A text messaging intervention and quality of life in adolescents with solid organ transplants.

BACKGROUND: Facilitating communication between adolescents and HCP outside of appointments may enhance patient experience and outcomes. The purpose of this study was to determine whether SMS enhances the healthcare experience, QoL, and medication adherence in adolescent SOT patients. METHODS: This was a prospective observational study of an SMS platform (WelTel Inc) for SOT patients aged 12-19 years. QoL was assessed before and after using the PedsQL™ Transplant Module. Medication adherence was assessed with the frequency of therapeutic tacrolimus levels and variation based on control chart analysis. Patient experience and engagement was evaluated with surveys, response rate to messages, and number of clinical conversations (>2 messages). RESULTS: Twenty-three patients were included (median age 15.7 years (IQR 13.6-17.1)). Median intervention duration was 13.5 months (range 4.0-16.7 months). There was a 68% response rate (742/1095) with 375 clinical conversations. The majority of patients reported the intervention provided a positive outlook on their health (17/23), was useful (18/23), and improved their connection to HCPs (17/23). Following the intervention, there was no significant difference in the median scaled QoL scores (pre-intervention: 81 (IQR 76.5-93.3), post-intervention: 78 (IQR 76-93); p = .37), mean percentage of therapeutic tacrolimus levels (pre-intervention: 52 ± 25%, post-intervention: 65 ± 17%; p = .07), or variation on control chart analysis of tacrolimus levels. CONCLUSIONS: The WelTel messaging platform provided supplemental clinical care for a group of adolescent SOT patients that enhanced their healthcare experience. Patient QoL and adherence were unchanged following the intervention and remained at a high level.

Epidemiology of cardiac surgery-associated acute kidney injury in neonates: a retrospective study.

BACKGROUND: Cardiac surgery is a known risk factor for acute kidney injury (AKI) in children. However, cardiac surgery-associated AKI (CS-AKI) in neonates has not been well studied. The objectives of this study were: (1) to describe the epidemiology of CS-AKI in neonates utilizing the Acute Kidney Injury Network (AKIN) definition, (2) to identify risk factors for neonatal CS-AKI, and (3) to determine if neonatal CS-AKI is associated with increased morbidity and mortality. METHODS: This was a retrospective study involving 122 neonates (≤28 days) undergoing cardiac surgery from 2006 to 2009. Neonates with and without AKI were identified using serum creatinine (SCr) and urine output (UO) data. RESULTS: Cardiac surgery-AKI occurred in 76 (62 %) neonates, of whom 22 (29 %) were AKIN stage 1, 19 (25 %) were stage 2, and 35 (46 %) were stage 3. AKI mostly occurred early as 75 % of patients achieved their maximal AKIN stage within the first 48 h post-operatively. In the multivariate analysis, cardiopulmonary bypass duration of ≥120 min was independently associated with AKI [odds ratio (OR) 2.53, 95 % confidence interval (CI) 1.03-6.30]. Severe AKI (AKIN stage 3) was independently associated with mortality (OR 6.70, 95 % CI 1.08-41.50) and a longer stay in the pediatric intensive care unit (hazard ratio 9.09, 95 % CI 1.35-60.95). The majority of severe AKI cases (65 %) were identified with AKIN UO criteria alone without significant rises in SCr. CONCLUSIONS: Cardiac surgery-AKI is common in neonates when the AKIN definition is utilized and is associated with higher morbidity and mortality, especially in those with more severe AKI.

Left ventricle pseudoaneurysm after aortic valvuloplasty.

Acquired left ventricular aneurysm is extremely rare in children. This report describes an infant with acquired left ventricular aneurysm after percutaneous aortic balloon valvuloplasty for critical aortic stenosis. The potential risk factors for myocardial injury during cardiac catheterization and potential complications are discussed.

Serial measurements of exercise performance in pediatric heart transplant patients using stress echocardiography.

Heart transplantation is an increasingly acceptable therapeutic option for children with end-stage and complex congenital heart disease. With advances in surgery, immunosuppression, and follow-up care, functional outcomes need to be evaluated. We report the results of serial exercise testing performed using stress echocardiography in a cohort of pediatric HTP. HTP (n = 7) exercised on a semi-recumbent ergometer to volitional fatigue. Echocardiography-Doppler measurements, HR, and blood pressure were taken at rest and during staged exercise. Results were compared with healthy CON (n = 12). HTP did significantly less work during exercise (940 vs. 1218 J/kg, p < 0.03). Their SVI (33 vs. 49 mL/m(2), p < 0.003), CI (5.16 vs. 9.25 L/min/m(2), p < 0.0005), and HR (162 vs. 185 bpm, p < 0.02) were lower at peak exercise. HTP had a lower SF at peak exercise (48% vs. 52%, p < 0.03) and an abnormal relationship between the MVCFc and σPS. During follow-up, hemodynamics and left ventricular function remained relatively constant in HTP. HTP are able to exercise safely; however, their exercise tolerance is reduced, and hemodynamics and contractility are diminished. Over time, their hemodynamics and left ventricular function have remained relatively constant.

Arrhythmic Mitral Valve Prolapse and Mitral Annulus Disjunction in Heritable Aortic Disease.

Patients with heritable aortic disease (HAD) have an increased risk of ventricular arrhythmias and sudden cardiac death. Although mitral valve prolapse is common in HAD, mitral annulus disjunction (MAD) has only recently been described in these patients. This under-recognized condition may be a contributing factor to otherwise unexplained ventricular arrhythmias and sudden cardiac death in patients with HAD. This case series describes 3 patients in an adult HAD clinic who have concomitant mitral valve prolapse, MAD, and malignant arrhythmias. These cases may represent a unique disease entity or overlap syndrome, and they introduce MAD as a potential arrhythmogenic risk marker in HAD.

Les patients atteints de maladie aortique héréditaire (MAH) présentent un risque accru d'arythmie ventriculaire et de mort subite d'origine cardiaque. Bien que le prolapsus valvulaire mitral soit fréquent dans les cas de MAH, la disjonction annulaire mitrale (DAM) n'a été décrite que récemment chez ces patients. Cet état méconnu peut être un facteur contribuant à des arythmies ventriculaires autrement inexpliquées et à la mort subite d'origine cardiaque chez les patients atteints de MAH. Cette série de cas décrit trois patients d'une clinique de MAH pour adultes qui présentent un prolapsus valvulaire mitral, une DAM et des arythmies malignes en concomitance. Ces cas peuvent représenter une entité morbide unique ou un syndrome de chevauchement, et laissent entendre que la DAM pourrait être un nouveau marqueur du risque arythmogène associé à la MAH.

Increasing age and atrial arrhythmias are associated with increased thromboembolic events in a young cohort of adults with repaired tetralogy of Fallot.

BACKGROUND: Adults with repaired Tetralogy of Fallot (rTOF) comprise one of the largest cohorts among adults with congenital heart disease (ACHD). These patients have a higher burden of atrial arrhythmias (AA), leading to increased adverse events, including stroke and transient ischemic attack (TIA). However, the data on factors associated with stroke/TIA in rTOF are limited, and classic risk factors may not apply. We studied event rates and associated factors for thromboembolism in a rTOF cohort. METHODS: Retrospective cohort study of all adult patients age >18 years with rTOF followed at a single ACHD tertiary care center. AA of interest were atrial fibrillation (AF) and atrial flutter (AFL). RESULTS: Data from 260 patients were identified, mean age 37.6 SD 13.3 years, followed over 5108 patient-years (mean 16.6 SD 8.2 years). 43 patients had AF and/or AFL, and 30 patients had thromboembolic events, of which 19 patients had stroke/TIA. The event rate for any thromboembolism was 3.39 per 100 patient-years follow-up in patients with AA, compared to 1.80 in patients without (P = .07). In univariate analysis, older age and diabetes were associated with thromboembolic events. In multivariate analysis, only older age was associated with thromboembolic events. CONCLUSIONS: In our relatively young cohort of adults with rTOF, there was a high prevalence of AA, associated with nearly double the rate of thromboembolic events compared to patients without AA. Older age alone is independently associated with thromboembolic events. Further studies into assessment of silent AA are required, and routine assessments should be considered at an earlier age.

A case of horseshoe lung and complex congenital heart disease in a term newborn.

We describe and illustrate a rare association of hypoplastic left heart syndrome, absent hilar left pulmonary artery, and an unusual bronchopulmonary malformation. This case highlights the utility of combination imaging of echocardiography and CT angiography in diagnosing a cyanotic newborn with a chest radiograph that is suspicious for lung hypoplasia.

Atrial arrhythmias and thromboembolic complications in adults post Fontan surgery.

OBJECTIVE: Patients with Fontan surgery experience late complications in adulthood. We studied the factors associated with the development and maintenance of atrial arrhythmias and thromboembolic complications in an adult population with univentricuar physiology post Fontan surgery. METHODS: Single centre retrospective cohort study of patients ≥18 years of age with Fontan circulation followed at our quaternary care centre for more than 1 year were included. Univariate and multivariate regression models were used where applicable to ascertain clinically significant associations between risk factors and complications. RESULTS: 93 patients were included (age 30.2±8.8 years, 58% men). 28 (30%) had atriopulmonary Fontan connection, 35 (37.6%) had lateral tunnel Fontan and 29 (31.1%) had extracardiac Fontan pathway. After a mean of 7.27±5.1 years, atrial arrhythmia was noted in 37 patients (39.8%), of which 13 developed had atrial fibrillation (14%). The presence of atrial arrhythmia was associated with the number of prior cardiac surgeries/procedures, increasing age and prior atriopulmonary Fontan operation. Thromboembolic events were present in 31 patients (33%); among them 14 had stroke (45%), 3 had transient ischaemic attack (9.7%), 7 had pulmonary embolism (22.6%) and 5 had atrial thrombus with imaging (16.1%). The presence of thromboembolic events was only associated with age and the presence of cirrhosis in multivariate analysis. CONCLUSIONS: Atrial arrhythmias are common in adults with Fontan circulation at an early age, and are associated with prior surgical history and increasing age. Traditional risk factors may not be associated with atrial arrhythmia or thromboembolism in this cohort.

Adults With Complex Congenital Heart Disease: Cerebrovascular Considerations for the Neurologist.

As infant and childhood mortality has decreased in congenital heart disease, this population is increasingly reaching adulthood. Adults with congenital heart disease (ACHD) represent a group with increased risk of stroke, silent brain infarcts, and vascular cognitive impairment. Cyanotic and other complex cardiac lesions confer the greatest risk of these cerebrovascular insults. ACHD patients, in addition to having an increased risk of stroke from structural cardiac issues and associated physiological changes, may have an accelerated burden of conventional vascular risk factors, including hypertension and impaired glucose metabolism. Adult neurologists should be aware of the risks of clinically evident and subclinical cerebrovascular disease in this population. We review the existing evidence on primary and secondary stroke prevention in individuals with complex congenital heart disease, and identify knowledge gaps in need of further research, including treatment of acute stroke in this population. Multisystemic genetic syndromes are outside the scope of this review.

Clinical Importance of Fontan Circuit Thrombus in the Adult Population: Significant Association With Increased Risk of Cardiovascular Events.

BACKGROUND: The impact of Fontan circuit thrombus is poorly understood. The objectives of this study were to determine (1) the incidence of Fontan circuit thrombus and proportion of silent thrombus; (2) any association between Fontan circuit thrombus and markers of Fontan circulatory dysfunction; and (3) the association of Fontan circuit thrombus with adverse cardiac outcomes. METHODS: We conducted a retrospective review of adult patients who underwent the Fontan procedure (aged > 18 years) followed at St. Paul's Hospital who underwent cardiac computed tomography or magnetic resonance imaging assessment (n = 67). Fontan circulatory dysfunction markers included clinical heart failure, N-terminal pro-brain natriuretic peptide, ventricular dysfunction, atrioventricular valvular regurgitation, refractory arrhythmias, declining exercise capacity, and hepatic/renal dysfunction. Adverse cardiac outcomes were death, heart transplantation, or surgery for Fontan revision or atrioventricular valve replacement. RESULTS: Fontan circuit thrombus was present in 15 of 67 patients (22%): 41% (7/17) classic/modified Fontan and 16% (8/50) total cavopulmonary connection. Incidence was 36% among those suspected to have Fontan circuit thrombus; 14% in those with no clinical/echocardiographic suspicion; and clinically silent in 40% diagnosed with Fontan thrombus. The time from Fontan surgery to Fontan circuit thrombus diagnosis was 22 ± 6 years in the classic/modified group vs 14 ± 8 years in the total cavopulmonary connection group (P = 0.03. Fontan circuit thrombus was associated with adverse cardiac outcomes (27% [4/15] vs 8% [4/52], P = 0.02), but there was no difference in Fontan circulatory dysfunction markers. CONCLUSION: Given the incidence of Fontan circuit thrombus and association with adverse cardiac outcomes, routine surveillance of the Fontan circuit should strongly be considered. The identification of thrombus should lead to anticoagulation implementation/optimization, along with screening/intervention for reversible Fontan circulatory issues in an attempt to prevent adverse cardiac outcomes.

Outcomes related to respiratory syncytial virus with an abbreviated palivizumab regimen in children with congenital heart disease: a descriptive analysis.

BACKGROUND: It has been hypothesized that 4 doses of palivizumab, a neutralizing monoclonal antibody against respiratory syncytial virus (RSV), administered during a fixed-date RSV season may reduce hospital admissions comparably to the standard 5-dose schedule. We report outcomes in children with congenital heart disease approved to receive this 4-dose palivizumab schedule in British Columbia. METHODS: We performed a population-based descriptive cohort analysis of all 406 approved palivizumab courses over 4 seasons (2012/13 to 2015/16) in 325 children with hemodynamically significant congenital heart disease enrolled in the British Columbia RSV Immunoprophylaxis Program. The primary outcome was in-season hospital admission for potential RSV-related lower respiratory tract infection (LRTI). Secondary outcomes include timing of admission in relation to dosing. Analysis was by intention-to-treat. RESULTS: Of the 406 approved palivizumab courses, 391 were administered. In 33 cases (8.4%), an additional dose was given immediately after cardiac bypass surgery. There were 17 RSV-confirmed hospital admissions (median age of children 5.9 mo [interquartile range 4-10 mo]) and 8 admissions in which the child was not tested for RSV, for a maximum of 25 potential RSV-related admissions (6.2 per 100 approvals [95% confidence interval 4.0-9.0]). Twenty-four (96%) of the 25 admissions occurred within the 4-dose palivizumab dosing period, and the remaining admission occurred 52 days after the fourth dose. Sixty-four (72%) of 89 admissions were RSV-negative; the baseline clinical characteristics of these children were not different from those of children with RSV-confirmed admissions. INTERPRETATION: In infants with hemodynamically significant congenital heart disease, a 4-dose fixed-date palivizumab schedule over a 6-month season provided seasonal protection comparable to that in a clinical trial involving a standard 5-dose schedule. Because RSV was responsible for only 19% of admissions for LRTI in our cohort, it is critical to continue to emphasize other preventive measures, including family education toward proper hand hygiene, breast-feeding and limiting infectious exposures in children at high risk.

Physiological Responses to Exercise in Pediatric Heart Transplant Recipients.

INTRODUCTION: Pediatric heart transplant (HTx) recipients have reduced exercise capacity typically two-thirds of predicted values, the mechanisms of which are not fully understood. We sought to assess the cardiorespiratory responses to progressive exercise in HTx relative to controls matched for age, sex, body size, and work rate. METHODS: Fourteen HTx recipients and matched controls underwent exercise stress echocardiography on a semisupine cycle ergometer. Hemodynamics, left ventricular (LV) dimensions, and volumes were obtained and indexed to body surface area. Oxygen consumption (V˙O2) was measured, and arteriovenous oxygen difference was estimated using the Fick Principle. RESULTS: At rest, LV mass index (P = 0.03) and volumes (P < 0.001) were significantly smaller in HTx, whereas wall thickness (P < 0.01) and LV mass-to-volume ratio (P = 0.01) were greater. Differences in LV dimensions and stroke volume persisted throughout exercise, but the pattern of response was similar between groups as HR increased. As exercise progressed, heart rate and cardiac index increased to a lesser extent in HTx. Despite this, V˙O2 was similar (P = 0.82) at equivalent work rates as HTx had a greater change in arteriovenous oxygen difference (P < 0.01). CONCLUSIONS: When matched for work rate, HTx had similar metabolic responses to controls despite having smaller LV chambers and an attenuated increase in hemodynamic responses. These findings suggest that HTx may increase peripheral O2 extraction as a compensatory mechanism in response to reduced cardiovascular function.

Coronary artery intimal thickening and ventricular dynamics in pediatric heart transplant recipients.

OBJECTIVE: Pediatric heart transplant recipients are at risk of posttransplant coronary artery disease known as cardiac allograft vasculopathy (CAV), and also may develop diastolic dysfunction. As CAV begins with a process of progressive intimal thickening, these occult diffuse changes may be detected using optical coherence tomography (OCT). We hypothesized that the development of CAV, as identified via OCT, may be a mechanism of declining ventricular function. Accordingly, the purpose of this study was to assess coronary artery intimal thickening and LV strain in children who have undergone heart transplantation. METHODS: In 17 children, we analyzed OCT images for coronary intima and media thickness, and cross-sectional area (CSA). We also performed speckle tracking imaging (STI) of the LV to determine longitudinal strain and strain rate, in addition to standard echocardiographic measures. RESULTS: Longitudinal diastolic strain rate was associated with maximum intima thickness (r = -.497, P = .042), intima CSA, (r = -.489, P = .047), maximum media thickness (r = -.503, P = .039), and media CSA (r = -.614, P = .009). The intima maximum thickness, intima/media, and intima/lumen ratios were associated with stroke volume index (Std. ß = -0.487, P = .023 and Std. ß = -0.488, P = .022, respectively). CONCLUSIONS: These findings suggest coronary artery intimal thickening may be mechanistically linked to changes in ventricular function following cardiac transplantation.

Canadian Cardiovascular Society/Canadian Pediatric Cardiology Association Position Statement on Pulse Oximetry Screening in Newborns to Enhance Detection of Critical Congenital Heart Disease.

Congenital heart disease is the most common congenital malformation and approximately 3 in 1000 newborns have critical congenital heart disease (CCHD). Timely diagnosis affects morbidity, mortality, and disability, and newborn pulse oximetry screening has been studied to enhance detection of CCHD. In this position statement we present an evaluation of the literature for pulse oximetry screening. Current detection strategies including prenatal ultrasound examination and newborn physical examination are limited by low diagnostic sensitivity. Pulse oximetry screening is safe, noninvasive, easy to perform, and widely available with a high specificity (99.9%) and moderately high sensitivity (76.5%). When an abnormal saturation is obtained, the likelihood of having CCHD is 5.5 times greater than when a normal result is obtained. The use of pulse oximetry combined with current strategies has shown sensitivities of up to 92% for detecting CCHD. False positive results can be minimized by screening after 24 hours, and testing the right hand and either foot might further increase sensitivity. Newborns with abnormal screening results should undergo a comprehensive assessment and echocardiography performed if a cardiac cause cannot be excluded. Screening has been studied to be cost neutral to cost effective. We recommend that pulse oximetry screening should be routinely performed in all healthy newborns to enhance the detection of CCHD in Canada.

A novel treadmill protocol for exercise testing in children: the British Columbia Children's Hospital protocol.

BACKGROUND: Exercise testing in children is widely recommended for a number of clinical and prescriptive reasons. Many institutions continue to use the Bruce protocol for treadmill testing; however, with its incremental changes in speed and grade, it has challenges for practical application in children. We have developed a novel institutional protocol (British Columbia Children's Hospital (BCCH)), which may have better utility in paediatric populations. AIM: To determine if our institutional protocol yields similar peak responses in minute ventilation (VE), oxygen consumption (VO2), carbon dioxide production (VCO2), respiratory exchange ratio (RER), metabolic equivalents (METS) and heart rate (HR) when compared with the traditional Bruce protocol. METHODS: On two different occasions, 70 children (boys=33; girls=37) aged 10-18 years completed an exercise test on a treadmill using each of the protocols. During each test, metabolic gas exchange parameters were measured. HR was monitored continuously during exercise using an HR monitor. RESULTS: Physiological variables were similar between the two protocols (median (IQR); rs): VE (L/min) (BCCH=96.7 (72.0-110.2); Bruce=99.2 (75.6-120.0); rs=0.95), peak VO2 (mL/min) (BCCH=2897 (2342-3807); Bruce=2901 (2427-3654); rs=0.94) and METS (BCCH=16.2 (14.8-17.7); Bruce=16.4 (14.7-17.9); rs=0.89). RERs were similar (BCCH=1.00 (0.96-1.02); Bruce=1.03 (0.99-1.07); rs=0.48). Total exercise time (in seconds) was longer for the BCCH protocol: BCCH=915 (829-1005); Bruce=810 (750-919); rs=0.67. CONCLUSION: The BCCH protocol produces similar peak exercise responses to the Bruce protocol and provides an alternative for clinical exercise testing in children.

Aspirin Dose and Prevention of Coronary Abnormalities in Kawasaki Disease.

BACKGROUND: Acetylsalicylic acid (ASA) is part of the recommended treatment of Kawasaki disease (KD). Controversies remain regarding the optimal dose of ASA to be used. We aimed to evaluate the noninferiority of ASA at an antiplatelet dose in acute KD in preventing coronary artery (CA) abnormalities. METHODS: This is a multicenter, retrospective, nonrandomized cohort study including children 0 to 10 years of age with acute KD between 2004 and 2015 from 5 institutions, of which 2 routinely use low-dose ASA (3-5 mg/kg per day) and 3 use high-dose ASA (80 mg/kg per day). Outcomes were CA abnormalities defined as a CA diameter with a z score ≥2.5. We assessed the risk difference of CA abnormalities according to ASA dose. All subjects received ASA and intravenous immunoglobulin within 10 days of fever onset. RESULTS: There were 1213 subjects included, 848 in the high-dose and 365 in the low-dose ASA group. There was no difference in the risk of CA abnormalities in the low-dose compared with the high-dose ASA group (22.2% vs 20.5%). The risk difference adjusted for potential confounders was 0.3% (95% confidence interval [CI]: -4.5% to 5.0%). The adjusted risk difference for CA abnormalities persisting at the 6-week follow-up was -1.9% (95% CI: -5.3% to 1.5%). The 95% CI of the risk difference of CA abnormalities adjusted for confounders was within the prespecified 5% margin considered to be noninferior. CONCLUSIONS: In conjunction with intravenous immunoglobulin, low-dose ASA in acute KD is not inferior to high-dose ASA for reducing the risk of CA abnormalities.

Assessment of Liver Stiffness in Pediatric Fontan Patients Using Transient Elastography.

Background. Hepatic fibrosis is a potential complication following Fontan surgery and heralds long-term risk for cirrhosis. Transient elastography (TE) is a rapid, noninvasive method to assess liver fibrosis by measuring liver stiffness. Objectives. To compare liver stiffness and liver biochemistries in pediatric Fontan patients with age- and sex-matched controls and to determine patients' acceptance of TE. Methods. Patients were recruited from British Columbia Children's Hospital. Twenty-two Fontan patients (15 males) were identified. Demographic information and cardiac data were collected. TE was measured using size-appropriate probes. Results. The median age of the Fontan cohort was 13.7 (5.9-16.8) years. Time from Fontan surgery to TE was 9.6 (1.0-12.9) years. The median Fontan circuit pressure was 13 (11-14) mmHg. TE values were higher in Fontan patients versus controls (18.6 versus 4.7 kPa, p < 0.001). There was no association between TE values and patient age (r = 0.41, p = 0.058), time since Fontan surgery (r = 0.40, p = 0.062), or median Fontan circuit pressure (CVP) (r = 0.35, p = 0.111). Patients found TE to be nonpainful, convenient, and safe. Conclusions. TE is feasible to assess liver stiffness in children following Fontan surgery. Pediatric Fontan patients have markedly elevated liver stiffness values. TE may have important utility in liver care follow-up of pediatric Fontan patients.

Maternal anti-Ro and anti-La antibody-associated endocardial fibroelastosis.

BACKGROUND: Maternal anti-Ro and anti-La antibodies are associated with congenital heart block (CHB). Although endocardial fibroelastosis (EFE) has been described in isolated cases of autoantibody-mediated CHB, the natural history and pathogenesis of this disease are poorly understood. METHODS AND RESULTS: We retrospectively reviewed the clinical history, echocardiography, and pathology of fetuses and children with EFE associated with CHB born to mothers positive for anti-Ro or anti-La antibodies at 5 centers. Thirteen patients were identified, 6 with a prenatal and 7 with a postnatal diagnosis. Six mothers were positive for anti-Ro and anti-La antibodies, and 7 were positive for anti-Ro antibodies only. Only 1 mother had autoimmune disease. Severe ventricular dysfunction was seen in all fetal and postnatal cases. Four fetal and 3 postnatal cases had EFE at initial presentation. However, 2 fetal and 4 postnatal cases developed EFE 6 to 12 weeks and 7 months to 5 years from CHB diagnosis, respectively, even despite ventricular pacing in 6 postnatal cases. Eleven (85%) either died (n=9) or underwent cardiac transplantation (n=2) secondary to the EFE. Pathologic assessment of the explanted heart, available in 10 cases, revealed moderate to severe EFE in 7 and mild EFE in 3 cases, predominantly involving the left ventricle. Immunohistochemistry in 4 cases (including 3 fetuses) demonstrated deposition of IgG in 4 and IgM in 3 and T-cell infiltrates in 3 cases, suggesting an immune response by the affected fetus or child. CONCLUSIONS: EFE occurs in the presence of autoantibody-mediated CHB despite adequate ventricular pacing. Autoantibody-associated EFE has a very high mortality rate, whether developing in fetal or postnatal life.

The protean manifestations of blunt cardiac trauma in children.

We present a case series of pediatric blunt cardiac trauma with a variety of cardiac abnormalities, occurring immediately and after the initial insult. The range of complications and importance of serial evaluations are emphasized.

Fatal congenital hypertrophic cardiomyopathy and a pancreatic nodule morphologically identical to focal lesion of congenital hyperinsulinism in an infant with costello syndrome: case report and review of the literature.

Costello syndrome is characterized by constitutional mutations in the proto-oncogene HRAS, causing dysmorphic features, multiple cardiac problems, intellectual disability, and an increased risk of neoplasia. We report a male infant with dysmorphic features, born prematurely at 32 weeks, who, during his 3-month life span, had an unusually severe and ultimately fatal manifestation of hypertrophic cardiomyopathy and hyperinsulinemic hypoglycemia. Molecular studies in this patient demonstrated the uncommon Q22K mutation in the HRAS gene, diagnostic of Costello syndrome. The major autopsy findings revealed hypertrophic cardiomyopathy, congenital myopathy, and a 1.4-cm pancreatic nodule that was positive for insulin expression and morphologically identical to a focal lesion of congenital hyperinsulinism. Sequencing of KCNJ11 and ABCC8, the 2 most commonly mutated genes in focal lesion of congenital hyperinsulinism, revealed no mutations. While hyperinsulinism is a recognized feature of RASopathies, a focal proliferation of endocrine cells similar to a focal lesion of hyperinsulinism is a novel pathologic finding in Costello syndrome.