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Objective: Families who receive a prenatal diagnosis of complex congenital heart disease (cCHD) often experience severe psychological distress and identify uncertainty as a key source of that distress. This study examined clinician-family conversations during initial fetal cardiology consultations to identify the topics of uncertainty discussed. Methods: In this observational, qualitative study, initial fetal cardiology consultations were audio-recorded, transcribed verbatim, and coded by two independent coders. A codebook was inductively and deductively developed and applied. This content analysis focused on uncertainty-related codes and associated themes. Results: During 19 consultations including five clinicians, 13 different cardiac diagnoses were discussed (seven with high mortality risk). Median consultation length was 37 min (IQR: 26–51), with only 11% of words spoken by families. On average, 51% of total words spoken focused on uncertainty in relation to cardiac diagnosis, etiology, comorbidities, prognosis, childbirth, therapeutics, and logistics. Family-initiated discussion on uncertainty largely focused on childbirth and pregnancy and postpartum logistics. Conclusions: Half of dialogue within initial fetal cardiology encounters discussed uncertainty surrounding prenatally diagnosed cCHD. Parent and clinician perspectives should be gathered on the essential content and optimal delivery of uncertainty-related topics. Innovation: This study is conceptually and methodologically innovative as one of the first to examine audio-recorded dialogue between fetal cardiology clinicians and families.

Collaborative multicenter research has significantly increased our understanding of fetal Ebstein anomaly, delineating risk factors for adverse outcomes as well as predictors of postnatal management. These data are incorporated into prenatal care and therapeutic strategies and inform family counseling and delivery planning to optimize care. This report details the translation of findings from multicenter studies into multidisciplinary prenatal care for a fetus with Ebstein anomaly, supraventricular tachycardia, and a circular shunt, including transplacental therapy to control arrhythmias and achieve ductal constriction, informed and coordinated delivery room management, and planned univentricular surgical palliation.

The way clinicians communicate with parents during pregnancy about congenital heart disease (CHD) can significantly influence parental understanding of and psychological response to the diagnosis. A necessary first step to improving communication used in fetal cardiology consultations is to understand and describe the language currently used, which this paper aims to do. Nineteen initial fetal cardiology consultations with parents were audio-recorded, transcribed verbatim, and coded by two independent coders. A codebook was inductively developed and applied to all transcripts. The finalized coding was used to characterize fetal cardiologists’ language. We identified four discourse styles employed in fetal cardiology consultations: small talk, medical, plain, and person-centered. Plain language was used to define and emphasize the meaning of medical language. Person-centered language was used to emphasize the baby as a whole person. Each consultation included all four discourse styles, with plain and medical used most frequently. Person-centered was used less frequently and mostly occurred near the end of the encounters; whether this is the ideal balance of discourse styles is unknown. Clinicians also used person-centered language (as opposed to disease-centered language), which is recommended by medical societies. Future studies should investigate the ideal balance of discourse styles and the effects of clinician discourse styles on family outcomes, including parents’ decision-making, psychological adjustment, and quality of life.

Background Tetralogy of Fallot with absent pulmonary valve is associated with high mortality, but it remains difficult to predict outcomes prenatally. We aimed to identify risk factors for mortality in a large multicenter cohort. Methods and Results Fetal echocardiograms and clinical data from 19 centers over a 10‐year period were collected. Primary outcome measures included fetal demise and overall mortality. Of 100 fetuses, pregnancy termination/postnatal nonintervention was elected in 22. Of 78 with intention to treat, 7 (9%) died in utero and 21 (27%) died postnatally. With median follow‐up of 32.9 months, no deaths occurred after 13 months. Of 80 fetuses with genetic testing, 46% had chromosomal abnormalities, with 22q11.2 deletion in 35%. On last fetal echocardiogram, at a median of 34.6 weeks, left ventricular dysfunction independently predicted fetal demise (odds ratio [OR], 7.4; 95% CI 1.3, 43.0; P=0.026). Right ventricular dysfunction independently predicted overall mortality in multivariate analysis (OR, 7.9; 95% CI 2.1–30.0; P=0.002). Earlier gestational age at delivery, mediastinal shift, left ventricular/right ventricular dilation, left ventricular dysfunction, tricuspid regurgitation, and Doppler abnormalities were associated with fetal and postnatal mortality, although few tended to progress throughout gestation on serial evaluation. Pulmonary artery diameters did not correlate with outcomes. Conclusions Perinatal mortality in tetralogy of Fallot with absent pulmonary valve remains high, with overall survival of 64% in fetuses with intention to treat. Right ventricular dysfunction independently predicts overall mortality. Left ventricular dysfunction predicts fetal mortality and may influence prenatal management and delivery planning. Mediastinal shift may reflect secondary effects of airway obstruction and abnormal lung development and is associated with increased mortality.

Background: Turner syndrome (TS) is associated with left-sided cardiac lesions, including hypoplastic left heart syndrome (HLHS). Mortality as high as 80–90% has been reported following stage I single-ventricle palliation (S1P) in patients with TS and HLHS (TS + HLHS). The specific factors that relate to poor outcomes are not well understood. Methods: This is a single-center, retrospective cohort study that includes 197 patients with HLHS who underwent S1P between 2008 and 2022. The clinical outcomes and interstage hemodynamics of TS + HLHS patients (N = 11) were compared with HLHS without TS (TS-HLHS), (N = 186). Results: Of the 11 TS + HLHS patients, 10 underwent S1P; 4 underwent Glenn and 1 had hemodynamics considered prohibitive for Glenn; only 1 survived to Fontan palliation. Post-S1P mortality was higher in TS + HLHS (60 v 25%, p = 0.017). Following S1P, TS + HLHS had higher rates of postoperative ECMO (70 v 28%, p = 0.006), surgical necrotizing enterocolitis (20 v 3%, p = 0.007), peritoneal drain placement (70 v 31%, p = 0.012), urinary tract infection (30 v 9%, p = 0.035), and ICU readmissions (median 5 v 1, p = 0.035). Interstage hemodynamics demonstrated higher right ventricular end diastolic, (11 v 8mmHg, p = 0.033), mean pulmonary artery (20 v 13mmHg) (p = 0.002), and left atrial pressures (9 v 6mmHg, p = 0.047) in TS + HLHS. Conclusion: High mortality rates are described in TS + HLHS patients following S1P. In our cohort, despite most surviving more than 30 days post-S1P, long-term survival remained poor. Interstage catheterization data suggest poor physiologic candidacy for subsequent stages of single-ventricle palliation. Understanding the clinical and hemodynamic factors related to poor outcomes in TS + HLHS will help inform management for this population. [ABSTRACT FROM AUTHOR]

Background In a recent multicenter study of perinatal outcome in fetuses with Ebstein anomaly or tricuspid valve dysplasia, we found that one third of live‐born patients died before hospital discharge. We sought to further describe postnatal management strategies and to define risk factors for neonatal mortality and circulatory outcome at discharge. Methods and Results This 23‐center, retrospective study from 2005 to 2011 included 243 fetuses with Ebstein anomaly or tricuspid valve dysplasia. Among live‐born patients, clinical and echocardiographic factors were evaluated for association with neonatal mortality and palliated versus biventricular circulation at discharge. Of 176 live‐born patients, 7 received comfort care, 11 died

Holt–Oram syndrome or atriodigital dysplasia is commonly associated with cardiac malformations, most often with defects of the muscular septum. We describe the case of a fetus referred for fetal cardiology evaluation in the setting of right atrial enlargement without tricuspid valve abnormalities with small muscular VSDs, and without other significant cardiac lesions. On serial fetal echocardiograms, isolated right atrial enlargement was persistent as was relative fetal bradycardia without apparent AV block or other signs of abnormal conduction. Limb or other anatomic abnormalities were also not visualized on prenatal scans. A postnatal diagnosis of Holt–Oram Syndrome was made. In the setting of isolated right atrial enlargement, we suggest a comprehensive sonographic search for upper limb abnormalities as well as genetic evaluation. Key points: What's already known about this topic?TBX5 mutations are associated with atriodigital dysplasia, or Holt‐Oram syndrome, which result in cardiac and limb abnormalities. What does this study add?We report a novel TBX5 mutation that resulted in a fetal phenotype of isolated right atrial enlargement.In the setting of unexplained RA enlargement, careful ultrasound evaluation of the limbs and genetic assessment should be considered. [ABSTRACT FROM AUTHOR]

Objective: Coronary artery abnormalities (CA) occur in patients with hypoplastic left heart syndrome (HLHS) and may be associated with higher mortality and heart transplantation (HT). We aimed to determine whether fetuses with HLHS and prenatal CA have a higher risk of death or HT. Methods: We performed a retrospective review of fetal echocardiograms with HLHS from 2011 to 2018. We excluded fetuses with ventricular septal defects, elective termination, death in utero, planned postnatal non‐intervention, or absent follow‐up data. Presence or absence of CA was determined by review of serial fetal echocardiograms. Survival analysis was used to evaluate the relationship between prenatal CA and death or HT. Results: Of 86 patients with fetal HLHS, 11 had prenatal diagnosis of CA. Of these, six required HT and five died (one after undergoing HT); only one remains alive without HT. Of those without prenatal CA (n = 75), 25 died and 7 underwent HT. Patients with prenatal diagnosis of HLHS and CA had a significantly increased likelihood of death or HT (p‐value <0.05). Conclusion: Prenatal diagnosis of CA in our cohort of patients with HLHS was associated with increased risk of death or HT. These data have significance for prenatal counseling and postnatal management. Key points: What is already known about this topic? Patients with hypoplastic left heart syndrome (HLHS) may have coronary artery abnormalities that place them at a higher risk for death or heart transplantation.Coronary artery abnormalities have been identified prenatally in some fetuses with HLHS though the incidence and significance of these findings has not been explored. What does this study add? Fetuses with HLHS and suspected coronary artery abnormalities in our cohort had an increased likelihood of heart transplantation, which has significance for prenatal counseling and postnatal management. [ABSTRACT FROM AUTHOR]

Objectives: Ebstein anomaly and tricuspid valve dysplasia (EA/TVD) carry high perinatal mortality. Past studies have focused on cardiac predictors of mortality; we sought to describe the fetal echo (FE) extracardiac Dopplers in this cohort and determine their association with perinatal mortality. Method: Fetuses with EA/TVD at 23 centers from 2005–2011 were included for retrospective study. Doppler pattern and velocity of the umbilical artery (UA), umbilical vein (UV), ductus venosus (DV), and middle cerebral artery (MCA) were collected. Bivariate and multivariate analyzes were performed. The primary outcome measure was perinatal mortality, defined as fetal demise or neonatal death. Results: Of 190 cases that met eligibility criteria, alterations were seen in 50% of UA, 16% of UV, 48% of DV, and 8% of MCA Doppler indices on the last FE (median 27.4 weeks). Independent predictors of perinatal mortality included abnormal UA Doppler pattern of absence or reversed end diastolic flow (OR 9.7) and UV velocity z score <1 (OR 2.5), in addition to diagnosis <32 weeks (OR 4.2) and tricuspid valve (TV) annulus z score ≥6 (OR 5.3). Conclusion: Abnormal UA Doppler pattern and decreased UV velocity are independent predictors of perinatal mortality in EA/TVD fetuses and should be used to refine mortality risk and guide perinatal management. [ABSTRACT FROM AUTHOR]

Communication with parents during pregnancy about complex congenital heart disease (CHD) can significantly influence parental understanding of, and psychological responses to, the diagnosis. Fetal cardiac consultations provide an important opportunity to optimize this communication. Prior research suggests words clinicians use to describe CHD, such as "heart difference" rather than "heart defect", may be important to parents. However, little is known about the language used in fetal cardiac consultations. Initial fetal cardiology consultations with parents for potentially complex CHD were audio-recorded, transcribed verbatim, and coded by two independent coders. A codebook was inductively developed and applied to all transcripts. Coding differences were adjudicated to full agreement. The final coding framework was used to identify communication patterns and themes. In the 19 audio-recorded consultations across five fetal cardiology clinicians at one academic institution, 14 different cardiac diagnoses were discussed (seven with low and seven with high risk of mortality). We identified three themes for language used to describe CHD: medical, plain, and patient-centered language. Each consultation utilized all three types of language with plain language used most frequently. Plain language often was used to define and emphasize the meaning behind medical language. While less frequently used, patient-centered language emphasized the child as a whole person with value and worth beyond their heart condition. Fetal cardiology clinicians in our study used plain language to define and describe medical language for parents. They employed patient-centered language to center counseling on the child rather than the pathology. Similar clinician language may help familiarize and empower parents with the tools to understand their child's condition and communicate with their medical team. Future research should focus on clinicians' communication intentions and the consequences of their language use on parents' decision-making, psychological adjustment, mental health, and quality of life outcomes. [ABSTRACT FROM AUTHOR]

A member of the Tennessee state legislature recently proposed a bill that would mandate all newborn infants to undergo pulse oximetry screening for the purpose of identifying those with critical structural heart disease before discharge home. The Tennessee Task Force on Screening Newborn Infants for Critical Congenital Heart Defects was convened on September 29, 2005. This group reviewed the current medical literature on this topic, as well as data obtained from the Tennessee Department of Health, and debated the merits and potential detriments of a statewide screening program. The estimated incidence of critical congenital heart disease is 170 in 100 000 live births, and of those, 60 in 100 000 infants have ductal-dependent left-sided obstructive lesions with the potential of presentation by shock or death if the diagnosis is missed. Of the latter group, the diagnosis is missed in ~9 in 100 000 by fetal ultrasound assessment and discharge examination and might be identified by a screening program. Identification of the missed diagnosis in these infants before discharge could spare many of them death or neurologic sequelae. Four major studies using pulse oximetry screening were analyzed, and when data were restricted to critical left-sided obstructive lesions, sensitivity values of 0% to 50% and false-positive rates of between 0.01% and 12% were found in asymptomatic populations. Because of this variability and other considerations, a meaningful cost/ benefit analysis could not be performed. It was the consensus of the task force to provide a recommendation to the legislature that mandatory screening not be implemented at this time. In addition, we determined that a very large, prospective, perhaps multistate study is needed to define the sensitivity and false-positive rates of lower-limb pulse oximetry screening in the asymptomatic newborn population and that there needs to be continued partnering between the medical community, parents, and local, state, and national governments in decisions regarding mandated medical care. KEY WORDS. critical congenital heart disease, screening, pulse oximetry, hypoplastic left heart syndrome. URL: www.pediatrics.org/cgi/doi/10.1542/peds.2005-3061

Describes the group A β-hemolytic Streptococcus (GABHS) endocarditis that occurred in a five-month-old infant following varicella and reviewed cases of childhood infective endocarditis caused by GABHS. Details of the case report; Clinical characteristics of children with GABHS endocarditis; Primary sources of GABHS bacteremia in children; Risk factors.

1. Describe aspects of uncertainty that are introduced during an initial fetal cardiology consultation for prenatal diagnosis of complex congenital heart disease. 2. Recognize the importance of uncertainty in initial conversations between clinicians and parents during initial fetal cardiology consultations for prenatal diagnosis of complex congenital heart disease. Parents who receive a prenatal diagnosis of complex congenital heart disease (cCHD) experience severe psychological distress and identify uncertainties as key sources of that distress. Previous literature defined illness uncertainty as the cognitive experience when illness-related events are unclear and described three domains, including unpredictability, complexity, and lack of information. To explore the relationship between clinician-parent communication and illness uncertainty, this study examined initial fetal cardiology consultation conversations to describe when and how uncertainty was communicated. In this observational, qualitative study, initial fetal cardiology consultations were audio-recorded, transcribed verbatim, and coded by two independent coders. A codebook was inductively developed to code content and communication approaches (e.g., turn-taking, framing). Coding differences were adjudicated to full agreement. For this analysis, we focused on codes evoking uncertainty (e.g., "we don't know," "things can change") and identified associated topics. During 19 audio-recorded consultations including five fetal cardiology clinicians, 13 different cardiac diagnoses were discussed (six with low and seven with high risk of mortality). The average consultation length was 39 minutes, with 89% of words spoken by the clinician. Clinicians introduced most uncertainties discussed, which included seven identified topics: diagnosis, etiology, co-morbidities, prognosis, birth, logistics, and therapeutics. On average, 50% of words spoken during a consultation related to uncertainty within these topics, which were most commonly diagnosis, prognosis, and therapeutics (e.g., as one clinician said, "I'm not sure we will know [details of the diagnosis] for sure until after he's born"). Uncertainties raised by parents were largely focused on birth and logistics. Half of dialogue within initial fetal cardiology encounters included uncertainties inherent to prenatally diagnosed cCHD. Given the known association between illness uncertainty and parental psychological distress, approaches to support communication during fetal cardiology consultations could help parents adjust to their child's diagnosis of serious illness. [ABSTRACT FROM AUTHOR]

Presents a patient in whom the combination of pulse oximetry and end-tidal carbon dioxide (ETCO2) monitoring helped to determine the etiology of a cardiorespiratory arrest during transesophageal echocardiography (TEE). ETCO2 as a valuable adjunct to other monitors during sedation; Factors that alter the correlation between end-tidal and arterial carbon dioxide.

We report a 4-month-old girl who presented with poor ventricular function and was found to have occlusion of the left main coronary artery os by a tethered aortic cusp. The patient underwent surgical delamination of the aortic valve leaflet, revealing a normal left coronary os. After operative repair, her left ventricular function improved significantly. This diagnosis should be included in the differential in all children presenting with cardiac dysfunction. [Copyright &y& Elsevier]

Abstract: Increased pulmonary artery pressure (PAP) can complicate the postoperative care of children undergoing surgical repair of congenital heart defects. Endogenous NO regulates PAP and is derived from arginine supplied by the urea cycle. The rate-limiting step in the urea cycle is catalyzed by a mitochondrial enzyme, carbamoyl-phosphate synthetase I (CPSI). A well-characterized polymorphism in the gene encoding CPSI (T1405N) has previously been implicated in neonatal pulmonary hypertension. A consecutive modeling cohort of children (N =131) with congenital heart defects requiring surgery was prospectively evaluated to determine key factors associated with increased postoperative PAP, defined as a mean PAP>20 mmHg for at least 1h during the 48h following surgery measured by an indwelling pulmonary artery catheter. Multiple dimensionality reduction (MDR) was used to both internally validate observations and develop optimal two-variable through five-variable models that were tested prospectively in a validation cohort (N =41). Unconditional logistic regression analysis of the modeling cohort revealed that age (OR=0.92, p =0.01), CPSI T1405N genotype (AC vs. AA: OR=4.08, p =0.04, CC vs. AA: OR=5.96, p =0.01), and Down syndrome (OR=5.25, p =0.04) were independent predictors of this complex phenotype. MDR predicted that the best two-variable model consisted of age and CPSI T1405N genotype (p <0.001). This two-variable model correctly predicted 73% of the outcomes from the validation cohort. A five-variable model that added race, gender and Down’s syndrome was not significantly better than the two-variable model. In conclusion, the CPSI T1405N genotype appears to be an important new factor in predicting susceptibility to increased PAP following surgical repair of congenital cardiac defects in children. [Copyright &y& Elsevier]