Nelangi M. Pinto

The Immediate and Long-Term Impact of Pregnancy on Aortic Growth Rate and Mortality in Women With Marfan Syndrome

OBJECTIVESnThe study sought to assess the impact of pregnancy on the rate of aortic growth as well as on short- and long-term clinical outcomes in women with Marfan syndrome.nnnBACKGROUNDnThere is a paucity of data on peripartum and long-term clinical outcomes in women with Marfan syndrome who are followed prospectively during pregnancy.nnnMETHODSnEchocardiographic, demographic, and surgical data review of all adult females with a confirmed diagnosis of Marfan syndrome was performed.nnnRESULTSnOf the 98 women identified, 69 (72%) experienced a total of 199 pregnancies resulting in 170 (86%) live births. The median number of pregnancies per women was 3 (interquartile range: 1 to 12). Obstetrical complications occurred in 17 (10%) and adverse fetal outcomes in 22 (13%). No woman experienced aortic dissection or required cardiac surgery during pregnancy. Aortic growth rate increased during pregnancy and did not return to baseline following pregnancy completion. Despite the lack of catastrophic peripartum complications, the prevalence of both aortic dissection and elective aortic surgery during long-term follow-up was higher in those women who had a prior pregnancy. Risk factors for adverse cardiac outcome included greater aortic diameter, greater rate of aortic growth during pregnancy, increased number of pregnancies, lack of beta-blocker use during pregnancy, and lack of prospective pregnancy follow-up.nnnCONCLUSIONSnThere is a low incidence of aortic complications during pregnancy in women with Marfan syndrome and an aortic diameter <4.5 cm. However, pregnancy does increase the risk of aortic complications in the long-term in this group of patients.

Barriers to prenatal detection of congenital heart disease: a population‐based study

To evaluate the extent and determinants of missed prenatal detection of congenital heart disease (CHD) in a population‐based setting.

22q11.2 Deletion syndrome is associated with perioperative outcome in tetralogy of Fallot

OBJECTIVEnWe sought to investigate the impact of 22q11.2 deletion on perioperative outcome in tetralogy of Fallot.nnnMETHODSnWe conducted a retrospective review of patients with tetralogy of Fallot who underwent complete surgical reconstruction at The Childrens Hospital of Philadelphia between 1995 and 2006. Inclusion criteria included diagnosis of tetralogy of Fallot and known genotype. Fisher exact and Mann-Whitney tests were used for categoric and continuous variables, respectively. Regression analysis was used to determine whether deletion status predicts outcome.nnnRESULTSnWe studied 208 subjects with tetralogy of Fallot, 164 (79%) without and 44 (20%) with 22q11.2 deletion syndrome. There were no differences in sex, race, gestational age, age at diagnosis, admission weight, and duration of mechanical ventilation. Presenting anatomy, survival, complications and reoperations were also comparable between patients with and without 22q11.2 deletion syndrome. Those with 22q11.2 deletion syndrome had more aortopulmonary shunts preceding complete surgical repair (21% vs 7%, Pxa0=xa0.02). This association was present after adjustment for presenting anatomy (stenosis, atresia, or absence of pulmonary valve and common atrioventricular canal) and surgical era. In addition, those with 22q11.2 deletion syndrome had longer cardiopulmonary bypass time (84 vs 72 minutes, Pxa0=xa0.02) and duration of intensive care (6 vs 4 days, Pxa0=xa0.007).nnnCONCLUSIONSnGenotype affects early operative outcomes in tetralogy of Fallot resulting, in particular, in longer duration of intensive care. Future studies are required to determine factors contributing to such differences in this susceptible population.

Anthropometric Measures After Fontan Procedure: Implications for Suboptimal Functional Outcome

BACKGROUNDnAbnormal height and adiposity are observed after the Fontan operation. These abnormalities may be associated with worse functional outcome.nnnMETHODSnWe analyzed data from the National Heart, Lung, and Blood Institute Pediatric Heart Network cross-sectional study of Fontan patients. Groups were defined by height (z-score<-1.5 or≥-1.5) and body mass index (body mass index [BMI] z-score<-1.5 or -1.5 to 1.5 or≥1.5). Associations of anthropometric measures with measurements from clinical testing (exercise, echocardiography, magnetic resonance imaging) were determined adjusting for demographics, anatomy, and pre-Fontan status. Relationships between anthropometric measures and functional health status (FHS) were assessed using the Child Health Questionnaire.nnnRESULTSnMean age of the cohort (n=544) was 11.9±3.4 years. Lower height-z patients (n=124, 23%) were more likely to have pre-Fontan atrioventricular valve regurgitation (P=.029), as well as orthopedic and developmental problems (both P<.001). Lower height-z patients also had lower physical and psychosocial FHS summary scores (both P<.01). Higher BMI-z patients (n=45, 8%) and lower BMI-z patients (n=53, 10%) did not have worse FHS compared to midrange BMI-z patients (n=446, 82%). However, higher BMI-z patients had higher ventricular mass-to-volume ratio (P=.03) and lower % predicted maximum work (P=.004) compared to midrange and lower BMI-z patients.nnnCONCLUSIONSnAbnormal anthropometry is common in Fontan patients. Shorter stature is associated with poorer FHS and non-cardiac problems. Increased adiposity is associated with more ventricular hypertrophy and poorer exercise performance, which may have significant long-term implications in this at-risk population.

Racial and Insurance Disparities in Hospital Mortality for Children Undergoing Congenital Heart Surgery

Many studies of racial and insurance disparities after congenital heart surgery have used limited regional data over short periods. This study examines the association of race and insurance with hospital mortality using a national hospitalization database spanning almost a decade. A retrospective, repeated cross-sectional analysis was performed. All the admissions from the Kids’ Inpatient Database from 1997 through 2006 that fit a Risk Adjustment for Congenital Heart Surgery-1 category were examined. Multivariate logistic regression models examining hospital mortality, nonelective admission, and referral to high-mortality hospitals were constructed. Medicaid insurance [odds ratio (OR) 1.26, 95% confidence interval (CI) 1.09–1.46] and nonwhite race (OR 1.36, 95% CI 1.19–1.54) were independent risk factors for mortality. Furthermore, Medicaid insurance (OR 1.23, 95% CI 1.15–1.31) and nonwhite race (OR 1.26, 95% CI 1.19–1.34) were associated with nonelective admission for congenital heart surgery. Finally, children with Medicaid insurance (OR 1.18, 95% CI 1.10–1.27) and black children (OR 1.30, 95% CI 1.17–1.44) had higher odds of referral to high-mortality hospitals. Over the past decade, children undergoing congenital heart surgery continued to experience admission, referral, and survival disparities based on insurance and racial status.

Lessons Learned From Newborn Screening for Critical Congenital Heart Defects

Newborn screening for critical congenital heart defects (CCHD) was added to the US Recommended Uniform Screening Panel in 2011. Within 4 years, 46 states and the District of Columbia had adopted it into their newborn screening program, leading to CCHD screening being nearly universal in the United States. This rapid adoption occurred while there were still questions about the effectiveness of the recommended screening protocol and barriers to follow-up for infants with a positive screen. In response, the Centers for Disease Control and Prevention partnered with the American Academy of Pediatrics to convene an expert panel between January and September 2015 representing a broad array of primary care, neonatology, pediatric cardiology, nursing, midwifery, public health, and advocacy communities. The panel’s goal was to review current practices in newborn screening for CCHD and to identify opportunities for improvement. In this article, we describe the experience of CCHD screening in the United States with regard to: (1) identifying the target lesions for CCHD screening; (2) optimizing the algorithm for screening; (3) determining state-level challenges to implementation and surveillance of CCHD; (4) educating all stakeholders; (5) performing screening using the proper equipment and in a cost-effective manner; and (6) implementing screening in special settings such as the NICU, out-of-hospital settings, and areas of high altitude.

Cardiac testing and outcomes in infants after an apparent life-threatening event

Objectives We sought to determine the yield of cardiac testing and to identify predictors of cardiac disease in infants with an apparent life-threatening event (ALTE). Design Retrospective longitudinal cohort study. Setting Paediatric hospital providing primary and tertiary care that is part of an integrated healthcare system. Patients Infants hospitalised for an ALTE from 1999 to 2003. Main exposures Cardiac testing used at time of ALTE and results, and clinical risk factors for cardiac disease. Outcome measures Short-term (during hospitalisation) and long-term (through November 2009) follow-up for any diagnosis of significant cardiac anatomic or rhythm abnormality. Results Study criteria were met by 485 infants (mean age 1.9, SD±2.2u2005months; 49% boys). Cardiac testing was performed on 219 (45%) patients during ALTE hospitalisation, identifying two patients with significant cardiac disease (cardiomyopathy, ventricular pre-excitation). During 7.7u2005years of follow-up, three additional significant cardiac diagnoses (ventricular pre-excitation, frequent ventricular ectopy, moderate aortic stenosis) were identified. All cardiac tests had low positive predictive value (PPV). Significant cardiac disease was associated with prematurity (22% vs 80%, p=0.002), but not age, gender, prior ALTE or rescue breaths. Conclusions This longitudinal study of an ALTE cohort revealed significant cardiac disease in <1% of patients. Prematurity was the only clinical predictor identified. ECG was sensitive for identifying significant cardiac disease, but routine testing warrants further investigation because of the low PPV.

Durability of Truncal Valve Repair

BACKGROUNDnTruncus arteriosus associated with truncal valve dysfunction has been shown to increase the mortality and morbidity associated with repair and the various techniques employed for truncal valve repair continue to evolve. We sought to examine the durability of truncal valve repair in truncus arteriosus.nnnMETHODSnWe reviewed all patients who underwent truncal valve repair at our institution from 1995 to 2008. Repair techniques included leaflet delamination, bicuspidization, commissuroplasty, annuloplasty, and leaflet augmentation. We examined long-term valve durability, function and need for valve replacement.nnnRESULTSnA total of 17 patients underwent truncal valve repair, including 3 for predominant stenosis (>70 mm Hg gradient), 2 for mixed moderate stenosis (40 mm Hg gradient) and moderate regurgitation, and 12 for moderate or greater regurgitation. Of these, 14 patients (14 of 17, 82%) underwent valvuloplasty at the time of the initial truncus arteriosus repair. The median age at truncal valve repair was 24 days (range, 4 days to 42 years). Thirteen patients had 1 valvuloplasty, 3 patients had 2 valvuloplasties, and 1 patient had 3 valvuloplasties before undergoing a prosthetic valve replacement at age 13 years. Actuarial freedom from repeat truncal valve operation was 70% at 5 years and 50% at 7 years. Freedom from truncal valve replacement was 100% at 10 years. To date, only 1 patient (6%) has required a prosthetic valve. Echocardiography at 48 ± 33 (mean ± SD) months postoperatively showed a peak gradient of 11 ± 13 mm Hg; 6 patients have moderate regurgitation, and the rest have mild or less regurgitation.nnnCONCLUSIONSnTruncal valve repair is a durable option with an acceptable reoperation rate, good function, and a low likelihood of needing truncal valve replacement. This is one of the largest series of truncal valve repairs and emphasizes that valve repair should remain the primary option.

Surgical Volume, Hospital Quality, and Hospitalization Cost in Congenital Heart Surgery in the United States

Hospital volume has been associated with improved outcomes in congenital cardiac surgery. However, the relationship between hospital volume and hospitalization cost remains unclear. This study examines the relationship between hospital surgical volume and hospitalization costs, while accounting for measures of quality, in children undergoing congenital heart surgery. A retrospective, repeated cross-sectional analysis was performed, usingxa0discharges from the 2006 and 2009 Kids’ Inpatient Database. All pediatric admissions (<18xa0years) with a Risk Adjustment for Congenital Heart Surgery procedure and hospitalization cost/charge data were included. Multivariate, linear mixed regression models were run on hospitalization costs, with and without adjustment for indicators of quality (hospital mortality rate and complication rate). Both medium and high-volume hospitals (200–400 cases/year andxa0>400 cases/year, respectively) were associated with lower odds of mortality but not occurrence of a complication. Hospital mortality was associated with the largest increase in hospitalization costs. High-volume hospitals (>400 cases/year) were associated with the lowest hospitalization costs per discharge (

Cost‐effectiveness of prenatal screening strategies for congenital heart disease

37,775, pxa0<xa00.01) when compared to low-(