Patient-reported barriers to prenatal diagnosis of congenital heart defects: A mixed-methods study.

OBJECTIVE: To ascertain patient-reported, modifiable barriers to prenatal diagnosis of congenital heart defects (CHDs). METHODS: This was a mixed-methods study among caretakers of infants who received congenital heart surgery from 2019 to 2020 in the Chicagoland area. Quantitative variables measuring sociodemographic characteristics and prenatal care utilization, and qualitative data pertaining to patient-reported barriers to prenatal diagnosis were collected from electronic health records and semi-structured phone surveys. Thematic analysis was performed using a convergent parallel approach. RESULTS: In total, 160 caretakers completed the survey, 438 were eligible for survey, and 49 (31%) received prenatal care during the COVID-19 pandemic. When comparing respondents and non-respondents, there was a lower prevalence of maternal Hispanic ethnicity and a higher prevalence of non-English/Spanish-speaking households. Of all respondents, 34% reported an undetected CHD on ultrasound or echocardiogram, while 79% reported at least one barrier to prenatal diagnosis related to social determinants of health. Among those social barriers, the most common were difficulty with appointment scheduling (n = 12, 9.5%), far distance to care/lack of access to transportation (n = 12, 9.5%) and difficulty getting time off work to attend appointments (n = 6, 4.8%). The latter two barriers were correlated. CONCLUSION: While technical improvements in the detection of CHDs remain an important area of research, it is equally critical to produce evidence for interventions that mitigate barriers to prenatal diagnosis due to social determinants of health.

Incidence of Fetal Arrhythmia Before and During the COVID-19 Pandemic: A Single-Center Experience.

Fetal arrhythmias are rare and carry significant morbidity and mortality without appropriate treatment. Initial reports exist of fetal arrhythmia in the setting of maternal COVID-19 infection. Our study sought to evaluate incidence of fetal arrhythmia before and during the COVID-19 pandemic at our institution. This retrospective cohort study from a tertiary care fetal cardiac center utilized the institutional REDCap database to search fetal arrhythmia diagnostic codes. Medical records of mother-fetus dyads were reviewed and data were collected on diagnoses, gestational age, treatment regimen, and postnatal outcomes. Patients were divided into pre-COVID and peri-COVID segments. 8368 total pregnancies were evaluated during the 7.3 years of study period. Forty-five patients (0.5%) had a significant fetal arrhythmia and were included in this study: 19 (42%) in the pre-COVID-19 group and 26 (58%) in the peri-COVID-19 group. No patients had associated congenital heart disease. There was a notable increase in the incidence of fetal supraventricular tachycardia (SVT) (1.82 per 1000 vs 2.65 per 1000 pregnancies) and complete heart block (1.04 per 1000 vs 1.77 per 1000 pregnancies) but no apparent change in other tachyarrhythmias during the COVID era. The proportion of antibody-mediated complete heart block increased from 50 to 87.5%. There was also an increase in the percentage of SVT patients requiring postnatal treatment during COVID-19 (53.8% vs 62.5%). Our experience shows an increased incidence of some fetal arrhythmia diagnoses during the COVID-19 pandemic. Additional multi-center studies will be necessary to fully evaluate the increased burden of fetal arrhythmias during the COVID-19 era as well as to elucidate etiology.

Tricuspid Atresia with Absent Pulmonary Valve with Nearly Discontinuous Branch Pulmonary Arteries.

Absent pulmonary valve with tricuspid atresia or tricuspid stenosis (APV-TA/TS) is an extremely rare congenital heart defect associated with significant morbidity and mortality. Compared to Tetralogy of Fallot with Absent Pulmonary Valve Syndrome, branch pulmonary arteries are not typically significantly dilated. We present the case of a newborn male prenatally diagnosed APV-TA with intact ventricular septum (IVS) and nearly discontinuous branch pulmonary arteries, the surgical strategy employed, and the salient hemodynamic factors considered in the medical decision-making.

Burden with No Benefit: Prior Authorization in Congenital Cardiology.

Prior authorization is a process that health insurance companies use to determine if a patient's health insurance will cover certain medical treatments, procedures, or medications. Prior authorization requests are common in adult congenital and pediatric cardiology (ACPC) due to need for advanced diagnostics, complex procedures, disease-specific medications, and the heterogeneity of the ACPC population. Prior authorizations in ACPC are rarely denied, but nonetheless, they are often accompanied by significant administrative burden on clinical care teams and delays in patient care. Prior authorizations have been implicated in worsening care inequities. The prior authorization process is insurer specific with differences between commercial and public insurers. Prior authorization rejections were previously found to be more common for women, racial minorities, those with low education, and in low-income groups. Prior authorization unduly burdens routine diagnostics, routine interventional and surgical procedures, and routine cardiac specific medication use in the ACPC population. This manuscript highlights the burdens of prior authorization and advocates for the elimination of prior authorization for ACPC patients.

Perspectives of Challenges in Counseling for Congenital Heart Defects.

Prior work regarding counseling patients about congenital heart defects (CHD) has focused on their perceptions about accurate communication of cardiac anatomy, and the emotional support received from the provider. The objectives of this study were to identify the additional CHD counseling-specific challenges and areas for future intervention, using a practical communication framework. This is a secondary analysis of qualitative data provided by caretakers of infants who received congenital heart surgery from 2019 to 2020 in the Chicagoland area. While the survey in the primary study pertained to barriers in obtaining prenatal diagnosis, respondents with both prenatal and postnatal diagnosis reported challenges to effective counseling. Qualitative data measuring counseling challenges were collected from semi-structured phone interviews. Thematic analysis was performed using an inductive approach. Themes were organized into five domains using SPIKES (Setting, Perception, Invitation, Knowledge, Empathy, and Summarize/Strategy), a previously validated framework to help clinicians effectively break bad news. Among 160 survey respondents, 35 (21.9%) reported a challenge during CHD counseling that they received. In total, 12 challenges were identified and spanned all six SPIKES domains. The three most common challenges were as follows: perception of repeated imaging studies for accurate diagnosis or management (n = 19, Knowledge), the lack of cardiologist presence at the time of initial CHD detection (n = 8, Setting), and insufficient information provided about the CHD diagnosis (n = 7, Knowledge). Patients perceive counseling as a key component of prenatal diagnosis of CHD and identify the challenges that exist at all stages of the counseling process. These findings suggest that effective counseling extends beyond conveying information about anatomy and prognosis.

Contemporary Provider Management Practices and Attitudes Toward Referral for Advanced Heart Failure Therapies in Fontan Patients Across North America.

BACKGROUND: To date, no reports have described clinicians' management practices for patients with Fontan circulatory failure or their understanding of risk factors for mortality and transplant outcomes in these patients. METHODS AND RESULTS: A cross-sectional survey of caregivers across North America was conducted from February to September 2020. Responses were compared by primary specialty (heart failure/transplant vs non-heart failure/transplant), years of experience (early, mid, and late career), and Fontan center volume (low, medium, and high). Of 400 responses, the majority were from general cardiologists (111, 28%) followed by heart failure/transplant specialists (93, 23%). Although most agreed that patients with Fontan physiology will have signs/symptoms of heart failure (369 [93%]) and eventuate in heart transplant (286 [72%]), many disagreed (180 [45%]) that routine evaluation by a transplant cardiologist is needed without symptoms. Transplant providers were more likely than non-transplant providers to suggest referral for manifestations of Fontan circulatory failure such as protein-losing enteropathy, plastic bronchitis, liver fibrosis/cirrhosis, and worsening valve regurgitation. Non-transplant providers were more likely to suggest that protein-losing enteropathy, plastic bronchitis, and Fontan-associated liver disease lead to inferior outcomes after transplantation. Early career and transplant providers more favorably viewed ventricular assist device use for Fontan patients failing traditional heart failure therapy (P < .05 for all). CONCLUSIONS: There is significant variation in the management of Fontan patients, including heterogeneous timing of referral of such patients to the heart failure/transplant team, which may have implications for future outcomes.

Parents' decision-making for their foetus or neonate with a severe congenital heart defect.

BACKGROUND: Parents who receive a diagnosis of a severe, life-threatening CHD for their foetus or neonate face a complex and stressful decision between termination, palliative care, or surgery. Understanding how parents make this initial treatment decision is critical for developing interventions to improve counselling for these families. METHODS: We conducted focus groups in four academic medical centres across the United States of America with a purposive sample of parents who chose termination, palliative care, or surgery for their foetus or neonate diagnosed with severe CHD. RESULTS: Ten focus groups were conducted with 56 parents (Mage = 34 years; 80% female; 89% White). Results were constructed around three domains: decision-making approaches; values and beliefs; and decision-making challenges. Parents discussed varying approaches to making the decision, ranging from relying on their "gut feeling" to desiring statistics and probabilities. Religious and spiritual beliefs often guided the decision to not terminate the pregnancy. Quality of life was an important consideration, including how each option would impact the child (e.g., pain or discomfort, cognitive and physical abilities) and their family (e.g., care for other children, marriage, and career). Parents reported inconsistent communication of options by clinicians and challenges related to time constraints for making a decision and difficulty in processing information when distressed. CONCLUSION: This study offers important insights that can be used to design interventions to improve decision support and family-centred care in clinical practice.

Provider insights on shared decision-making with families affected by CHD.

BACKGROUND AND OBJECTIVES: Little data exist on provider perspectives about counselling and shared decision-making for complex CHD, ways to support and improve the process, and barriers to effective communication. The goal of this qualitative study was to determine providers' perspectives regarding factors that are integral to shared decision-making with parents faced with complex CHD in their fetus or newborn; and barriers and facilitators to engaging in effective shared decision-making. METHODS: We conducted semi-structured interviews with providers from different areas of practice who care for fetuses and/or children with CHD. Providers were recruited from four geographically diverse centres. Interviews were recorded, transcribed, and analysed for key themes using an open coding process with a grounded theory approach. RESULTS: Interviews were conducted with 31 providers; paediatric cardiologists (n = 7) were the largest group represented, followed by nurses (n = 6) and palliative care providers (n = 5). Key barriers to communication with parents that providers identified included variability among providers themselves, factors that influenced parental comprehension or understanding, discrepant expectations, circumstantial barriers, and trust/relationship with providers. When discussing informational needs of parents, providers focused on comprehensive short- and long-term outcomes, quality of life, and breadth and depth that aligned with parental goals and needs. In discussing resources to support shared decision-making, providers emphasised the need for comprehensive, up-to-date information that was accessible to parents of varying situations and backgrounds. CONCLUSIONS: Provider perspectives on decision-making with families with CHD highlighted key communication issues, informational priorities, and components of decision support that can enhance shared decision-making.

Variability in clinical decision-making for ventricular assist device implantation in pediatrics.

BACKGROUND: Minimal data exist on clinical decision-making in VAD implantation in pediatrics. This study aims to identify areas of consensus/variability among pediatric VAD physicians in determining eligibility and factors that guide decision-making. METHODS: An 88-item survey with clinical vignettes was sent to 132 pediatric HT cardiologists and surgeons at 37 centers. Summary statistics are presented for the variables assessed. RESULTS: Total respondents were 65 (72% cardiologists, 28% surgeons) whose centers implanted 1-5 (34%), 6-10 (40%), or >10 (26%) VADs in the past year. Consensus varied by patients' age, diagnosis, and Pedimacs profile. Highest agreement to offer VAD (97%) was a mechanically ventilated teenager with dilated cardiomyopathy. Patients stable on inotropes were less likely offered VAD (11%-25%). SV infant with Pedimacs profile 2 had the most varied responses: 37% offered VAD; estimated survival ranged from 15% to 90%. Variables considered for VAD eligibility included mild developmental delays (100% offered VAD), moderate-severe behavioral concerns (46%), cancer in remission >2 years (100%), active malignancy with good prognosis (68%) or uncertain prognosis (36%), and BMI >35 (74%) or <15 (69%). Most respondents (91%) would consider destination therapy VADs in pediatrics, though not currently feasible at 1/3 of centers. Factors with greatest influence on decision-making included HT candidacy, families' goals of care, and risks of complications. CONCLUSIONS: Significant variation exists among pediatric VAD physicians when determining VAD eligibility and estimating survival, which can lead to differences in access to emerging technologies across institutions. Further work is needed to understand and mitigate these differences.

Fetal diagnosis of KCNQ1-variant long QT syndrome using fetal echocardiography and magnetocardiography.

A pregnant woman with KCNQ1 variant long QT syndrome (LQTS) underwent fetal magnetocardiography (fMCG) after atrioventricular (AV) block was noted during fetal echocardiogram-atypical for LQTS type 1. Concern for fetal LQTS on fMCG prompted monitoring of maternal labs, change of maternal beta blocker therapy, and frequent fetal echocardiograms. Collaboration between obstetricians, neonatologists, and pediatric cardiologists ensured safe delivery. Beta blocker therapy was initiated after birth, and postnatal evaluation confirmed genotype and phenotype positive LQTS in the infant. Our experience suggests diagnosis and evaluation of fetal LQTS can alter antenatal management to reduce risk of poor fetal and postnatal outcomes.

Pediatric Cardiology Specialist's Opinions Toward the Acceptability of Comfort Care for Congenital Heart Disease.

In order to evaluate physicians' willingness to seek legal action to mandate surgery when parents refuse surgery for various congenital heart lesions, we surveyed pediatric cardiologists and cardiovascular surgeons at 4 children's hospitals. We asked whether physicians would support parental refusal of surgery for specific heart defects and, if not, whether they would seek legal action to mandate surgery. We then analyzed associations between physicians' willingness to mandate surgery and national operative mortality rates for each lesion. We surveyed 126 cardiologists and 9 cardiac surgeons at four tertiary referral centers. Overall response rate was 77%. Greater than 70% of physicians would seek legal action and mandate surgery for the following lesions: ventricular septal defect, coarctation of the aorta, complete atrioventricular canal, transposition of the great arteries, tetralogy of Fallot, and unobstructed total anomalous pulmonary venous return. Surgery for all of these lesions has reported mortality rates of < 5%. Physicians were less likely to seek legal action when parents refused surgery for Shone complex, any single ventricle lesion, or any congenital heart disease accompanied by Trisomy 13 or Trisomy 18. Among experts in pediatric cardiology, there is widespread agreement about the appropriate response to parental refusal of surgery for most congenital heart lesions, and these lesions tended to be heart defects with lower surgical mortality rates. Lesions for which there was greater consensus among experts were those with the best outcomes. There was less consensus for lesions with higher mortality rates. Such surveys, revealing disagreement among expert professionals, can provide an operational definition of the current professional "gray zone" in which parental preferences should determine treatment.

Practice Variations in Pediatric Echocardiography Laboratories.

Quantification guidelines for pediatric echocardiograms were published in 2010 establishing consensus regarding standard measurements. However, a standard protocol for performance and analysis of pediatric echocardiograms was not defined. This study aims to identify practice variations among pediatric laboratories. A survey was sent to 85 North American pediatric laboratory directors. The survey included 29 questions assessing: demographics, methods of image acquisition, parameters routinely evaluated and reported, and methods used to assess chamber sizes, valves, and ventricular function. There were 47/85 (55%) responses; 83% were academic centers and 77% in an urban setting. Wide variations exist in acquisition method (clips versus sweeps) and color scale settings. The most commonly used methods for left ventricular (LV) function are M-mode shortening fraction, qualitative assessment, and Doppler Tissue Imaging. The most commonly used parameter for right ventricular function is qualitative. LV mass is routinely measured by the majority of centers with variations in methods of calculation. Conversely, while a minority measure left atrial volume, there is consensus regarding the preferred method. While multiple techniques exist for assessing valves, qualitative assessment is reported to be the preferred method. Despite quantification guidelines, there is a lack of uniformity in performance and analysis of pediatric echocardiograms. Further studies are needed to determine why variations exist and whether development of consensus guidelines might improve interpretation, consistency and quality of reports, patient care, and provide a standardized system allowing for comparative research among centers.

Variations in Criteria and Practices for Heart Transplantation Listing Among Pediatric Transplant Cardiologists.

Ethical issues in pediatric heart transplantation (Htx) include resource allocation, benefit, and burden assessment in high-risk recipients, and informed consent. Practice patterns and decision-making was investigated using an internet survey with 47-multiple choice items and vignette-based questions. Of 43 pediatric Htx cardiologists contacted, 28 (65%) responded. Respondents reported that an overall median 1-month survival of 73% (range 50-100%), 1-year survival of 70% (range 50-85%), 5-year survival of 50% (range 40-85%), and 10-year survival of 50% (range 25-85%) was adequate to offer Htx. Based on vignettes presented, 100% of those surveyed would offer Htx to a straightforward 12-year old with end-stage dilated cardiomyopathy and a 7-year old with hypoplastic left heart syndrome with protein losing enteropathy. Thirty percent of physicians would offer Htx to a patient status post a Fontan procedure with mutliple co-morbidities. Seventy-five percent of physicians would offer Htx despite proven non-adherence. Considerable variability exists in the practice patterns of pediatric heart transplant cardiologists with regards to decision-making while evaluating patients for listing. Disagreements among pediatric Htx cardiologists exist when there are concerns for non-adherence and associated multiple co-morbidities. Further work is needed to understand these variations and develop consensus for pediatric Htx organ allocation.

Giant coronary artery aneurysms in an infant with Kawasaki disease: Evaluation by echocardiography and computed tomographic angiography.

Kawasaki disease (KD) is a vasculitis that affects medium-sized arteries and can lead to coronary artery aneurysms. KD should be considered in any infant presenting with prolonged fever. Delaying treatment beyond Day 10 of fever portends a high risk of coronary artery aneurysms. Echocardiography is often necessary to diagnose KD in young infants who frequently present without classic physical examination findings. We report on a case of KD with giant aneurysms in a 2-month-old infant. A combination of transthoracic echocardiography and CT angiography was utilized in the diagnosis as well as in the management of this infant.

Total anomalous pulmonary venous connection (TAPVC): A familial cluster of 3 siblings.

Total anomalous pulmonary venous connection (TAPVC) is a rare form of cyanotic congenital heart disease (CHD) that occurs when the pulmonary veins drain into a site other than the morphologic left atrium. As with other forms of CHD, TAPVC has been shown to cluster in families and is known to have genetic association. We report on a case series of familial TAPVC in three consecutive siblings. A combination of fetal echocardiography, transthoracic echocardiography, as well as cross-sectional imaging was utilized in the diagnosis as well as management of each sibling. The third sibling was subsequently found to have a partial deletion in chromosome 15q13.3, which has been rarely associated with other forms of congenital heart disease.

A survey of paediatricians on the use of electrocardiogram for pre-participation sports screening.

Aim The aim of the present study was to determine general paediatrician knowledge, practices, and attitudes towards electrocardiogram (ECG) screening in school athletes during pre-participation screening exam (PPSE). METHODS: Paediatricians affiliated with a tertiary children's hospital completed a survey about ECGs for PPSE. RESULTS: In total, 205/498 (41%) responded; 92% of the paediatricians did not include an ECG as part of PPSE; 56% were aware of a case in which a student athlete in their own community had died of sudden unexplained death; 4% had an athlete in their practice die. Only 16% of paediatricians perform all 12 American Heart Association recommended elements of the PPSE. If any of these screening elements are abnormal, 69% obtain an ECG, 36% an echocardiogram, and 30% restrict patients from sports activity; 73% of them refer the patient to a cardiologist. CONCLUSION: Most of the general paediatricians surveyed did not currently perform ECGs for PPSE. In addition, there was a low rate of adherence to performing the 12 screening elements recommended by the American Heart Association. They have trouble obtaining timely, accurate ECG interpretations, worry about potential unnecessary exercise restrictions, and cost-effectiveness. The practical hurdles to ECG implementation emphasise the need for a fresh look at PPSE, and not just ECG screening. Improvements in ECG performance/interpretation would be necessary for ECGs to be a useful part of PPSE.

Ethical Considerations in Fetal Cardiology.

Fetal cardiology has evolved over the last 40 years and changed the timing of diagnosis and counseling of congenital heart disease, decision-making, planning for treatment at birth, and predicting future surgery from the postnatal to the prenatal period. Ethical issues in fetal cardiology transect multiple aspects of biomedical ethics including improvement in prenatal detection and diagnostic capabilities, access to equitable comprehensive care that preserves a pregnant person's right to make decisions, access to all reproductive options, informed consent, complexity in shared decision-making, and appropriate use of fetal cardiac interventions. This paper first reviews the literature and then provides an ethical analysis of accurate and timely diagnosis, equitable delivery of care, prenatal counseling and shared decision-making, and innovation through in utero intervention.

Fulminant Clostridium difficile toxic megacolon in a pediatric heart transplant recipient.

CD can be a cause of diarrhea in pediatric heart transplant recipients. Fulminant colitis can develop in immunocompromised patients with CD and progress to toxic megacolon. We report a case of a 10-yr-old girl who developed CD diarrhea and subsequently fulminant colitis with clinical signs and symptoms of abdominal compartment syndrome. She was taken to the operating room emergently and found to have toxic megacolon. She underwent a sub-total abdominal colectomy and end-ileostomy, and made a rapid recovery. Rapid recognition of the severity of the disease in the post-operative transplant patient is imperative as abdominal compartment syndrome may develop requiring surgical management. In pediatric heart transplant patients with diarrhea, we recommend a heightened clinical awareness with aggressive treatment given the risk of progression to fulminant CD and toxic megacolon.