Vein of Galen Aneurysmal Malformation with Anomalous Right Superior Vena Cava to the Left Atrium Leading to Atypical Clinical and Echocardiographic Findings.

Vein of Galen aneurysmal malformation (VGAM) is a rare intracranial vascular malformation which typically presents in a critically ill newborn with intractable heart failure, severe pulmonary hypertension, and right heart dilation. We report two unusual cases of neonates with VGAM and anomalous connection of right superior vena cava to the left atrium. Both neonates were diagnosed with VGAM in utero and were clinically stable after birth with dilation of the left atrium and left ventricle and no evidence of pulmonary hypertension. One case with hydrocephalus underwent transcatheter embolization at 1 week of age. The other case without hydrocephalus underwent elective transcatheter embolization at 4 months. We postulate that the presence of a right superior vena cava to the left atrium provides a physiological advantage and counters the left-to-right shunt from the arteriovenous malformation. This provides insight to a potential treatment strategy to improve outcomes in patients with severe heart failure and pulmonary hypertension secondary to VGAM.

Two-dimensional systolic speckle tracking echocardiography provides a noninvasive aid in the identification of acute pediatric heart transplant rejection.

BACKGROUND: Acute rejection is an important cause of morbidity and mortality in the pediatric heart transplant (HT) population. A reliable noninvasive method for diagnosis of clinical rejection could substantially reduce these negative outcomes. OBJECTIVE: Evaluate left ventricular (LV) global longitudinal strain (GLS), and global circumferential strain (GCS) as early noninvasive indicators of acute pediatric HT rejection. METHODS: An 18-month prospective cohort study involving 61 patients evaluated absolute change in peak global systolic strain (GLS and GCS) from enrollment (baseline) to next planned clinical encounter (follow-up) or rejection. Acute rejection defined as a biopsy of grade ≥ 2R or treatment with enhanced immunosuppression by the transplant team, blinded to strain analysis. Two patient cohorts three months post HT without evidence of rejection at enrollment were identified. The study cohort experienced rejection. The control cohort remained free from rejection on follow-up. Two-way analysis of variance (ANOVA) models evaluated change in GLS and GCS by cohort group and time. RESULTS: Applying exclusion criteria, 51 patients enrolled in the control cohort and 10 in the study cohort. The study cohort's mean GLS declined 33% from baseline to rejection (P < .001) and mean GCS declined 16.6% (P = .021). No significant change from baseline to follow-up was seen in the control cohort. A threshold absolute GLS value of 16.1% identified acute rejection with 100% sensitivity and 98% specificity (Likelihood Ratio, [LR] 51). CONCLUSION: Noninvasive global longitudinal strain was sensitive and specific in the identification of acute clinical rejection in pediatric HT recipients.

Health-Related Quality of Life and Functional Status Are Associated with Cardiac Status and Clinical Outcome in Children with Cardiomyopathy.

OBJECTIVES: To measure the health-related quality of life (HRQOL) and functional status of children with cardiomyopathy and to determine whether they are correlated with sociodemographics, cardiac status, and clinical outcomes. STUDY DESIGN: Parents of children in the Pediatric Cardiomyopathy Registry completed the Child Health Questionnaire (CHQ; age ≥ 5 years) and Functional Status II (Revised) (age ≤ 18 years) instruments. Linear and Cox regressions were used to examine hypothesized associations with HRQOL. RESULTS: The 355 children evaluated at ≥ 5 years (median 8.6 years) had lower functioning (CHQ Physical and Psychosocial Summary Scores 41.7 ± 14.4 and 47.8 ± 10.7) than that of healthy historical controls. The most extreme CHQ domain score, Parental Impact-Emotional, was one SD below normal. Younger age at diagnosis and smaller left ventricular end-diastolic dimension z score were associated independently with better physical functioning in children with dilated cardiomyopathy. Greater income/education correlated with better psychosocial functioning in children with hypertrophic and mixed/other types of cardiomyopathy. In the age ≥ 5 year cohort, lower scores on both instruments predicted earlier death/transplant and listing for transplant in children with dilated and mixed/other types of cardiomyopathy (P < .001). Across all ages (n = 565), the Functional Status II (Revised) total score was 87.1 ± 16.4, and a lower score was associated with earlier death/transplant for all cardiomyopathies. CONCLUSIONS: HRQOL and functional status in children with cardiomyopathy is on average impaired relative to healthy children. These impairments are associated with older age at diagnosis, lower socioeconomic status, left ventricular size, and increased risk for death and transplant. Identification of families at risk for functional impairment allows for provision of specialized services early in the course of disease. TRIAL REGISTRATION: ClinicalTrials.gov: NCT00005391.

Use of Amplatzer Vascular Plugs for the treatment of combined extralobar and intralobar pulmonary sequestration in a 5-year-old child.

Pulmonary sequestration is a rare congenital anomaly that can be asymptomatic or present with recurrent infections, respiratory symptoms, or rarely heart failure. Sequestration is classified as intralobar or extralobar on the basis of whether there is separation from normal lung tissue by its own visceral pleura. Classically, patients are treated with surgical resection. We present a case of multivessel, combined intralobar and extralobar pulmonary sequestration treated with transcatheter embolisation.

Subclinical cardiotoxicity in childhood cancer survivors exposed to very low dose anthracycline therapy.

BACKGROUND: Subclinical cardiotoxicity occurs in childhood cancer survivors following moderate and high anthracycline doses. However, less is known about the subclinical changes in left ventricular (LV) structure that occur after very low anthracycline doses of ≤ 100 mg/m(2). This study was designed to assess LV function and key structural parameters following very low doses of anthracycline. PROCEDURE: Conventional 2-dimensional echocardiograms with Doppler were obtained in 91 survivors of childhood cancer exposed to ≤ 100 mg/m(2), an average of 9.8 years from diagnosis. LV structural measurements were converted into Z-scores. The Z-score distributions were compared to those of the normal population. Diastolic and systolic function were quantified. RESULTS: The cohort demonstrated a decreased posterior wall thickness (mean Z-score -1.01) and mildly decreased LV end diastolic (mean Z-score -0.85) and systolic (mean Z-score -0.84) dimensions compared to the normal population (P < 0.001). Further, 28% of patients (n = 25) had abnormal LV posterior wall thickness, ≥ 2 standard deviations below the mean (Z-score ≤ -2). There were no patients with diastolic dysfunction or symptomatic systolic dysfunction, however four patients demonstrated abnormal SF ≤ 28%. CONCLUSIONS: A significant proportion of patients exposed to very low doses of anthracycline demonstrate subclinical abnormalities in LV structure, despite the absence of radiation or other risk factors. While we cannot say whether these structural changes will result in clinically significant cardiac disease, the reported progressive nature of these findings raises concern that there may truly be no safe dose of anthracycline.

Utility and importance of new echocardiographic screening methods in diagnosis of anomalous coronary origins in the pediatric population: assessment of quality improvement.

Anomalous aortic origin of coronaries from the contralateral sinus (AAOCA) is rare but an important cause of cardiac death in the otherwise healthy young athlete. This necessitates prompt, accurate identification; transthoracic echocardiography (TTE) remains the primary screening tool. Assessment of accuracy is difficult since the true prevalence of the disease is unknown, with estimates at 0.3-1.07%. The incidence by TTE remains much lower, between 0.09 and 0.17% even with sophisticated equipment and a high index of suspicion. Our goal was to incorporate two new screening views to our standard TTE protocol and assess improvement in diagnosis of AAOCA by TTE in our laboratory. Recently (2011), we incorporated two new screening methods to standard protocol. The parasternal short axis sweep is extended to visualize the anomalous segment arising superiorly from the ascending aorta before exiting the root at a site close to a 'normal' origin. Secondly, the anomalous, interarterial coronary demonstrates an anterior, steep-angled course visualized in the parasternal long axis between the aorta and pulmonary artery. The echocardiogram database was searched for patients newly diagnosed with AAOCA in 2010 (prior to incorporation of new methods) and 2012. AAOCA incidence in our patient population improved from 0.02% (2010) to 0.22% (2012), age range from 4 days to 17 years. Teenagers and symptomatic patients with anomalous right coronary origin (6) underwent additional confirmatory imaging, and three underwent surgery. One patient with anomalous left coronary origin underwent surgical repair. Addition of the screening views can significantly increase the sensitivity of TTE in diagnosing AAOCA in the asymptomatic patients. We propose that these views be incorporated into the standard TTE evaluation of coronary arteries.

Unruptured sinus of valsalva aneurysm in a neonate with hypoplastic left heart syndrome: echocardiographic diagnosis and features.

An unruptured sinus of Valsalva aneurysm is usually asymptomatic, and a rare, often incidental echocardiographic diagnosis. Its presentation in the neonatal period is extremely rare. We describe this finding in a neonate with hypoplastic left heart syndrome, which has not been previously reported in the literature. This constellation of findings may have important clinical implications in regards to medical management and surgical options.

Anomalous left main coronary artery origin from the right sinus of Valsalva: a novel echocardiographic screening method.

Anomalous origin of the left main coronary artery from the right sinus (ALMCA) is a rare entity associated with an increased risk for sudden cardiac death. Although transthoracic echocardiography often is the primary screening tool for the diagnosis, its accuracy remains undefined, resulting in the use of more expensive methods such as cardiac catheterization and magnetic resonance imaging when clinical suspicion exists. This report aims to describe a novel echocardiographic screening method for detecting ALMCA and to apply it retrospectively for patients with confirmed findings intraoperatively and/or on autopsy. All patients with a confirmed diagnosis of ALMCA who presented to our institution from 2004 to 2012 were included in the study. Eight patients had adequate images, including two patients with an initial diagnosis of normal coronary origins. A control group consisted of 35 patients with normal coronaries shown by echocardiogram. Five of these patients had normal coronary artery origins confirmed by magnetic resonance imaging (MRI). Echocardiographic images were reviewed, and the left main coronary was identified in the parasternal long-axis view between the aorta and pulmonary trunk. The angle of the left main coronary course was measured. In patients with ALMCA, the proximal course of the vessel was steeper as it coursed posteriorly. In contrast, the course was almost horizontal in patients with normal coronary origins. Based on these findings, a cutoff angle of 28° is proposed. In the parasternal long-axis view, ALMCA can be identified by its anomalous proximal course. This screening method is reliable and increases the accuracy of transthoracic echocardiograms.

HeartWatch: Implementing a Pediatric Heart Center Program to Prevent Cardiac Arrests Outside the ICU.

Pediatric patients with cardiovascular disease are at increased risk of cardiopulmonary arrest. Despite utilization of Cardiac Pediatric Early Warning Scores to identify patients at risk of decompensation, our institution had a twofold increase in cardiac arrests (CAs) in the acute care cardiology unit (ACCU) over 2 years. Through a quality improvement initiative, we developed a watcher program, HeartWatch, to reduce the CA arrest rate in the ACCU by 50% over the first year of implementation. Methods: HeartWatch aims to identify patients not adequately captured by Cardiac Pediatric Early Warning Scores who are at high risk for sudden decompensation. Inclusion criteria were developed and evaluated during pilot and implemented phases (April 2020-April 2021) and then monitored in a sustained phase through June 2022. Our primary outcome was the reduction in the out-of-ICU CA rate. Results: During the 13 months, we enrolled 169 patients, and the CA rate decreased from 0.7 to 0.33 per 1,000 patient days, a 53% reduction. The CA rate further decreased to 0.28 events per 1,000 patient days, a 60% reduction, by June 2022. The most common indications for HeartWatch inclusion were high-risk single-ventricle patients (31%) and patients with diminished ventricular function (20%). Conclusions: Implementation of HeartWatch was associated with a meaningful reduction in CA in the ACCU. Creating shared mental models for high-risk patients is essential for patient safety. Future work will optimize local processes that focus on the sustainability of our gains. We will also evaluate opportunities to adapt and implement a similar framework in other institutions to assess reproducibility.

Diagnosing a patent foramen ovale in children: is transesophageal echocardiography necessary?

BACKGROUND AND PURPOSE: transesophageal echocardiography (TEE) is the gold standard for the diagnosis of a patent foramen ovale in adults. In children, acoustic windows on transthoracic echocardiography (TTE) are better than in adults; thus, an invasive TEE may not be necessary. Our goal was to assess the validity of TTE with agitated saline injection for the diagnosis of a patent foramen ovale in children using TEE as the gold standard. METHODS: fifty consecutive pediatric patients >1 year of age referred for TEE were prospectively enrolled. Imaging included 2-dimensional, color Doppler, and agitated saline contrast injections with and without Valsalva by TTE followed by TEE. Interpreters of the TTE were blinded to TEE results. Studies were categorized as "inconclusive" if the TTE images were inadequate for definitive diagnosis by the blinded interpreter. RESULTS: TTE results were considered conclusive in 43 of 50 (86%) patients. Among the 43 conclusive studies, the 2 modalities disagreed in 1 patient. TTE had a positive predictive value of 100%, negative predictive value 97%, sensitivity of 88%, and specificity of 100% for detecting a patent foramen ovale. CONCLUSIONS: TTE with agitated saline injection is diagnostic for the assessment of atrial septal integrity in the majority of children.

A neonate with left congenital diaphragmatic hernia and transient retrograde flow in the aortic arch.

Retrograde flow in the aortic arch identifies inadequate cardiac output in neonates with congenital heart disease. We present a left congenital diaphragmatic hernia (CDH) infant with retrograde flow in the arch that normalized after CDH repair. We hypothesize transient inadequacy of the left heart; prostaglandins might play a pivotal role.

Sinus of Valsalva Aneurysm in a Patient With Mosaic Trisomy 13: Case Report and Brief Review of the Literature.

This report describes a unique case involving an obese 16-year-old boy with a mosaic form of trisomy 13 and no previous cardiac history who presented with a new murmur, hypertension, pleural effusions, and congestive heart failure in the context of sore throat and fever. Evaluation revealed a diagnosis of ruptured noncoronary sinus of Valsalva (SOV) aneurysm. The diagnosis and surgical management of a ruptured noncoronary SOV aneurysm in a pediatric patient are briefly outlined. An SOV aneurysm is an anatomic dilation of one of the sinuses of the aortic root. Aneurysmal dilation occurs more commonly in the right aortic sinus (70%-80%), compared to the noncoronary sinus (23%-25%), and more rarely the left coronary sinus (5%). Rupture of these aneurysms has been reported to be both spontaneous and secondary to physical exertion, hypertension, or trauma. Signs of rupture include a continuous murmur, patients may present with chest pain or with symptoms of acute congestive heart failure. Diagnosis, in this case, was made by transthoracic echocardiography with careful interpretation of color Doppler images.

Echocardiography, not chest radiography, for evaluation of cannula placement during pediatric extracorporeal membrane oxygenation.

OBJECTIVE: Optimal cannula position is essential during extracorporeal membrane oxygenation (ECMO). We hypothesize that echocardiography is superior to chest radiography in diagnosing abnormal cannula position during ECMO. DESIGN: Retrospective. SETTING: Pediatric hospital. PATIENTS: 100 pediatric patients requiring ECMO. MEASUREMENTS AND MAIN RESULTS: We reviewed the medical records of all ECMO patients (n = 100), including reports of all echocardiograms (n = 326), during the years 2002-2004. Of the 91 patients who had echocardiograms while on ECMO, 33 had at least 1 echocardiogram for cannula-position evaluation. Of the remaining 58 patients with echocardiograms for reasons other than cannula-position evaluation, 4 (7%) were found to have abnormal cannula position. These included arterial cannula (AC) within 2-4 mm of the aortic valve (n = 2), AC across the aortic valve into the left ventricle (n = 1), and venous cannula (VC) abutting the atrial septum (n = 1). Of the 33 patients with echocardiograms for evaluation of cannula position, 8 (24%) required intervention. Of those 8 patients, 4 required cannula repositioning due to VC in the coronary sinus (n = 1), VC abutting atrial septum (n = 1), AC in left subclavian artery (n = 1), and AC within 3 mm of aortic valve (n = 1). The remaining 4 with normal cannula position required upsizing of the VC (n = 2), increased circuit flow (n = 1), or intravascular volume administration (n = 1). Overall, 12 of 91 patients (13%) required intervention based on echocardiographic findings. Chest radiography did not detect abnormalities of ECMO cannula position in any of the 8 patients with this problem, nor were any additional patients with abnormal cannula position identified by chest radiography. CONCLUSIONS: Echocardiography appears to be superior to chest radiography for assessing ECMO cannula position in our institution. A prospective study, including cost analysis, comparing chest radiography and echocardiography, is needed to definitely determine the preferred diagnostic test or sequence of tests to establish ECMO cannula position.

The extracardiac lateral tunnel Fontan, constructed with bovine pericardium: comparison with the extracardiac conduit Fontan.

BACKGROUND: The Fontan procedure performed with an extracardiac conduit (ECC) has gained wide acceptance as an alternative to the intracardiac lateral tunnel because it avoids placement of extensive atrial suture lines and use of prosthetic material in the systemic circulation. The extracardiac lateral tunnel (ELT) is a modification of the Fontan procedure which uses pericardium and the external surface of the atrium to create a conduit from the inferior vena cava to the pulmonary artery. This surgery theoretically avoids disruption of intra-atrial conduction by eschewing endocardial suturing while maintaining conduit growth potential and the ability to easily create a fenestration to the systemic circulation. METHODS: We retrospectively analyzed the short-term outcome of 96 consecutive patients who underwent an extracardiac Fontan procedure. An ELT using bovine pericardium was performed in 59 patients, whereas 37 patients received a traditional ECC. RESULTS: The 2 groups were similar with respect to age (P = .96), body surface area (P = .54), number of preoperative Fontan risk factors (P = .43), and ventricular morphology (P = .72). There were no significant differences in the following outcome variables between the ELT and the traditional ECC: length of hospitalization (P = .73), duration of chest tube drainage (P = .48), abnormal rhythm at time of discharge (P = .27), and mortality (P = .63). CONCLUSIONS: The ELT Fontan can be performed with a low risk of mortality and complications. The results are equivalent to the traditional ECC procedure. The theoretical advantages of the procedure suggest that it should be considered a useful modification of Fontan surgery.

Left ventricular function and response to enalapril in patients with duchenne muscular dystrophy during the second decade of life.

The role of angiotensin-converting enzyme inhibitors in the management of cardiomyopathy related to Duchenne muscular dystrophy has not been completely defined. The purposes of this study were to describe the response to enalapril and its relation to dystrophin mutation type, ventricular size, or age at the onset of left ventricular (LV) systolic dysfunction. Serial clinical and echocardiographic data from 50 patients with Duchenne muscular dystrophy (aged 10 to 20 years) were retrospectively reviewed. Twenty-seven patients (46%) developed LV systolic dysfunction (mean age 13.2 +/- 2.4 years). Ten (43%) responded to enalapril with the normalization of function. Responders and nonresponders developed LV systolic dysfunction at similar ages (p = 0.91). At the onset of LV systolic dysfunction, only 2 patients (1 responder, 1 nonresponder) had dilated left ventricles. The positive response to enalapril was sustained in 7 patients (median follow-up 23 months, range 5 to 58). No specific mutation was associated with the response to enalapril (p = 0.66) or predictive of the development of LV systolic dysfunction (p = 0.8). In conclusion, 10 of 26 patients (43%) with Duchenne muscular dystrophy responded to the use of enalapril with normalization of the shortening fraction. Age at the onset of LV systolic dysfunction and the type of mutation were not predictors of response to enalapril.

Fenestration improves clinical outcome of the fontan procedure: a prospective, randomized study.

BACKGROUND: The Fontan procedure is the definitive operation for palliation of complex congenital heart disease with single-ventricle physiology. Fenestration of the Fontan circuit allows for shunting of deoxygenated blood to the systemic circulation. This procedure improved the clinical outcomes of patients who are at high risk for poor Fontan results. However, it is controversial whether fenestration is beneficial for standard-risk patients. METHODS AND RESULTS: This prospective, randomized trial evaluated the clinical utility of fenestration in patients with standard preoperative risk profiles for Fontan surgery. Forty-nine consecutive patients were assigned to undergo either a fenestrated (25 patients) or nonfenestrated (24 patients) Fontan procedure. The fenestrated and nonfenestrated groups were comparable with respect to age (P=0.944), body surface area (P=0.250), number of preoperative risk factors for poor outcome (P=0.681), cardiopulmonary bypass time (P=0.302), number of patients who required aortic cross-clamping (P=0.240), preoperative oxygen saturation (P=0.101), and number of patients with dominant left ventricular morphology (P=0.534). Patients in the fenestrated group had 55% less total chest tube drainage (P=0.036), 41% shorter total hospitalization (P=0.018), and 67% fewer additional procedures in the postoperative period (P=0.006) than those in the nonfenestrated group. CONCLUSIONS: Baffle fenestration performed at the time of Fontan surgery improves short-term outcome in standard-risk patients by decreasing pleural drainage, hospital length of stay, and need for additional postoperative procedures.

Trisomy 21 and congenital heart disease: effect of timing of initial echocardiogram.

Current recommendations for infants with trisomy 21 include an echocardiogram in the first month of life. The purposes of this study were to determine whether outcome and presence of transient shunting differed between infants with echocardiograms in the first month (Group I) and those performed later (Group II). Transient patent ductus arteriosus was more commonly seen in Group I. Presence of a patent foramen ovale, failure to return for follow-up, and surgical mortality rate did not differ between the 2 groups. A more selective policy related to timing of the initial echocardiogram in asymptomatic infants with trisomy 21 appears to be warranted.

Aspirin Resistance in Single-Ventricle Physiology: Aspirin Prophylaxis Is Not Adequate to Inhibit Platelets in the Immediate Postoperative Period.

BACKGROUND: Incidence of thrombosis after initial stage 1 single-ventricle palliation is high. Most centers use aspirin as an antiplatelet agent to prevent thrombosis in surgically placed shunts. We hypothesize there is a significant incidence of aspirin resistance in infants after stage 1 palliation and this resistance can be overcome by an increased aspirin dose. METHODS: This is a prospective observational study of 20 patients with single-ventricle physiology who required single-ventricle palliation with a controlled source of pulmonary blood flow (Norwood/Sano, Norwood/Blalock-Taussig [BT] shunt or BT shunt alone). Aspirin resistance was determined using thromboelastography with platelet mapping (TEG) and urine thromboxane (UTX). The UTX level of less than 1,500 pg/mL and TEG value of more than 50% were used to define as adequate platelet inhibition. The UTX was measured prior to starting aspirin (20 mg/day) and TEG and UTX were obtained after 5 days of aspirin therapy A repeat UTX was measured for patients who were determined to be aspirin resistant by TEG (<50% arachidonic acid inhibition) after doubling the dose (40 mg/day). Clinical variables including patient diagnosis, age of surgery, and cardiopulmonary bypass requirement, weight, hemoglobin, and platelet count were assessed to determine their association with aspirin resistance. RESULTS: Eighty percent of patients were aspirin resistant using TEG (95% CI, 56% to 94%) and none of the patients achieved a UTX level of less than 1,500 pg/mL. Aspirin resistant patients did not respond to an increased dose of aspirin between the fifth and tenth days of therapy (p = 0.820). Patients did, however, respond to aspirin treatment when comparing the baseline UTX measurement with those recorded on the fifth day (p = 0.008) and the tenth day (p = 0.0361) of aspirin therapy. The UTX levels did not differ between those who were and those who were not aspirin resistant by TEG at any of the measurement times. The clinical variables were not associated with aspirin resistance status. CONCLUSIONS: There is a high incidence of aspirin resistance in the immediate postoperative period after single-ventricle shunt palliation. Aspirin might not be an adequate agent for shunt prophylaxis in this patient population. Further studies are needed to identify at-risk patients who might benefit from additional testing and specific anticoagulation.