of delivery between 1997 and 2007. Exposure was any reported use of venlafaxine from 1 month preconception through the third month of pregnancy. We calculated adjusted odds ratios (aORs) and 95% Fisher Exact confidence intervals (CIs) for 24 birth defect groups for which at least 400 case mothers were interviewed. Our adjusted analyses controlled for maternal age and race/ethnicity., Results: Among the 27,045 NBDPS participants who met inclusion criteria, 0.17% (14/8002) of control mothers and 0.40% (77/19,043) of case mothers reported any use of venlafaxine from 1 month preconception through the third month of pregnancy. Statistically significant associations were found for anencephaly, atrial septal defect (ASD) secundum, or ASD not otherwise specified, coarctation of the aorta, cleft palate, and gastroschisis., Conclusions: Our data suggest associations between periconceptional use of venlafaxine and some birth defects. However, sample sizes were small, CIs were wide, and additional studies are needed to confirm these results., (Copyright © 2012 Wiley Periodicals, Inc.)

Objective: Hypoplastic left heart syndrome is a major congenital heart defect and is associated with significant morbidity and mortality. Its etiology remains unknown although genetic studies imply complex inheritance. Anecdotal reports of cluster presentations suggest the possible involvement of an environmental component, although previous epidemiologic studies have been of limited scope. The objective of this study was to examine seasonal and temporal patterns of hypoplastic left heart syndrome births compared with other left-sided heart defects in the United States., Methods: We conducted a retrospective analysis of the Pediatric Health Information System inpatient database from pediatric hospitals across the country from 1996 to 2006. Population and index case patterns were analyzed for each diagnostic category. An epidemiologic survey was performed through time-series analyses using Fisher's Kappa test and the Bartlett Kolmogorov-Smirnov test. The existence and strength of seasonality for the left-sided heart defects was quantified by the autoregression R2., Results: A seasonal occurrence was found in hypoplastic left heart syndrome but not other left-sided heart diseases. Significant seasonal differences occurred each year, with peaks in summer months and troughs in winter months. The seasonality inversely correlated with the incidence of chromosomal and extracardiac anomalies; such anomalies were highest in interrupted aortic arch, which had a random pattern of presentation., Conclusions: There is a significant seasonal pattern in the presentation of hypoplastic left heart syndrome, with preponderance in summer months, in contrast to the random pattern in other left-sided heart diseases. Further studies are warranted to identify the influence of potential environmental factor(s) in hypoplastic left heart syndrome, as seen in diseases with seasonal patterns., (Copyright © 2011 The American Association for Thoracic Surgery. Published by Mosby, Inc. All rights reserved.)

Cardiovascular malformations (CVM) are the most common birth defects and carry significant and lifelong personal and societal costs. Research into genetic and environmental risk factors is therefore critical in identifying clues to causation and prevention. The purpose of this study was to investigate patterns of familial aggregation in CVM, specifically among infants with left-sided obstructive heart defects. We ascertained families of probands with hypoplastic left heart (HLH: N = 38), coarctation of the aorta (CoA: N = 46), and d-transposition of the great arteries (dTGA: N = 22). First degree relatives had clinical examinations and echocardiograms; all other relatives had detailed reviews of medical records. A total of 2,694 relatives were included in the study: 379 1st degree, 986 2nd degree, and 1,329 3rd degree. Mean nuclear family size and sibship size were similar among the groups. CVM were detected more frequently in 1st degree relatives of probands with HLH (19.3%) or CoA (9.4%) than among dTGA families (2.7%). The proportions of affected 2nd degree relatives were similar across groups (