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.

Social determinants of health and outcomes for children and adults with congenital heart disease: a systematic review.

BACKGROUND: Social determinants of health (SDH) can substantially impact health outcomes. A systematic review, however, has never been conducted on associations of SDH with congenital heart disease (CHD) outcomes. The aim, therefore, was to conduct such a systematic review. METHODS: Seven databases were searched through May 2020 to identify articles on SDH associations with CHD. SDH examined included poverty, uninsurance, housing instability, parental educational attainment, immigration status, food insecurity, and transportation barriers. Studies were independently selected and coded by two researchers based on the PICO statement. RESULTS: The search generated 3992 citations; 88 were included in the final database. SDH were significantly associated with a lower likelihood of fetal CHD diagnosis, higher CHD incidence and prevalence, increased infant mortality, adverse post-surgical outcomes (including hospital readmission and death), decreased healthcare access (including missed appointments, no shows, and loss to follow-up), impaired neurodevelopmental outcomes (including IQ and school performance) and quality of life, and adverse outcomes for adults with CHD (including endocarditis, hospitalization, and death). CONCLUSIONS: SDH are associated with a wide range of adverse outcomes for fetuses, children, and adults with CHD. SDH screening and referral to appropriate services has the potential to improve outcomes for CHD patients across the lifespan. IMPACT: Social determinants of health (SDH) are associated with a wide range of adverse outcomes for fetuses, children, and adults with congenital heart disease (CHD). This is the first systematic review (to our knowledge) on associations of SDH with congenital heart disease CHD outcomes. SDH screening and referral to appropriate services has the potential to improve outcomes for CHD patients across the lifespan.

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.

Two Cases of a Prenatally Diagnosed Double Aortic Arch with Postnatal Obliteration of the Distal Left Aortic Arch.

We report two cases of prenatally diagnosed double aortic arch with dominant right arch and a left-sided ductus arteriosus, consistent with a complete vascular ring. Postnatal transthoracic echocardiogram and cardiac magnetic resonance imaging demonstrated a spontaneous closure of the ductus arteriosus and obliteration of the left aortic arch distal to the origin of the left subclavian artery in both cases. Spontaneous closure of the ductus arteriosus involving extended ductal tissue in the left aortic arch likely led to obliteration of the distal left arch after birth. One patient presented with recurrent symptoms suggestive of dysphagia and underwent a successful surgical repair of the vascular ring with resolution of symptoms. The other patient has been asymptomatic and is 4 years old at the time of this report.

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.

How Good Are Cardiologists at Predicting Major Adverse Events in Fontan Patients?

Background: It is unknown how well cardiologists predict which Fontan patients are at risk for major adverse events (MAEs). Objectives: The purpose of this study was to examine the accuracy of cardiologists' ability to identify the "good Fontan" patient, free from MAE within the following year, and compare that predicted risk cohort to patients who experienced MAE. Methods: This prospective, multicenter study included patients ≥10 years with lateral tunnel or extracardiac Fontan. The cardiologist was asked the yes/no "surprise" question: would you be surprised if your patient has a MAE in the next year? After 12 months, the cardiologist was surveyed to assess MAE. Agreement between cardiologist predictions of MAE and observed MAE was determined using the simple kappa coefficient. Multivariable generalized linear mixed effects models were performed to identify factors associated with MAE. Results: Overall, 146 patients were enrolled, and 99/146 (68%) patients w`ere predicted to be a "good Fontan." After 12 months, 17 (12%) experienced a MAE. The simple kappa coefficient of cardiologists' prediction was 0.17 (95% CI: 0.02-0.32), suggesting prediction of MAE was 17% better than random chance. In the multivariable cardiologist-predicted MAE (N = 47) model, diuretic/beta-blocker use (P ≤ 0.001) and systolic dysfunction (P = 0.005) were associated with MAE. In the observed multivariable MAE (N = 17) model, prior unplanned cardiac admission (P = 0.006), diuretic/beta-blocker use (P = 0.028), and ≥moderate atrioventricular valve regurgitation (P = 0.049) were associated with MAE. Conclusions: Cardiologists are marginally able to predict which Fontan patients are at risk for MAE over a year. There was overlap between factors associated with a cardiologist's prediction of risk and observed MAE, namely the use of diuretic/beta-blocker.

Atrioventricular valve regurgitation in the fetus with atrioventricular canal defect: transition from prenatal to postnatal life.

Atrioventricular valve regurgitation (AVVR) is a clinically important element of the common atrioventricular canal defect. Cardiac preload and afterload increase from prenatal to postnatal life. These hemodynamic changes may increase the degree of regurgitation and affect management and prognosis. We sought to investigate the frequency of change in degree of AVVR from fetal to postnatal life in this patient population. Subjects who underwent both fetal and postnatal echocardiography within 4 weeks of life between January 2008 and September 2010 were included in the study. Degree of AVVR was assessed by color Doppler imaging and scored as 0 (no regurgitation), 1 (hemodynamically insignificant regurgitation), and 2 (hemodynamically important regurgitation). Forty-nine subjects were included. Mean gestational age at fetal echocardiogram was 34 ± 2.8 weeks; age at postnatal echocardiogram was a median of <24 h of age (range 0-24). After birth, 69 % subjects had no change, 8 % of subjects had a decrease, and 22 % subjects had an increase in AVVR grade. Five patients progressed from a fetal score 0 or 1 to postnatal score 2. Neither trisomy 21 nor heterotaxy syndrome were risk factors for progression of AVVR. In patients with AV canal defects, 90 % demonstrate no hemodynamically significant change in AVVR from fetal to postnatal life, whereas 10 % display a hemodynamically significant change. AVVR appreciated in utero is predictive of neonatal regurgitation in the majority of patients. These findings have implications for the counseling and management of the fetus with AV canal defect.

Contemporary Outcomes in Tetralogy of Fallot With Absent Pulmonary Valve After Fetal Diagnosis.

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.

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.