Prenatal Diagnosis of Congenital Heart Disease: The Crucial Role of Perinatal and Delivery Planning.

Although most congenital heart defects (CHDs) are asymptomatic at birth, certain CHD lesions are at significant risk of severe hemodynamic instability and death if emergent cardiac interventions are not performed in a timely fashion. Therefore, accurate identification of at-risk fetuses and appropriate delivery resource planning according to the degree of anticipated hemodynamic instability is crucial. Fetal echocardiography has increased prenatal CHD detection in recent years due to advancements in ultrasound techniques and improved obstetrical cardiac screening protocols, enabling the prediction of newborns' hemodynamic status. This assessment can guide multidisciplinary resource planning for postnatal care, including selection of delivery site, delivery room management, and transport to a cardiac center based on CHD risk severity. This review will discuss fetal cardiovascular physiology and the circulatory changes that occur at the time of and immediately following birth, outline fetal echocardiographic findings used to risk-stratify newborns with CHDs, and outline principles for neonatal resuscitation and initial transitional care in neonates with these complex CHD lesions.

Diagnosis and Management of Aortic Dissection in a Pediatric Patient With Turner Syndrome: A Simulation.

Aortic dissection is exceedingly rare in the pediatric population. However, it is much more common among children and adolescents with certain underlying syndromes, including Turner syndrome. Furthermore, aortic dissection carries significant mortality without prompt diagnosis and management. Therefore, pediatric emergency providers should know how to recognize and treat pediatric aortic dissection in a patient with Turner syndrome. We designed this simulation for pediatric emergency medicine fellows. A simulated adolescent female patient with a known history of Turner syndrome presents with chest pain, tachycardia, and hypertension. Participants must order and interpret the appropriate diagnostics, diagnose aortic dissection, and manage aortic dissection adequately. This simulation was completed by six pediatric emergency medicine fellows and one pediatric resident. After completing the simulation, six participants (85.7%) provided anonymous feedback on a five-point Likert scale (one = strongly disagree, five = strongly agree). Feedback was positive, and participants agreed that the case content was relevant to their clinical practice and that the event will improve their clinical practice. This simulation encourages participants to recognize and manage pediatric aortic dissection in patients with Turner syndrome. Participants felt that the simulation was relevant and will improve their clinical practice.

Cardiovascular Manifestations of Turner Syndrome: Phenotypic Differences Between Karyotype Subtypes.

Turner syndrome (TS) is a genetic disorder presenting in phenotypic females with total or partial monosomy of the X chromosome. Cardiovascular abnormalities are common, including congenital heart defects (CHD) and aortic dilation. Although mosaic TS is suspected to have less severe phenotype as compared to non-mosaic TS, differences in cardiovascular manifestations between karyotypes are not well studied. This is a single-center retrospective cohort study including patients with TS seen from 2000 to 2022. Demographic data, chromosomal analysis, and imaging were reviewed. Karyotypes were categorized as monosomy X (45X), 45X mosaicism, isochromosome Xq, partial X deletions, ring X (r(X)), TS with Y material, and others. Prevalence of CHD and aortic dilation were compared between monosomy X and other subtypes using Pearson's chi-square test and Welch two-sample t-test. We included 182 TS patients with median age 18 (range 4-33) years. CHD was more common in monosomy X as compared with others (61.4% vs. 26.8%, p < 0.001), including bicuspid aortic valve (44.3% vs. 16.1%, p < 0.001), partial anomalous pulmonary venous return (12.9% vs. 2.7%, p = 0.023), persistent left superior vena cava (12.9% vs. 1.8%, p = 0.008), and coarctation of the aorta (20.0% vs. 4.5%, p = 0.003). Cardiac surgery (24.3% vs. 8.9%, p = 0.017) was more prevalent in the monosomy X group. There was no statistically significant difference for presence of aortic dilation (7.1% vs 1.8%, p = 0.187). Although CHD and need for cardiac surgery are more common in TS with monosomy X as compared to others, all TS subtypes may have similar risk of developing aortic dilation. All TS patients should have similar cardiovascular surveillance testing to monitor for aortic dilation.

Utility of Fetal Echocardiography with Acute Maternal Hyperoxygenation Testing in Assessment of Complex Congenital Heart Defects.

Fetal echocardiography is an excellent tool for accurately assessing the anatomy and physiology of most congenital heart defects (CHDs). Knowledge gathered from a thorough initial fetal echocardiogram and serial assessment assists with appropriate perinatal care planning, resulting in improved postnatal outcomes. However, fetal echocardiography alone provides limited information about the status of the pulmonary vasculature, which can be abnormal in certain complex CHDs with obstructed pulmonary venous flow (hypoplastic left heart syndrome with restrictive atrial septum) or excessive pulmonary artery flow (d-transposition of the great arteries, usually with a restrictive ductus arteriosus). Fetuses with these CHDs are at high risk of developing severe hemodynamic instability with the immediate transition from prenatal to postnatal circulatory physiology at the time of birth. Adjunctive use of acute maternal hyperoxygenation (MH) testing in such cases can help determine pulmonary vascular reactivity in prenatal life and better predict the likelihood of postnatal compromise and the need for emergent intervention. This comprehensive review discusses the findings of studies describing acute MH testing in a diverse spectrum of CHDs and congenital diagnoses with pulmonary hypoplasia. We review historical perspectives, safety profile, commonly used clinical protocols, limitations, and future directions of acute MH testing. We also provide practical tips on setting up MH testing in a fetal echocardiography laboratory.

Incidence, Predictors, and Impact of Postoperative Acute Kidney Injury Following Fontan Conversion Surgery in Young Adult Fontan Survivors.

Acute kidney injury (AKI) is a common complication following single ventricle congenital heart surgery. Data regarding AKI following Fontan conversion (FC) surgery are limited. This study evaluated the incidence, predictors of, and prognostic value of AKI following FC. Single-center retrospective cohort study, including consecutive FC patients from December 1994 to December 2016. Medical records were reviewed. AKI was classified into AKI-1/AKI-2/AKI-3 using Kidney Disease: Improving Global Outcomes criteria. Multivariable logistic regression identified risk factors for AKI≥2. Chi-square and 2-sample t-tests assessed associations between AKI≥2 and postoperative outcomes. Mid-term heart-transplant-free survival among AKI0-1 vs AKI2-3 groups was compared using Kaplan-Meier curves and log-rank test. We included 139 FC patients: age at FC 24 (25th-75th, 19-31) years; 81% initial atrio-pulmonary Fontan; follow-up 8.3 ± 5.3 years following FC. Post-FC, 63 patients (45%) developed AKI (AKI-1 = 37 [27%]; AKI-2 = 10 [7%]; AKI-3 = 16 [11%]). AKI recovered by hospital discharge in 86%, 80%, and 19% of patients with AKI-1/AKI-2/AKI-3, respectively. Independent risk factors for AKI≥2 included older age (OR 1.07, 95%CI 1.01-1.15; P = 0.027); ≥3 prior sternotomies (OR = 6.11; 95%CI = 1.59-23.47; P = 0.009); greater preoperative right atrial pressure (OR 1.19; 1.02-1.38; P = 0.024), and prior catheter ablation procedure (OR 3.45; 1.17-10.18; P = 0.036). AKI≥2 was associated with: longer chest tube duration (9 [5-57] vs 7 [3-28] days; P = 0.01); longer mechanical ventilation time (2 [1-117] vs 1 [1-6] days; P = 0.01); greater need for dialysis (31% v s0%; P < 0.001); and longer postoperative length of stay (18 [8-135] vs 10 [6-58] days; P < 0.001). AKI 2-3 patients had worse mid-term heart-transplant-free survival. Half of the patients undergoing FC develop AKI. AKI 2-3 is associated with worse early postoperative outcomes and reduced mid-term transplant-free survival following FC. Knowledge of AKI predictors may allow for improved FC risk stratification, patient selection, and perioperative management in this high-risk population.

The impact of change in volume and left-ventricular hypertrophy on left-ventricular mechanical dyssynchrony in children with end-stage renal disease.

Left-ventricular dyssynchrony (LVD) adversely affects systolic performance and has not been previously evaluated in children with end-stage renal disease (ESRD). We hypothesized (1) that LVD in children with ESRD would be significantly increased compared with controls and (2) that volume load and left-ventricular hypertrophy (LVH) would be associated with increased LVD. This was a prospective observational study in which real-time three-dimensional echocardiographic data were acquired in 27 stable children with ESRD (13 peritoneal dialysis [PD] and 14 hemodialysis [HD]) and 29 normal controls. Data were acquired before and after an HD session. Dyssynchrony index (SDI) was defined per standard formulae and was normalized to cardiac cycle duration (SDIp). Left-ventricular mass (LVM) was obtained from M-mode echocardiography and was normalized to height(2.7) (LVM index). The mean age (13.8 vs. 11.3 years) and SDI, SDIp, LVM, and LVM index were significantly greater among children with ESRD than among controls (p < 0.05). Demographics and heart rates were comparable between HD and PD subgroups, whereas SDI 16 and 12 segments, SDIp 16 segments, and LVM were significantly greater in the HD group. SDI and SDIp 16 segments improved after an HD session (p < 0.05); LVM and LVM index remained unchanged. LVD was significantly greater in patients with LVH compared with those without LVH. Children with ESRD had significant LVD and increased LVM compared with controls. Increased LVD in those undergoing HD rather than PD, as well as the improvement in synchrony after HD, suggest that volume may modulate LVD. LVD was increased in children with LVH. LVD in children with ESRD may have pathogenic implications.