Histopathological Workup of an Amplatzer Atrial Septal Defect Occluder After Surgical Removal

We present results of the histopathological work-up of an atrial septal defect occluder that was explanted 15 months after interventional implantation due to a significant residual shunt. Complete endothelialization of the surface and a mild inflammatory reaction was demonstrated.     

Patient-Activated Antitachycardia Pacing to Terminate Atrial Tachycardias with 1:1 Atrioventricular Conduction in Congenital Heart Disease

A young girl with complex congenital heart disease and a Fontan procedure presented with frequent episodes of atrial tachycardias with 1:1 atrioventricular conduction. The patient underwent placement of a dual-chamber AT500 pacemaker with epicardial leads but because of the detection algorithm requiring > or = 2:1 AV relation, she received no antitachycardia therapy. Installation of special software AT500 TPARx v2.1 allowed use of patient-activated antitachycardia pacing for 1:1 atrial tachycardias. Since the installation of this application, the patient has successfully pace-terminated her tachycardia multiple times.     

Blade Consolidation of Multiple Atrial Septal Defects: A Novel Approach to Transcatheter Closure

The Amplatzer atrial septal defect occlusion device has gained popularity for the nonoperative closure of secundum-type defects. We describe a case of multiple atrial septal defects that were consolidated into a single defect using blade atrial septostomy for successful closure with single Amplatzer device.     

Atrial Septal Defect: Spectrum of Care

Atrial septal defect (ASD) is a common congenital heart defect. Variability in management of this lesion exists among clinicians. A review of the literature reveals that there is lack of standard guidelines for the evaluation and management of patients with different types of ASDs. This survey-based study was conducted to test the uniformity of diagnostic and therapeutic approach to management of children with secundum, sinus venosus, and primum ASDs. Survey questionnaires were prepared to include questions regarding follow-up, diagnosis, and therapeutic intervention of different types and sizes of ASDs. Questions addressed follow-up visitations, type and frequency of investigative studies, pharmacological therapy, and choice of repair method. Surveys were sent out to all pediatric cardiology academic programs in the United States (n=48) and randomly selected international programs from Europe, Asia, and Australia (n=19). A total of 23 programs (34%) responded to the survey (15 from the United States and 8 internationally). A separate questionnaire was prepared for secundum, primum, and sinus venosus ASD. In each questionnaire, lesion types were subdivided into small, moderate, and large defect sizes to address differences of management approaches to each defect type and size. Results indicate that in secundum ASD, most participants use size of the defect and/or evidence of right-sided volume overload as criteria for defining small, moderate, and large defects. Frequency of follow-up does not vary with the type of lesion but is more frequent with larger defects. Most participants see patients with small defects at intervals of 6 months to 1 year and those with large defects at 3- to 6-month intervals. Age of patient and presence of symptoms determined the frequency of follow-up across all defects. Echocardiography was the most frequently used investigative modality in all defect sizes and types during follow-up visits (used by >80% for follow-up), followed by electrocardiography (ECG). There is a striking preference for the use of pharmacological therapy in primum ASD compared with secundum and sinus venosus ASD. The timing of repair was mainly dependent on patient age and symptomatology in different defects, with the presence of associated anomalies contributing to that in primum and sinus venosus ASD. Most participants use percutaneous approach to close secundum ASD (either as a first choice or as one of two choices depending on the presence of certain features). Before repair, participants use MRI or cardiac catheterization to fully evaluate a secundum ASD if it is large. These investigative modalities are not commonly used in primum and sinus venosus ASD. There is agreement on postoperative follow-up in different types of defects, with most participants continuing follow-up indefinitely, especially in larger defects.     

Mutations in the EGF-CFC Gene Cryptic Are an Infrequent Cause of Congenital Heart Disease

Cryptic (CFC1), a member of the epidermal growth factor–Cripto/FRL-1/Cryptic (EGF–CFC) gene family, is involved in the evolutionarily conserved establishment of left–right lateral asymmetry. Inactivation of Cfc1 in mice results in laterality defects and complex cardiac malformations. Similarly, mutations in the human CFC1 gene have been identified in patients with heterotaxy syndrome. The cardiac defects in humans resemble those in mice lacking Cfc1. We postulated that some patients with isolated cardiac malformations could also have mutations in the CFC1 gene. Our analysis of the CFC1 gene in 167 patients with congenital heart disease revealed a novel A145T missense variant in 3 patients with type II atrial septal defect. Furthermore, we found the previously characterized R78W polymorphism in another patient with type II atrial septal defect. However, the A145T sequence alteration was also identified in 3 controls, suggesting that this variant is a polymorphism. We conclude that CFC1 variants could be a rare cause of congenital heart disease in patients without laterality defects.     

Hybrid Management for Hypoplastic Left Heart Syndrome

Initial surgical reconstruction for hypoplastic left heart syndrome (HLHS) is associated with satisfactory outcomes only in a few referral centers. Moreover, there is a persistent high-risk period for sudden death while the patient waits for the next surgical procedure. The development of a less invasive approach, so-called “hybrid,” postponing a major surgery outside the neonatal period, might reduce the immediate and late surgical burden on these patients. This is a retrospective study of a contemporary series of patients with HLHS seen in two separate institutions. Patients with HLHS or its variants who underwent a “hybrid” management were included in the study. Data are described as the mean and standard deviation or absolute numbers and percentage, as appropriate. From January 2004 to June 2006, 15 patients (10 male; 5 ± 3.8 days old and 2.9 ± 0.5 kg) were included in the study. Ten had both mitral and aortic atresia; the ascending aorta and atrial septal defect measured 2.5 ± 1.4 and 4.9 ± 1.2 mm, respectively. There were six hospital survivors after stage I (mortality rate 60%). During the interstage period, all but one patient needed additional procedures. One patient died of bacterial meningitis 4 months after stage I. Four patients were submitted to stage II operation at 6.6 ± 0.5 months of age and one is waiting for the operation. All four required early reinterventions for pulmonary artery stenosis. Only one was discharged home and was not yet submitted to the third stage. The hybrid approach for HLHS was associated with poor results in this early experience from two independent institutions in a developing country. This might have been related to infrastructure and technical problems, as well as our own learning curve. Institutions working under the same conditions might face similar problems during their initial experience.     

What Pediatric Residents Should Learn (or What Pediatricians Should Know) about Congenital Heart Disease

Technologic advances in the care of children with congenital heart disease have resulted in improved care, younger ages at completion of treatment, and improved outcomes. A gap between what the pediatrician needs to do to identify a child with congenital heart disease and the specialized care provided by a cardiologist has developed over time. This has altered physician roles and the training needs for general pediatricians. This article outlines a model for training that emphasizes the skills necessary for pediatricians to identify infants and children early in life with congenital heart disease consistent with advances in diagnosis and management.     

B-Type Natriuretic Peptide Levels in Congenital Heart Disease

The objective of this study was to evaluate the potential role of B-type natriuretic peptide (BNP) levels in children with congenital heart disease undergoing cardiac catheterization. Measurement of plasma BNP concentration has been shown to be useful in the diagnosis, risk stratification, and management of adult patients with congestive heart failure, but little is known about the role of BNP in children with structural congenital heart disease. We measured plasma BNP levels using the Triage BNP test in patients with congenital heart disease referred for diagnostic or interventional cardiac catheterization. Plasma BNP concentration was measured in 96 children and 11 adults 19 years old (7.9 ± 8.3 years) undergoing heart catheterization for underlying congenital heart disease. BNP levels ranged from <5 to >1300 pg/ml, with a median BNP concentration of 19.0 pg/ml. Baseline BNP concentrations were >100.0 pg/ml on 19 occasions in 17 patients. The pressure difference between the left ventricle and ascending aorta was 10–110 mmHg in 21 patients. BNP concentrations for this cohort ranged from <5.0 to 1060.0 pg/ml and correlated with the degree of left ventricular outflow obstruction (correlation coefficient, 0.661; p = 0.001). This study suggests that with additional research, BNP concentration may prove to be a useful clinical tool in managing children and adults with congenital heart disease.     

Pulmonary Agenesis with Congenital Heart Disease

The combined anomalies of pulmonary agenesis and congenital heart disease are exceedingly rare and a highly lethal association. We describe four cardiovascular operations in three patients with this association. Open-heart surgery was performed in two patients, and palliative heart surgery was performed in two patients. One patient died 100 days after the operation because of severe tracheal stenosis and renal failure, but the other two patients are doing well. Surgical access through a thoracotomy, instead of a median approach, was adequate in all patients. Careful evaluation and a precise understanding of the anatomy are necessary for the surgical management of these patients.     

常见先天性心脏病介入治疗进展及争论

先天性心脏病(CHD)的介入治疗近年来取得了很大进展,已成为CHD的一种重要治疗方法。然而目前人们对常见CHD介入治疗仍存在着一些争论。现重点讨论PDA、VSD、肺动脉瓣狭窄、主动脉瓣狭窄等常见CHD介入治疗适应证及方法学等方面的进展及争论。     

Atrial septal aneurysm in infancy

Summary Thirteen infants were found to have atrial septal aneurysms (ASAs) on twodimensional (2D) echocardiography and their characteristics and natural course have been studied by 2D Doppler echocardiography.Atrial septal aneurysm was accompanied by atrial septal defect (ASD) or other cardiac malformations in 12 of 13 patients, and as an isolated anomaly in one patient. Spontaneous closure of ASD by aneurysmal formation of the interatrial septum was observed in 10 patients. The aneurysms of all 13 patients showed a moderate reduction in size, 14 to 25 months (mean 18 months), after these aneurysms has been first diagnosed and 10 subsequently disappeared.It is likely that ASA occurring in infancy will develop in patients with spontaneous closure of an ASD, and that such an aneurysm has a tendency to regress as the patients grows up.     

Congenital Heart Defects in Conjoined Twins: Outcome After Surgical Separation of Thoracopagus

In this study, we correlated cardiac malformations in the various types of conjoined twins with the proposed site of embryologic union and evaluated the possibility of survival after surgical separation. We conclude that surgical separation is only very rarely successful in twins with united hearts, whereas survival in twins with separate hearts is more dependent on the malformations of other viscera. This report deals primarily with conjoined twins in whom anomalies of the heart are the major factor in deciding whether surgical separation is feasible.     

Morphogenetic Differences of Secundum Atrial Septal Defects

It is generally considered that the development of secundum atrial septal defect (ASDII) or oval fossa defect is the result of excessive resorption of the embryological atrial septum primum, but this does not seem to explain all defects. We investigated 58 postmortem hearts with an ASDII and 22 normal hearts from patients ranging in age from 1 day to 49 years. The different structures of the oval fossa were examined. In 86% of the specimens, the defects were the result of a malformation of the valvula foraminis ovalis or embryological atrial septum primum, and in 14% an absent superior limbus (septum secundum) was the cause of the interatrial communication. The “septum primum” ASDs were divided into four subgroups based on the degree of deficiency of the septum primum and position of the ostium secundum within the septum primum. We conclude that the morphogenesis of ASDII is variable and both septum primum and septum secundum defects occur, which may be relevant in view of genetic studies that may lead to further differentiation of patients with and without genetically determined ASDIIs.     

Dynamic Three-Dimensional Echocardiographic Reconstruction of Congenital Cardiac Septation Defects

Dynamic three-dimensional echocardiographic reconstructions of 27 cardiac septation defects were performed in 19 sedated infants and children. Using a subxiphoid rotational scanning approach, complete visualization of the entire shape and breadth of the defect was attained in 11 of 16 ventricular septal defects and 9 of 11 atrial septal defects. This technique enabled the operator to cut slices from the three-dimensional block of echocardiographic data in order to present septation defects in a region- or lesion-oriented fashion. Poor baseline two-dimensional image quality and certain small septation defects that were readily obscured by nearby structures led to inadequate three-dimensional reconstructions. The application of dynamic three-dimensional echocardiography for assessment of cardiac septation defects uniquely provided (1) the ability to present en face views of atrial and ventricular septal defects; and (2) a means by which intracardiac anatomy can be displayed in a region- and lesion-oriented fashion for interventional and surgical planning purposes.     

Hepatic Cell Necrosis with Congenital Heart Disease in the Newborn

Hepatic cell necrosis is a recognized complication of circulatory failure. Histological examination of the adult liver in such cases reveals centrilobular necrosis and hepatic congestion. Two cases of hepatic cell necrosis in infancy are reported: a four-day-old girl with the hypoplastic left heart syndrome, and a nine-day-old girl with interruption of the aortic arch. In the former, midzonal hepatic necrosis (and not centrilobular necrosis) was demonstrated at autopsy. Both patients exhibited severe hepatic insufficiency, but hepatic function improved rapidly with treatment of the coexistent heart failure. It is suggested that there is milder form of hepatic cell necrosis than that previously reported in autopsies.     

Late Onset of Heart Block After Open Heart Surgery for Congenital Heart Disease

Late onset of complete heart block is a potentially dangerous complication after open heart surgery for congenital heart disease. The characteristics of patients with late-onset heart block have not been well described. A retrospective review of a pacemaker database was done to identify patients who presented with new onset heart block between 1988 and 2006, after they had been discharged from the hospital after open heart surgery with normal AV conduction. Fifteen patients were identified. The age at the time of the last surgery before the onset of heart block was 2.0 ± 3.2 years (range: 3 days to 10 years). Nine had a ventricular septal defect repair, four had an atrioventricular canal, and two other patients had other types of heart defect. The last EKG available for analysis before the onset of heart block had been obtained 5.1 ± 6.5 years (range: 7 days to 16 years) after surgery. The symptoms at the time of presentation were variable. Four patients presented with fatigue or exercise intolerance, two with syncope, two with congestive heart failure, and one with irritability, and the remaining six patients were diagnosed during routine follow-up. The time between open heart surgery and placement of a permanent pacemaker was 6.8 ± 7.3 years (range: 2 months to 19 years). There were seven patients in whom the onset of heart block was more than 6 years after surgery. Late onset of complete heart block after open heart surgery could be dangerous when presenting without warning. These data would support the notion that patients should be followed for life after repair of congenital heart defects, with special attention to the conduction system, particularly after repair of septal defects.     

Universal Screening for Extracardiac Abnormalities in Neonates with Congenital Heart Disease

Extracardiac or genetic abnormalities (EGA) represent a factor in the morbidity of patients with congenital heart disease. We evaluated the way neonates with CHD are screened at our institution and determined the yield for the screening tests. We reviewed the charts of 223 neonates with structural CHD. Subjects were categorized into 6 groups: univentricular, left-sided obstructive lesions, right-sided obstructive lesions, septal defects, conotruncal defects (CTD), and other. We reviewed which patients underwent cranial ultrasonogram (CUS), abdominal ultrasonogram (AUS), and/or genetic studies (GS) as well as their results. There was a high prevalence of EGA in each group by CUS (32% to 42%), AUS (32% to 69%), and GS (10% to 60%). There was considerable variability in the proportion within each group that underwent screening tests, and the consistency of screening often was not congruent with the likelihood of abnormal results. Approximately 50% of our patients had ≥1 EGA identified, resulting in a cost-yield ratio of $4,508/patient with EGA. Screening for EGA at our institution is not uniform and is often at odds with the prevalence of such patients. Given the high prevalence of EGA, we advocate for a universal screening program for neonates with CHD using cranial/abdominal ultrasonography and genetic testing.     

64-Slice Multidetector-Row Computed Tomographic Angiography for Evaluating Congenital Heart Disease

This study aimed to assess critically the role of 64-slice multidetector-row computed tomographic (MDCT) angiography for evaluating congenital heart disease. The study enrolled 60 consecutive patients (median age, 4.7 years; median weight, 16.5 kg) with congenital heart disease who underwent 64-slice MDCT angiography during the period June 2006 through September 2007. The results were classified as diagnostic categories, and the impact of the procedure on strategizing management was critically analyzed. In each of the groups, the current technique offered a clear advantage over conventional imaging and provided specific clues for surgical/interventional management. A management algorithm was evolved based on questions frequently asked about pulmonary artery anatomy. The correlation with surgical anatomy in all cases that involved surgery was excellent. Early results suggest that 64-slice MDCT angiography is a major breakthrough in cardiovascular imaging with an important diagnostic and decision-aiding role. Diagnostic cardiac catheterization, especially for evaluating great vessel anomalies, could be largely replaced by the described technique for congenital heart disease.     

Parental Understanding of Neonatal Congenital Heart Disease

Background This study aimed to evaluate the impact of prenatal diagnosis on parental understanding of congenital heart disease (CHD) in newborns. Methods Consenting parents of newborns with CHD answered questions about the cardiac lesion, surgical repair, follow-up management, risk for CHD in future children, and maternal education before neonatal intensive care unit (NICU) discharge. A total understanding score was calculated (0–10) as the sum of five subscores: physician score, CHD score, surgery score, follow-up score, and reproduction score. Each category was scored as 0 (none correct), 1 (some correct), or 2 (all correct). The prenatal and postnatal diagnoses scores were compared. Results From June 2006 to November 2006, 50 families completed the questionnaire. Of these 50 families, 26 reported a prenatal diagnosis. The mean infant age when the parents were approached was 17.3 ± 13.3 days. The summary understanding score for the entire group was 6.3 ± 2.4 of 10. Multivariate regression analysis demonstrated a difference in scores between prenatal and postnatal diagnosis groups (p = 0.02) when control was used for maternal education. Prenatal diagnosis and maternal education (p < 0.01) had independent effects on the score. Conclusion Prenatal diagnosis increases parental understanding of neonatal CHD. Nevertheless, parental understanding remains suboptimal.