Antenatal Risk of Coarctation for Newborns at Hartford Hospital (ARCH) Pathway: A Predictor of Postnatal Management Strategy.

The diagnosis of coarctation of the aorta (CoA) prior to birth can be challenging due to the physiologic changes during postnatal transition. Prenatal risk stratification can standardize postnatal management and improve outcome. CT Children's Fetal Cardiology created the Antenatal Risk of CoA in Hartford (ARCH) clinical pathway defining four distinct postnatal order sets based on degree of suspicion for ductal dependency on fetal evaluation: low, low-moderate, moderate-high, and high risk. This study aims to evaluate safety and efficacy of the ARCH pathway in neonates with suspected CoA. This study was a single-center, retrospective chart review evaluating maternal-infant dyads with findings concerning for CoA between July 2004 and July 2021, before and after ARCH pathway implementation. Neonates were evaluated for the presence or absence of critical CoA and postnatal clinical data were collected. Statistical analysis was performed using chi square and Fisher's exact test. There were 108 maternal-infant dyads studied, comprising 53 non-pathway patients and 55 ARCH pathway participants. Thirty-three neonates had critical CoA, comprising 23 non-pathway and 10 ARCH pathway subjects. Patients categorized in the high-risk group were highly associated with critical CoA (P = 0.003). Non-pathway neonates with CoA demonstrated higher likelihood of hospital transfer compared to ARCH pathway neonates (56.5% vs. 10.0%, P = 0.021). NICU admission, prostaglandin administration, and intubation were not significantly different between before and after ARCH implementation (P < 0.05). More echocardiograms were performed in ARCH pathway neonates without CoA than their non-pathway counterparts (1.586 vs. 2.133, P = 0.049). The ARCH pathway is a safe, reliable prenatal risk stratification system to help guide management of patients with critical CoA. These results identify effective targets of modification to the pathway to reduce resource utilization without compromising safety.

Life and Death: A Multicenter Study Evaluating Cardiologists' Approach to Difficult Conversations with Fontan Patients and Families.

Outpatient cardiologists provide longitudinal care for Fontan patients. As these patients age, they face mounting morbidities, necessitating challenging conversations about prognosis and goals of care. We created a novel survey to evaluate cardiologists' attitudes surrounding risk counseling for patients/caregivers. Cardiologists were recruited during concomitant outpatient enrollment of individuals with Fontan operation > age 10. Physician demographic data, expectations of timing in discussing adverse event risk, and perceived barriers were collected. Barriers were analyzed using a thematic approach. 40 cardiologists (9 institutions) responded regarding 155 patients (mean age 21.2 years, SD 7.7). Physicians were mostly male (58%) with mean practice of 21 years post-fellowship (SD 12). Most felt the time was right to have a conversation with patient (55%) and family (62%), and majority thought patient (53%) and family (75%) were ready for such a conversation. Most had previously discussed prognosis with patient (72%) and family (75%). Providers were inclined to discuss risk with caregivers earlier (mean patient age 9 years, SD 11) than patients (mean patient age 17 years, SD 6.4). Nevertheless, 42% of physicians perceived significant barriers and provided 58 narrative comments categorized into 4 major themes: (1) Patient-related (53.4%), including cognitive limitations and mental health; (2) Provider-related (16.4%), including lack of familiarity, preservation of happiness, and discomfort; (3) Family related (12.3%), including protection/denial and psychosocial stressors; (4) Other (26%), including social barriers. Experienced cardiologists are willing to have difficult conversations; nearly half reported largely patient-related barriers. Facilitating these conversations is critical for the adolescent/young adult with Fontan physiology.

Maternal Reaction and Psychological Coping After Diagnosis of Congenital Heart Disease.

OBJECTIVES: A diagnosis of congenital heart disease (CHD) during fetal life or infancy can be devastating for parents, resulting in significant psychological stressors. The goals of this study were to (1) assess maternal resolution and adaptation to a new diagnosis of CHD, (2) explore how maternal resolution and adaptation relates to psychological well-being and (3) evaluate whether specific illness parameters impact resolution status. METHODS: This cross-sectional study evaluated resolution to diagnosis in the first 6 months of life for mothers of children with CHD. Mothers completed a Reaction to Diagnosis Interview (RDI) and psychological surveys assessing stress, depression, and coping skills. The RDI invites parents to discuss the diagnosis, changes in their thoughts and feelings since the diagnosis, and reflections on why they think they have a child with a medical condition. A chart review of the child recording illness parameters was also performed. RESULTS: Thirty-six mothers participated in this study. Twelve of their children had a prenatal diagnosis of CHD (33.3%). Seventeen mothers (47.2%) were unresolved to the diagnosis of CHD in their child, regardless of the timing or severity of the diagnosis. Twenty-four participants (68.6%) had significant or highly significant life stress and 9 participants (25.7%) had clinical concerns or met criteria for Post-Traumatic Stress Disorder. Nineteen mothers (55.9%) were at risk for clinical depression. Mothers unresolved to the diagnosis had higher rates of post-traumatic stress than those resolved to the diagnosis (47.1% vs. 10.5%, p = 0.03). Mothers of infants with a prenatal diagnosis of CHD reported significantly lower rates of life stress despite higher severity of heart defects (p = 0.02). CONCLUSIONS FOR PRACTICE: Mothers of infants with CHD have similar proportions of resolution to diagnosis compared to mothers of children with other chronic diseases. They experience a high rate of symptoms of life stress, post-traumatic stress and clinical depression. Symptoms of post-traumatic stress are higher in mothers unresolved to the diagnosis. Identification of those at highest risk for poor adaptation to the diagnosis may allow for targeted psychological support services for those most vulnerable.

A diagnosis of congenital heart disease can result in significant parental stress and negatively impact parental and child bonding. Our study demonstrates that parents of infants with cardiac disease experience high rates of life stress, post-traumatic stress and clinical depression. Mothers unresolved to the diagnosis have higher rates of post-traumatic stress. Those who received a prenatal diagnosis had lower life stress despite greater disease severity. Identification of mothers at highest risk for poor adaptation to the diagnosis may allow for targeted psychological support services for those most vulnerable.

T-Cell Receptor Excision Circles in Newborns with Congenital Heart Disease.

OBJECTIVES: To determine if children with congenital heart disease (CHD) have lower newborn T-cell receptor excision circles (TREC) levels than the general population and to evaluate if low TREC levels in newborns with CHD are associated with clinical complications such as hospitalization for infection. STUDY DESIGN: The Connecticut Newborn Screening Program reported TREC levels for newborns with CHD delivered between October 2011 and September 2016 at 2 major Connecticut children's hospitals. TREC levels for children with CHD were compared with the general population. TREC levels and outcome measures, including hospitalization for infection, were compared. RESULTS: We enrolled 575 participants with CHD in the study. The median TREC level for newborns with CHD was lower than the general population (180.1 copies/µL vs 312.5 copies/µL; P < .01). patients with CHD requiring hospitalization for infection had lower median TREC levels than their counterparts (143.0 copies/µL vs 186.7 copies/µL; P < .01). The combination of prematurity and low TREC level had a strong relationship to hospitalization for infection (area under the receiver operative characteristic curve of 0.89). There was no association between TREC level and CHD severity. CONCLUSIONS: Newborns with CHD demonstrated lower TREC levels than the general population. Low TREC levels were associated with hospitalization for infection in preterm children with CHD. Study limitations include that this was a retrospective chart review. These findings may help to identify newborns with CHD at highest risk for infection, allowing for potential opportunities for intervention.

Adult CHD: the ongoing need for physician counselling about heredity and contraceptive options.

Purpose Current guidelines recommend that patients with CHD receive age-appropriate counselling on reproduction, pregnancy, and risk of heredity. Our aim was to examine patient knowledge of reproductive health and explore the association between patient knowledge of CHD transmission risk and earlier physician counselling in adults with CHD. METHODS: We performed a cross-sectional survey of patients with CHD aged 18 years and older in a paediatric hospital. RESULTS: Of the 100 patients who completed the questionnaire, most did not report counselling on heredity (66%) or contraception (71%). Of the 54 women, 25 (46%) identified their contraceptive options correctly; 42 (78%) women were classified as being at significantly increased risk for an adverse outcome during pregnancy, and of these 20 (48%) identified this risk correctly. Of all patients surveyed, 72% did not know that having CHD placed them at increased risk for having a child with CHD. On multivariate analysis, factors associated with correct knowledge about risk of recurrence were correct identification of CHD diagnosis (p=0.04) and patient-reported counselling (p=0.001). CONCLUSIONS: Knowledge about heredity, pregnancy risk, and contraceptive options is inadequate among adults with CHD followed-up in a paediatric subspecialty clinic. The majority of patients did not report a history of counselling about reproductive health. There is a strong correlation between history of counselling by the patient's cardiologist and correct knowledge about recurrence risk, suggesting that effective reproductive counselling can positively impact this knowledge gap.

The Natural History of Atrioventricular Valve Regurgitation Throughout Fetal Life in Patients with Atrioventricular Canal Defects.

Atrioventricular valve regurgitation (AVVR) influences morbidity and mortality in the atrioventricular canal defect (AVC). Fetal cardiac structures are subject to hemodynamic changes, as well as growth and maturation during gestation, which may alter the degree of AVVR and affect prognosis. We sought to investigate the frequency of change in degree of AVVR documented by fetal echocardiography (echo) between different periods of gestational age. Subjects with AVC seen in the Fetal Heart Program between January 2008 and September 2010 were identified. Degree of AVVR was assessed by color Doppler imaging and categorized as Grade 0 (no AVVR), Grade 1 (hemodynamically insignificant AVVR = trivial or mild), and Grade 2 (hemodynamically important AVVR = ≥moderate). Levels of AVVR between periods were compared. Forty-three fetuses were analyzed. Overall, 60% had no change, 14% had a decrease, and 26% had an increase in AVVR grade. Two fetuses progressed from Grade 0 or 1 to Grade 2, while one fetus decreased from Grade 2 to Grade 0. Trisomy 21 and heterotaxy syndrome were not risk factors for AVVR progression. Transitional and incomplete canal defects may be more susceptible to AVVR progression. Sixty percent of fetuses with AVC will not exhibit progression of AVVR between the second and third trimesters of gestation. In those who exhibit change, it is most often within a hemodynamically insignificant range between none and mild regurgitation (Grades 0 and 1). These findings have implications for the counseling, follow-up, and delivery plans of the fetus with AVC defect.

Development and validation of a fetal cardiovascular disease severity scale.

Prenatal heart disease spans the spectrum of severity from very mild to severe life-threatening conditions. An accepted scale for grading fetal cardiovascular disease severity would aid in anomaly standardization, counseling, and future research. The Fetal Cardiovascular Disease Severity Scale with seven severity grades ranging from mild (grade 1) to severe (grade 7) disease was developed. Severity grade relates to the cardiovascular condition diagnosed by fetal echocardiography, with factors including postnatal intervention, number of interventions anticipated, likelihood of two-ventricle repair versus single-ventricle palliation, and overall prognosis. A survey describing 25 cardiac anomalies was offered to fetal cardiologists at six institutions for validation of scale reliability among practitioners. The study participants graded defects using this scale. A smaller group graded anomalies again more than 2 weeks after the initial survey. The intraclass correlation coefficient (ICC) was used to assess agreement of the respondents. The survey participants were 14 experienced fetal cardiologists: 9 from the Children's Hospital of Philadelphia (CHOP) and 5 from five additional institutions in the United States. The initial survey ICC was high [0.93; 95 % confidence interval (CI) 0.88-0.96]. The subanalysis showed a higher ICC for the participants outside CHOP (0.95; 95 % CI 0.91-0.98 vs. 0.92; 95 % CI 0.86-0.96, respectively). The ICCs were high for all the fetal cardiologists participating in the repeat evaluation, ranging from 0.92 to 0.99 (95 % CI 0.65-1.00). The Fetal Cardiovascular Disease Severity Scale demonstrated good inter- and intrarater reliability among experienced fetal cardiologists and is a valid tool for standardization of prenatal cardiac diagnostic assessment across institutions. The scale has applications for parental counseling and research in fetal cardiovascular disease.

Surveillance and screening practices of New England congenital cardiologists for patients after the Fontan operation.

INTRODUCTION: Surveillance and management guidelines for Fontan patients are lacking due to the paucity of evidence in the literature of screening efficacy on outcome measures. METHODS: The Fontan Working Group within the New England Congenital Cardiology Association designed an electronic survey to assess surveillance practices for patients with Fontan procedures among New England congenital cardiologists and to explore variability in screening low-risk vs high-risk Fontan patients across regional programs. RESULTS: Fifty-six cardiologists representing 12 regional programs responded to the survey, comprising ~40% of the total New England congenital cardiac physicians. The majority of desired testing and consultation was available within 50 miles of the patient's home institution with some limitations of cardiac catheterization and cardiac magnetic resonance imaging availability. Surveillance and screening were less frequent in low-risk Fontan patients compared to high-risk Fontan patients. Counseling practices were similar for both low-risk and high-risk Fontan patients. Aspirin monotherapy was recommended by 82% of providers for low-risk Fontan patients, while anticoagulation regimens were more varied for the high-risk population. Practitioners with ≤15 years of experience were more likely to provide quality of life testing in both low-risk and high-risk Fontan patients. There were no other major differences in testing frequencies by years of practice, quaternary vs nonquaternary care facility, or the number of Fontan patients in a practice. CONCLUSION: This survey provides insight into regional practices of screening and surveillance of Fontan patients. These data may be used to design future research studies and evidence-based guidelines to streamline the approach to manage these complex patients.

An Unusual Case of Commotio Cordis Resulting in Ventricular Flutter.

A 16-year-old male developed palpitations immediately following chest impact with a soccer ball. The patient was noted to have ventricular flutter in a delayed presentation that was successfully treated. While ventricular fibrillation is the predominant arrhythmia following commotio cordis, ventricular flutter may occur as well. Ventricular flutter may be better tolerated in a young athletic individual with structurally normal heart and may lead to a delayed presentation.

Use of integrated imaging and serum biomarker profiles to identify subclinical dysfunction in pediatric cancer patients treated with anthracyclines.

BACKGROUND: Anthracycline induced cardiomyopathy is a major cause of mortality and morbidity among pediatric cancer survivors. It has been postulated that oxidative stress induction and inflammation may play a role in the pathogenesis of this process. Accordingly, the present study performed an assessment of biomarker profiles and functional imaging parameters focused upon potential early determinants of anthracycline induced cardiomyopathy. METHODS: Patients (10-22 years) were prospectively enrolled between January 2013 and November 2014. Thirteen subjects completed the study and underwent serial cardiac magnetic resonance imaging and plasma biomarker profiling performed 24-48 h after the first anthracycline dose and at set dose intervals. In addition, we collected plasma samples from 62 healthy controls to examine normal plasma biomarker profiles. RESULTS: Left ventricular ejection fraction (LVEF) decreased from 64.3 ± 6.2 at the first visit to 57.5 ± 3.3 (p = 0.004) 1 year after chemotherapy. A decline in longitudinal strain magnitude occurred at lower cumulative doses. A differential inflammatory/matrix signature emerged in anthracycline induced cardiomyopathy patients compared to normal including increased interleukin-8 and MMP levels. With longer periods of anthracycline dosing, MMP-7, a marker of macrophage proteolytic activation, increased by 165 ± 54% whereas interleukin-10 an anti-inflammatory marker decreased by 75 ± 13% (both p < 0.05). MMP7 correlated with time dependent changes in EF. CONCLUSIONS: Asymptomatic pediatric patients exposed to anthracycline therapy develop abnormal strain parameters at lower cumulative doses when compared to changes in EF. A differential biomarker signature containing both inflammatory and matrix domains occur early in anthracycline treatment. Dynamic changes in these domains occur with increased anthracycline doses and progression to anthracycline induced cardiomyopathy. These findings provide potential prognostic and mechanistic insights into the natural history of anthracycline induced cardiomyopathy. TRIAL REGISTRATION NUMBER: NCT03211520 Date of Registration February 13, 2017, retrospectively registered.

Feasibility of Echocardiographic Techniques to Detect Subclinical Cancer Therapeutics-Related Cardiac Dysfunction among High-Dose Patients When Compared with Cardiac Magnetic Resonance Imaging.

BACKGROUND: Cardiac magnetic resonance imaging (CMR) is the gold standard for the quantification of global and regional myocardial function and can detect subclinical myocardial dysfunction in anthracycline-induced cardiomyopathy. The aim of this study was to ascertain reliable echocardiographic parameters that can be used for the early identification of cancer therapeutics-related cardiac dysfunction, compared with CMR. METHODS: Fifty-seven pediatric cancer survivors, 10 to 42 years of age, with cumulative anthracycline doses ≥ 200 mg/m(2), were studied with transthoracic echocardiography and CMR 2.4 to 26.9 years after chemotherapy. RESULTS: Three-dimensional echocardiography had the highest sensitivity in identifying subjects with CMR-derived ejection fractions < 55%. Subjects with end-systolic volume index values > 29 mL/m(2) were more likely to have CMR-derived ejection fractions < 55%. Three-dimensional speckle-tracking echocardiographic peak global longitudinal strain magnitude < -17.5% best identified subjects with abnormal peak midwall longitudinal strain magnitude by CMR. A decrease in early atrial myocardial velocity of <10 cm/sec at the interventricular septum also identified subjects with lower average peak midwall longitudinal strain and peak midwall circumferential strain magnitudes by CMR. CONCLUSIONS: Three-dimensional echocardiographic ejection fraction < 55%, end-systolic volume index > 29 mL/m(2), three-dimensional speckle-tracking echocardiographic peak global longitudinal strain magnitude < -17.5%, and a decrease in early atrial myocardial velocity at the interventricular septum of <10 cm/sec by Doppler tissue imaging are the most sensitive transthoracic echocardiographic parameters to identify subjects with subclinical myocardial dysfunction by CMR.

Indications for fetal echocardiography high referral, low yield?

UNLABELLED: An excellent imaging tool in the prenatal diagnosis and ongoing evaluation of congenital heart defects, fetal echocardiography is indicated in a selected population at increased risk compared with the general population. For certain "soft markers" of fetal congenital heart defects, ambiguity in the indications for fetal echo may result in a high referral rate, but low yield of congenital heart disease. Here, we critically examine 4 conditions, 2 maternal and 2 fetal: maternal gestational diabetes, advanced maternal age, isolated echogenic focus, and single umbilical artery. This critical review reveals that more prospective population-based studies with higher power and minimal bias need to be performed to establish the absolute risk of congenital heart defects in a selected population compared with that of the general population. Nonetheless, our analysis indicates that the absolute risk of congenital heart defects associated with each of these markers is low. TARGET AUDIENCE: Obstetricians & Gynecologists, Family Physicians LEARNING OBJECTIVES: After completion of this article, the reader should be able to define which patients should be referred for fetal echocardiography based on known risks, distinguish between relative and absolute risks for fetal congenital heart disease, and summarize fetal anomaly risks for women with altered glucose metabolism.