Wendy N. Nembhard

Mortality Resulting From Congenital Heart Disease Among Children and Adults in the United States, 1999 to 2006

Background— Previous reports suggest that mortality resulting from congenital heart disease (CHD) among infants and young children has been decreasing. There is little population-based information on CHD mortality trends and patterns among older children and adults. Methods and Results— We used data from death certificates filed in the United States from 1999 to 2006 to calculate annual CHD mortality by age at death, race-ethnicity, and sex. To calculate mortality rates for individuals ≥1 year of age, population counts from the US Census were used in the denominator; for infant mortality, live birth counts were used. From 1999 to 2006, there were 41 494 CHD-related deaths and 27 960 deaths resulting from CHD (age-standardized mortality rates, 1.78 and 1.20 per 100 000, respectively). During this period, mortality resulting from CHD declined 24.1% overall. Mortality resulting from CHD significantly declined among all race-ethnicities studied. However, disparities persisted; overall and among infants, mortality resulting from CHD was consistently higher among non-Hispanic blacks compared with non-Hispanic whites. Infant mortality accounted for 48.1% of all mortality resulting from CHD; among those who survived the first year of life, 76.1% of deaths occurred during adulthood (≥18 years of age). Conclusions— CHD mortality continued to decline among both children and adults; however, differences between race-ethnicities persisted. A large proportion of CHD-related mortality occurred during infancy, although significant CHD mortality occurred during adulthood, indicating the need for adult CHD specialty management.

Congenital Heart Defects in the United States Estimating the Magnitude of the Affected Population in 2010

Background: Because of advancements in care, there has been a decline in mortality from congenital heart defects (CHDs) over the past several decades. However, there are no current empirical data documenting the number of people living with CHDs in the United States. Our aim was to estimate the CHD prevalence across all age groups in the United States in the year 2010. Methods: The age-, sex-, and severity-specific observed prevalence of CHDs in Québec, Canada, in the year 2010 was assumed to equal the CHD prevalence in the non-Hispanic white population in the United States in 2010. A race-ethnicity adjustment factor, reflecting differential survival between racial-ethnic groups through 5 years of age for individuals with a CHD and that in the general US population, was applied to the estimated non-Hispanic white rates to derive CHD prevalence estimates among US non-Hispanic blacks and Hispanics. Confidence intervals for the estimated CHD prevalence rates and case counts were derived from a combination of Taylor series approximations and Monte Carlo simulation. Results: We estimated that ≈2.4 million people (1.4 million adults, 1 million children) were living with CHDs in the United States in 2010. Nearly 300 000 of these individuals had severe CHDs. Conclusions: Our estimates highlight the need for 2 important efforts: planning for health services delivery to meet the needs of the growing population of adults with CHD and the development of surveillance data across the life span to provide empirical estimates of the prevalence of CHD across all age groups in the United States.Background: Because of advancements in care, there has been a decline in mortality from congenital heart defects (CHDs) over the past several decades. However, there are no current empirical data documenting the number of people living with CHDs in the United States. Our aim was to estimate the CHD prevalence across all age groups in the United States in the year 2010. Methods: The age-, sex-, and severity-specific observed prevalence of CHDs in Quebec, Canada, in the year 2010 was assumed to equal the CHD prevalence in the non-Hispanic white population in the United States in 2010. A race-ethnicity adjustment factor, reflecting differential survival between racial-ethnic groups through 5 years of age for individuals with a CHD and that in the general US population, was applied to the estimated non-Hispanic white rates to derive CHD prevalence estimates among US non-Hispanic blacks and Hispanics. Confidence intervals for the estimated CHD prevalence rates and case counts were derived from a combination of Taylor series approximations and Monte Carlo simulation. Results: We estimated that ≈2.4 million people (1.4 million adults, 1 million children) were living with CHDs in the United States in 2010. Nearly 300 000 of these individuals had severe CHDs. Conclusions: Our estimates highlight the need for 2 important efforts: planning for health services delivery to meet the needs of the growing population of adults with CHD and the development of surveillance data across the life span to provide empirical estimates of the prevalence of CHD across all age groups in the United States. # Clinical Perspective {#article-title-32}

Prenatal Diagnosis, Birth Location, Surgical Center, and Neonatal Mortality in Infants With Hypoplastic Left Heart Syndrome

Background— Most studies have not demonstrated improved survival after prenatal diagnosis of critical congenital heart disease, including hypoplastic left heart syndrome (HLHS). However, the effect of delivery near a cardiac surgical center (CSC), the recommended action after prenatal diagnosis, on HLHS mortality has been poorly investigated. Methods and Results— Using Texas Birth Defects Registry data, 1999 through 2007, which monitored >3.4 million births, we investigated the association between distance (calculated driving time) from birth center to CSC and neonatal mortality in 463 infants with HLHS. Infants with extracardiac birth defects or genetic disorders were excluded. The associations between prenatal diagnosis, CSC HLHS volume, and mortality were also examined. Neonatal mortality in infants born <10 minutes from a CSC was 21.0%, 10 to 90 minutes 25.2%, and >90 minutes 39.6% (P for trend <0.001). Prenatal diagnosis alone was not associated with improved survival (P=0.14). In multivariable analysis, birth >90 minutes from a CSC remained associated with increased mortality (odds ratio, 2.03; 95% confidence interval, 1.19–3.45), compared with <10 minutes. In subanalysis, birth >90 minutes from a CSC was associated with higher pretransport mortality (odds ratio, 6.69; 95% confidence interval, 2.52–17.74) and birth 10 to 90 minutes with higher presurgical mortality (odds ratio, 4.45; 95% confidence interval, 1.17–17.00). Higher surgical mortality was associated with lower CSC HLHS volume (odds ratio per 10 patients, 0.88; 95% confidence interval, 0.84–0.91). Conclusions— Infants with HLHS born far from a CSC have increased neonatal mortality, and most of this mortality is presurgical. Efforts to improve prenatal diagnosis of HLHS and subsequent delivery near a large volume CSC may significantly improve neonatal HLHS survival.

Mortality in First 5 Years in Infants With Functional Single Ventricle Born in Texas, 1996 to 2003

Background— Infants with functional single ventricle have a high risk of death during the early years of life. Studies have reported improvement in postoperative survival, but they do not include preoperative deaths or those occurring before transfer. The purpose of this population-based study was to estimate 5-year survival in infants with functional single ventricle, to define factors associated with survival, and to estimate improvement in outcome. Methods and Results— Patients with hypoplastic left heart syndrome, pulmonary atresia intact ventricular septum, single ventricle, and tricuspid atresia born in 1996 to 2003 were identified from the Texas Birth Defects Registry and linked to state and national birth and death vital records. We examined the effects of defect type, birth era, birth weight, gestational age, maternal race/ethnicity, extracardiac anomalies, sex, and maternal age and education on survival. Five-year survival varied by defect type: hypoplastic left heart syndrome, 38.0% (95% confidence interval, 32.6 to 43.5); single ventricle, 56.1% (95% confidence interval, 49.9 to 61.7); pulmonary atresia intact ventricular septum, 55.7% (95% confidence interval, 45.8 to 64.4); and tricuspid atresia, 74.6% (95% confidence interval, 62.4 to 83.4). The presence of extracardiac defects increased the adjusted risk of death by 84%. Non-Hispanic blacks had an adjusted risk of death that was 41% higher than that for non-Hispanic whites, and Hispanics had a 26% higher risk. Patients born in 2001 to 2003 had a 47% lower risk than those born in 1996 to 2000. Conclusions— This population-based study demonstrates significant improvement in overall 5-year survival, particularly in cases of hypoplastic left heart syndrome and single ventricle. Additional studies are needed to determine the factors causing racial/ethnic and regional differences in outcome.

Racial/Ethnic Disparities in Risk of Early Childhood Mortality Among Children With Congenital Heart Defects

BACKGROUND: Infants with congenital heart defects (CHDs) have increased risk of childhood morbidity and mortality. However, little is known about racial/ethnic differences in early childhood mortality. PATIENTS AND METHODS: We conducted a retrospective cohort study with data from the Texas Birth Defect Registry on 19 530 singleton, live-born infants with a CHD and born January 1, 1996, to December 31, 2003, to non-Hispanic (NH) white, NH black, and Hispanic women. Texas Birth Defect Registry data were linked to Texas death records and the National Death Index to ascertain deaths between January 1, 1996, and December 31, 2005. Kaplan-Meier survival estimates were computed, and hazard ratios (HRs) and 95% confidence intervals (CIs) were calculated from multivariable Cox-proportional hazard regression models to determine the effect of maternal race/ethnicity on mortality for selected CHD phenotypes. RESULTS: After adjusting for covariates, compared with NH white children, NH black children had increased early childhood mortality risk for transposition of the great arteries (HR: 2.04 [95% CI: 1.40–2.97]), tetralogy of Fallot (HR: 1.85 [95% CI: 1.09–3.12]), pulmonary valve atresia without ventricular septal defect (VSD) (HR: 2.60 [95% CI: 1.32–5.12]), VSD (HR: 1.56 [95% CI: 1.19–2.03]), and atrial septal defect (HR: 1.34 [95% CI: 1.08–1.66]). Hispanic children had higher mortality risk for pulmonary valve atresia without VSD (HR: 1.76 [95% CI: 1.06–2.91]) and hypoplastic left heart syndrome (HR: 1.51 [95% CI: 1.13–2.02]). CONCLUSIONS: We provide evidence that supports racial/ethnic disparities in early childhood mortality among infants with CHDs. Identifying infants with the greatest risk of early childhood mortality will facilitate development of interventions and policies to mitigate these risks.

Variation in the prevalence of congenital heart defects by maternal race/ethnicity and infant sex.

OBJECTIVE To determine the prevalence of major congenital heart defects (CHD) by ethnicity and sex. STUDY DESIGN Data from the Florida Birth Defects Registry was used to conduct a retrospective cohort study with 8029 singleton infants with 11 CHDs born 1998-2003 to resident non-Hispanic (NH) white, NH-black, and Hispanic women aged 15 to 49. Defect-specific prevalence rates, ratios, and 95% confidence intervals were calculated. Poisson regression was used to calculate adjusted ethnic-specific rate ratios (RR) for each CHD. Statistical significance was P < .0001. RESULTS Compared with NH-whites, NH-black males had significantly increased rates of pulmonary valve atresia/stenosis (RR = 1.66) but lower prevalence of aortic valve atresia/stenosis (RR = 0.33) and ventricular septal defect (VSD; RR = 0.78). Hispanic males had lower rates of aortic valve atresia/stenosis (RR = 0.28), coarctation of the aorta (RR = 0.61) and VSD (RR = 0.79). NH-black females had statistically significantly lower rates of VSD (RR = 0.75), and Hispanic females had lower rates of tetralogy of Fallot (RR = 0.54), VSD (RR = 0.84) and atrioventricular septal defects (RR = 0.53) compared with NH-whites. CONCLUSIONS We found differences in ethnic susceptibilities to CHD by sex, but the cause remains unclear.

Racial/ethnic differences in survival of United States children with birth defects: a population-based study.

OBJECTIVES To examine racial/ethnic-specific survival of children with major birth defects in the US. STUDY DESIGN We pooled data on live births delivered during 1999-2007 with any of 21 birth defects from 12 population-based birth defects surveillance programs. We used the Kaplan-Meier method to calculate cumulative survival probabilities and Cox proportional hazards models to estimate mortality risk. RESULTS For most birth defects, there were small-to-moderate differences in neonatal (<28 days) survival among racial/ethnic groups. However, compared with children born to non-Hispanic white mothers, postneonatal infant (28 days to <1 year) mortality risk was significantly greater among children born to non-Hispanic black mothers for 13 of 21 defects (hazard ratios [HRs] 1.3-2.8) and among children born to Hispanic mothers for 10 of 21 defects (HRs 1.3-1.7). Compared with children born to non-Hispanic white mothers, a significantly increased childhood (≤ 8 years) mortality risk was found among children born to Asian/Pacific Islander mothers for encephalocele (HR 2.6), tetralogy of Fallot, and atrioventricular septal defect (HRs 1.6-1.8) and among children born to American Indian/Alaska Native mothers for encephalocele (HR 2.8), whereas a significantly decreased childhood mortality risk was found among children born to Asian/Pacific Islander mothers for cleft lip with or without cleft palate (HR 0.6). CONCLUSION Children with birth defects born to non-Hispanic black and Hispanic mothers carry a greater risk of mortality well into childhood, especially children with congenital heart defect. Understanding survival differences among racial/ethnic groups provides important information for policy development and service planning.

Effect of Acculturation and Distance From Cardiac Center on Congenital Heart Disease Mortality

BACKGROUND AND OBJECTIVE: Despite improvements in congenital heart disease (CHD) survival over the past 4 decades, ethnic disparities persist. Several studies have shown higher postoperative CHD adjusted mortality in black and Hispanic children. Others noted that non–English-speaking language at home was associated with appointment noncompliance, which the parents attributed to misunderstanding and living too far from a health center. The purpose of this study was to determine the effect of home distance to a cardiac center, or having a Latin American–born parent, on first-year mortality in infants with severe CHD. METHODS: Infants with severe CHD, having an estimated first-year mortality >25%, born 1996–2003, were identified from the Texas Birth Defects Registry and linked to state and national vital records. We examined the effects of defect type; birth weight; gestational age; extracardiac anomalies; infant gender; maternal race/ethnicity, marital status, and education; residence in a Texas county bordering Mexico; home distance to cardiac center; and parental birth country on first-year survival. RESULTS: Overall first-year survival was 59.9%, and no race/ethnic differences were noted; however, survival was significantly (P < .05) lower for Hispanic infants with hypoplastic left heart syndrome. Neither home distance to a cardiac center nor parental birth country was related to first-year survival; however, survival was noted to be lower in Texas counties bordering Mexico, counties that have high rates of poverty. CONCLUSIONS: Further studies are needed to determine if these disparities in survival of infants with severe CHD are attributable to delays in referral to a cardiac center.

Racial/ethnic disparities in timing of death during childhood among children with congenital heart defects

BACKGROUND Infants with congenital heart defects (CHD) have increased risk of morbidity and mortality. Little is known about racial/ethnic differences in timing of death during childhood. Our intent was to investigate racial/ethnic differences in mortality for CHDs during specific time periods in childhood. METHODS Texas Birth Defect Registry data were used for a retrospective cohort study with 30,015 singleton infants with a CHD, born January 1, 1999, to December 31, 2007, to non-Hispanic (NH) white, NH-black, or Hispanic women. Texas Birth Defect Registry data were linked to Texas death records to ascertain death. Kaplan-Meier survival probabilities and multivariable Cox-proportional hazard ratios (HRs) and 95% confidence intervals (CIs) were calculated. RESULTS NH-blacks and Hispanics with specific CHDs had increased mortality during the postneonatal period and early childhood. NH-blacks had increased postneonatal mortality compared with NH-whites for transposition of the great arteries (HR = 2.4; 95% CI, 1.5-4.0), pulmonary valve atresia without ventricular septal defect (HR = 4.1; 95% CI, 1.7-9.7), Ebsteins anomaly (HR = 8.6; 95 CI, 1.2-61.1), hypoplastic left heart syndrome (HR = 2.1; 95% CI, 1.2-3.7), coarctation of the aorta (HR = 2.1; 95% CI, 1.2-3.5), ventricular septal defect (HR = 2.1; 95% CI, 1.6-2.8), and atrial septal defect (HR = 1.4; 95% CI, 1.1-1.8). Hispanics had increased postneonatal mortality risk for tetralogy of Fallot (HR = 2.0; 95% CI, 1.1-3.5). Racial/ethnic increases in mortality risk were also observed during infancy and childhood. CONCLUSION Racial/ethnic differences in mortality were most notably observed during the postneonatal period and early childhood. Future studies should assess factors associated with this disparity in mortality risk for infants with CHDs.

Age at Referral and Mortality From Critical Congenital Heart Disease

BACKGROUND AND OBJECTIVE: Newborn pulse oximetry screening is recommended to promote early referral of neonates with critical congenital heart disease (CCHD) and reduce mortality; however, the impact of late referral on mortality is not well defined. The purpose of this population-based study was to describe the association between timing of referral to a cardiac center and mortality in 2360 liveborn neonates with CCHD. METHODS: Neonates with CCHD born before pulse oximetry screening (1996–2007) were selected from the Texas Birth Defects Registry and linked to state birth and death records. Age at referral was ascertained from date of first cardiac procedure at a cardiac center. Logistic and Cox proportional hazards regression models were used to estimate factors associated with late referral and mortality; the Kaplan-Meier method was used to estimate 3-month survival. RESULTS: Median age at referral was 1 day (25th–75th percentile: 0–6 days). Overall, 27.5% (649 of 2360) were referred after age 4 days and 7.5% (178 of 2360) had no record of referral. Neonatal mortality was 18.1% (277 of 1533) for those referred at 0 to 4 days of age, 9.0% (34 of 379) for those referred at 5 to 27 days of age, and 38.8% (69 of 178) for those with no referral. No improvement in age at referral was found across the 2 eras within 1996–2007. CONCLUSIONS: A significant proportion of neonates with CCHD experienced late or no referral to cardiac specialty centers, accounting for a significant number of the deaths. Future population-based studies are needed to determine the benefit of pulse oximetry screening on mortality and morbidity.