Aortopulmonary Collateral Vessels Research Articles

"The Case of a 44 Year Old Survivor of Unrepaired Tetralogy of Fallot, Right Aortic Arch and Abdominal Aortopulmonary Collateral Vessels"

"The Case of a 44 Year Old Survivor of Unrepaired Tetralogy of Fallot, Right Aortic Arch and Abdominal Aortopulmonary Collateral Vessels"

EP262: De novo heterozygous variant in the RAB11B gene presenting with combined cardiac defect and neurodevelopmental disorder: A case report

The RAB11B gene (OMIM: 604198) encodes for a GTP-binding protein within the Rab11 GTPase subfamily which is associated with the regulation of exocytic and endocytic pathways. It also plays an essential role in ciliogenesis and vesicular trafficking. Pathogenic variants in RAB11B were first described in five patients in 2017. Subsequently, an additional patient was diagnosed through the Korean Undiagnosed Diseases Program (KUDP) in 2019. Clinical features shared by these patients were predominantly a neurological phenotype, including global developmental delay, epilepsy, hypotonia and gait disturbances. Ophthalmological, musculoskeletal, dermatological, and urological findings were also reported in some patients. MRI brain abnormalities were present in many of these patients and include decrease in white matter volume, patchy white matter signals, cerebellar hypoplasia, ventriculomegaly, thin corpus callosum and atypical partial rhombencephalosynapsis. Here we describe a 6-year-old male with previously unreported clinical findings of congenital heart defect in this disorder. A 5-year-old term male presented with prenatal complications of fetal congenital heart disease, maternal hypertension and maternal gestational diabetes. Fetal echocardiogram identified a tetralogy of Fallot (TOF) and post-natal echocardiogram confirmed the TOF with pulmonary valve atresia and 2 aorto-pulmonary collateral vessels from the descending aorta. Clinical examination at birth revealed bilateral congenital vertical talus but no other dysmorphic features. Fluorescent in-situ hybridization test for 22q11.2 deletion was negative. Chromosomal microarray analysis revealed a 133kb deletion of uncertain significance on chromosome 5q14.3. A head and renal ultrasound was normal at birth. He was diagnosed with congenital nystagmus and microcoria at 6 months of age with low amplitude on visual evoked potential testing. MRI brain revealed an extremely hypoplastic corpus callosum and brainstem, bilateral optic nerve hypoplasia, marked depletion of white matter and delayed myelination. He requires a G-tube for feeding. He has significant global developmental delays and is non-verbal. A clinical trio exome sequencing revealed a de novo, heterozygous, missense variant of unknown significance in the RAB11B gene (c.64 G>A; p.al22Met). This variant has since been re-classified as a pathogenic variant based on the published case series of 6 other individuals with similar phenotype. Given the fact that RAB11B is highly expressed in brain, cardiac and testicular tissue with various roles in ciliogenesis and vesicular trafficking, this patient’s cardiac defect is likely secondary to the pathogenic variant the RAB11B gene. We present this case of a de novo, heterozygous RAB11B variant presenting with a congenital heart defect in addition to a neurodevelopmental phenotype, thus expanding the phenotypic spectrum of this rare disorder.

22q11.2 Deletion Status and Perioperative Outcomes for Tetralogy of Fallot with Pulmonary Atresia and Multiple Aortopulmonary Collateral Vessels.

Deletion of 22q11.2 (del22q11) is associated with adverse outcomes in patients with tetralogy of Fallot (TOF). We sought to investigate its contribution to perioperative outcome in patients with a severe form of TOF characterized by pulmonary atresia (PA) or severe pulmonary stenosis (PS) and major aortopulmonary collateral arteries (MAPCAS). We conducted a retrospective review of patients with TOF/MAPCAS who underwent staged surgical reconstruction between 1995 and 2006. Groups were compared according to 22q11.2 deletion status using t-tests or the Wilcoxon Rank sum test. We included 26 subjects, 24 of whom survived the initial operation. Of those, 21 subjects had known deletion status and constitute the group for this analysis [15 with no deletion present (ND) and 6 del22q11 subjects]. There was no difference with respect to occurrence of palliative procedure prior to initial operation, or to timing of closure of the ventricular septal defect (VSD). Other than higher prevalence of prematurity (50%) in the del22q11 group versus no prematurity in the ND, the groups were comparable in terms of pre-operative characteristics. The intra- and post-operative course outcomes (length of cardiopulmonary bypass, use of vasopressors, duration of intensive care and length of hospital stay, tube-feeding) were also comparable. Although the del22q11 had longer mechanical ventilation than the ND, this difference was not significant [68h (range 4-251) vs. 45h (range 3-1005), p = 0.81]. In this detailed comparison of a small patient cohort, 22q11.2 deletion syndrome was not associated with adverse perioperative outcomes in patients with TOF, PA, and MAPCAS when compared to those without 22q11.2 deletion syndrome. These results are relevant to prenatal and neonatal pre-operative counseling and planning.

Percutaneous Interventions in Patients with Fontan Circulation

Background: Total bypass surgery of the pulmonary ventricle is a palliative procedure with high incidence of complications requiringcareful postoperative follow-up. Interventional catheterization plays an essential role in the early detection and possible treatmentof complications.Objective: The aim of this study was to describe the interventional catheterization procedures performed in patients with Fontancirculation.Methods: Between 1999 and 2014, 85 patients with Fontan surgery underwent 154 interventional catheterization procedures, withmean postoperative follow-up of 7.05 years (±4.8 years).Results: Different interventional catheterizations were performed: 38 patients underwent closure at the fenestration level and 4underwent reopening. Forty-four catheterization procedures were done in 37 patients for aortopulmonary collateral vessel embolization;28 patients required embolization of veno-venous collaterals; in 13 patients, after angioplasty of pulmonary branches, 7 stentswere implanted at the extracardiac conduit level, and after angioplasty, 3 stents were implanted in 4 patients; antegrade flow was occludedin 4 patients, in 2 patients the atrioventricular valve was closed and 5 patients underwent other procedures. No complicationswere associated with interventional catheterization procedures. Twenty percent of interventional catheterizations were performedimmediately after surgery due to Fontan circulation dysfunction. Short-term mortality was associated with the severe complicationscharacteristic of the disease (p=0.0007). Long-term mortality was 5%.Conclusions: Patients with Fontan circulation required diverse catheterization procedures, both in the immediate postsurgical periodas in the long-term follow-up. The most frequent cause for recatheterization was hemoptysis secondary to aortopulmonary collateralvessel circulation. In no case were there complications associated with the interventional catheterization procedure. Mortalitywas related with the need for catheterization in the immediate postoperative period to treat severe complications of the Fontancirculation. Interventional catheterization is essential in the management of patients with Fontan circulation.

Characterizing the angiogenic activity of patients with single ventricle physiology and aortopulmonary collateral vessels

ObjectivesPatients with single ventricle congenital heart disease often form aortopulmonary collateral vessels via an unclear mechanism. To gain insights into the pathogenesis of aortopulmonary collateral vessels, we correlated angiogenic factor levels with in vitro activity and angiographic aortopulmonary collateral assessment and examined whether patients with single ventricle physiology have increased angiogenic factors that can stimulate endothelial cell sprouting in vitro. MethodsIn patients with single ventricle physiology (n = 27) and biventricular acyanotic control patients (n = 21), hypoxia-inducible angiogenic factor levels were measured in femoral venous and arterial plasma at cardiac catheterization. To assess plasma angiogenic activity, we used a 3-dimensional in vitro cell sprouting assay that recapitulates angiogenic sprouting. Aortopulmonary collateral angiograms were graded using a 4-point scale. ResultsCompared with controls, patients with single ventricle physiology had increased vascular endothelial growth factor (artery: 58.7 ± 1.2 pg/mL vs 35.3 ± 1.1 pg/mL, P < .01; vein: 34.8 ± 1.1 pg/mL vs 21 ± 1.2 pg/mL, P < .03), stromal-derived factor 1-alpha (artery: 1901.6 ± 1.1 pg/mL vs 1542.6 ± 1.1 pg/mL, P < .03; vein: 2092.8 pg/mL ± 1.1 vs 1752.9 ± 1.1 pg/mL, P < .02), and increased arterial soluble fms-like tyrosine kinase-1, a regulatory vascular endothelial growth factor receptor (612.3 ± 1.2 pg/mL vs 243.1 ± 1.2 pg/mL, P < .003). Plasma factors and sprout formation correlated poorly with aortopulmonary collateral severity. ConclusionsWe are the first to correlate plasma angiogenic factor levels with angiography and in vitro angiogenic activity in patients with single ventricle disease with aortopulmonary collaterals. Patients with single ventricle disease have increased stromal-derived factor 1-alpha and soluble fms-like tyrosine kinase-1, and their roles in aortopulmonary collateral formation require further investigation. Plasma factors and angiogenic activity correlate poorly with aortopulmonary collateral severity in patients with single ventricles, suggesting complex mechanisms of angiogenesis.

Possible association between fluconazole administration and acute hyperkalemia in a critically ill cyanotic infant.

Fluconazole, an azole antifungal agent, inhibits the fungal cytochrome P450 enzyme. Although in vitro data show that fluconazole is not a potent inhibitor of mammalian P450 enzymes, hyperkalemia secondary to adrenal insufficiency associated with fluconazole has been described rarely [1–3]. However, life-threatening severe hyperkalemia related to administration of intravenous fluconazole without adrenal suppression has not been reported before. A 2.5-month-old male infant diagnosed with tetralogy of Fallot with pulmonary atresia and multiple aorto-pulmonary collateral vessels was transferred to a pediatric intensive care unit due to septicemia. On physical examination, he was tachypneic and tachycardic with decreased oxygen saturation (62%) and a temperature of 38.8°C. Laboratory studies included hemoglobin, 12.4 g/dl; white blood count, 23.2 × 109/l; C-reactive protein, 38.3 mg/l (0–3.2); and serum potassium, 3.8 mEq/l (3.5–5.1 mEq/l). Other biochemical parameters and renal function tests were in the normal range. Blood cultures were positive for coagulase negative Staphylococcus. He was started on teicoplanin and meropenem intravenously. As fever persisted after 48 h with new infiltrates on chest radiography, and tracheal colonization with Candida spp., fluconazole 5 mg/kg intravenously once a day was given. After 24 h of treatment with fluconazole, bradycardia developed in the patient. Electrocardiography showed a prolonged PR interval and widening of the QRS complex with bradycardia (Figure 1). His simultaneous laboratory testing demonstrated a serum potassium level of 8 mEq/l. He was treated with repetitive administration of sodium bicarbonate, insulin/glucose, as well as calcium gluconate. Repeat blood results showed potassium 11 mEq/l. The results of renal and liver function tests and the levels of other electrolytes were within normal limits. There were no signs of rhabdomyolysis, hemolysis or severe acidosis. No medication errors could be identified. Infusion of fluconazole was stopped, and he was treated with repetitive administration of bicarbonate, insulin/glucose, and albuterol by nebulizer. In the meantime peritoneal dialysis was administered in the patient. The serum potassium level gradually returned to a normal level (4 mEq/l), and the findings of ECG abnormalities were improved. Figure 1 ECG shows widened QRS and prolonged PR interval Prophylaxis with fluconazole has been shown to reduce the occurrence of candidiasis in intensive care units [4, 5]. Even though fluconazole in standard doses is thought to be safe, there are rare reports of adrenal suppression associated with fluconazole administration [2, 3]. In our patient, severe hyperkalemia was observed after 24 h of treatment with fluconazole. Our patient's renal functions remained normal and evidently did not impair potassium excretion. No evidence of rhabdomyolysis, severe acidosis, hemolysis or adrenal suppression was detected. Although the causative mechanism is unclear, severe hyperkalemia was associated with fluconazole in our patient. All other possible causes of hyperkalemia were excluded. Fluconazole may have unknown life-threatening side-effects, despite having been tested prior to its clinical use. To our knowledge, this is the first report of a life-threatening complication of fluconazole without adrenal insufficiency. We speculate that because of chronic hypoxia of our patient due to his cyanotic heart disease, the drug side effect may have been triggered, and it may be prudent to monitor electrolytes especially in critically ill cyanotic patients.

Reperfusion pulmonary edema in children with tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collateral arteries undergoing unifocalization procedures: A pilot study examining potential pathophysiologic mechanisms and clinical significance

Children with tetralogy of Fallot (TOF), pulmonary atresia (PA), and major aortopulmonary collateral arteries (MAPCAs) are at risk for reperfusion pulmonary edema (RPE) after unifocalization procedures to reconstruct the central pulmonary arteries. The purpose of this study was to determine the incidence of RPE, describe the clinical course of patients with RPE, and explore the mechanism of RPE in this population by measuring plasma biomarkers of alveolar epithelial and endothelial injury and lung inflammation. Levels of plasma receptor for advanced glycation end products (RAGE), intercellular adhesion molecule 1 (ICAM-1), and interleukin 6 (IL-6) were measured at baseline and postoperative day (POD) 0, 1, and 2 after unifocalization. A pediatric radiologist reviewed chest radiographs from the same time points and scored each lung segment for the degree of pulmonary edema. A pediatric interventional cardiologist reviewed the preoperative angiograms for each patient and determined the degree of stenosis for each aortopulmonary collateral vessel. RPE was defined as localized pulmonary edema with a pulmonary edema score of at least 2 occurring in the lung segment demonstrating the greatest degree of angiographic stenosis within the first 48 hours after surgery and with resolution by discharge. Thirty-five patients who underwent 37 unifocalization procedures were enrolled, and 32 patients were included in the analysis. Of these, 16 of 32 (50%) demonstrated evidence of RPE based on our defined criteria. There was no significant difference in RAGE (P=.60), ICAM-1 (P=.34), or IL-6 (P=.31) levels between those with and without RPE at any time point. The mean duration of mechanical ventilation in patients with RPE versus those without was not significantly different (5.1±4.2 vs 5.6±4.5 days, respectively; P=.57). Fifty percent of children with TOF/PA/MAPCAs undergoing unifocalization surgery developed RPE. Levels of plasma biomarkers of alveolar epithelial and endothelial injury and lung inflammation were not increased in patients with RPE compared with those without RPE. The presence of RPE did not affect the duration of respiratory failure and mechanical ventilation. The process of RPE is clinically self-limited and seems unlikely to be associated with vascular changes.

Massive Hemoptysis in a Post–Fontan Procedure Patient

Aortopulmonary collateral vessels (AP collaterals) are frequently seen in patients with cyanotic heart disease. However, massive hemoptysis leading to life-threatening hemorrhage is rare. In this case, we present a 7-year-old girl who presented to the pediatric emergency department with massive hemoptysis secondary to AP collateral hemorrhage. We were able to control her hemoptysis initially through calming techniques, but the patient eventually went on to have 2 cardiac catherization procedures, during which coiling of many AP collateral vessels was performed.

Historical Aspects of Transcatheter Treatment of Heart Disease in Children

The very first transcatheter intervention to treat congenital cardiac defects was reported by Rubio-Alvarez et al. [1] in 1953, when they performed pulmonary valvotomy using a modified ureteral catheter. A decade later Dotter, Rashkind, Porstmann and their associates described progressive dilatation of peripheral arterial stenotic lesions, balloon atrial septostomy and transcatheter occlusion of patent ductus arteriosus, respectively. The purpose of this review is to present these and other historical developments of catheter-based interventions in the treatment of heart disease in children. Historical aspects of 1. balloon angioplasty/valvuloplasty of valvar pulmonary stenosis, valvar aortic stenosis, fixed subaortic stenosis, native aortic coarctation, postsurgical aortic recoarctation, branch pulmonary artery stenosis, mitral stenosis, cyanotic heart defects with pulmonary oligemia, stenotic bioprosthetic valves, congenital tricuspid and mitral stenosis, truncal valve stenosis, subvalvar pulmonary stenosis, supravalvar pulmonary stenosis (congenital membranous or postoperative), stenosis of the aorta (Leriche syndrome, atherosclerotic and Takayasu’s arteritis), baffle obstruction following Mustard or Senning procedure (both systemic and pulmonary venous obstructions), superior and inferior vena caval obstructions, pulmonary vein stenosis, pulmonary veno‑occlusive disease, vertical vein stenosis in total anomalous pulmonary venous connection, pulmonary venous obstruction following repair of total anomalous pulmonary venous obstruction, specially designed pulmonary artery bands, cor triatriatum, cor triatriatum dexter, and coronary artery stenotic lesions that develop after Kawasaki disease; 2. stents to enlarge stenotic lesions of branch pulmonary arteries, systemic veins, systemic and pulmonary venous pathways after Mustard procedure, aorta, right ventricular outflow conduits, pulmonary veins and native right ventricular outflow tract or to keep the ductus arteriosus open in patients with pulmonary atresia and hypoplastic left heart syndrome and maintaining patency of stenosed aorto-pulmonary collateral vessels, surgically created but obstructed shunts or acutely thrombosed shunts as well as covered stents; 3. transcatheter occlusion of cardiac defects comprising of atrial septal defect, patent foramen ovale, patent ductus arteriosus, ventricular septal defect and aortopulmonary window and 4. catheter-based atrial septostomy such as Rashkind balloon atrial septostomy, Park’s blade atrial septostomy, balloon angioplasty of the atrial septum, trans-septal puncture and atrial septal stents were presented.

Tratamiento endovascular del secuestro pulmonar con dispositivos tipo Amplatzer®

Pulmonary sequestration is a rare malformation characterised by non-functioning lung tissue, separated from the tracheobronchial tree and with arterial supply from the systemic circulation. The classical therapeutic approach is surgical resection. In recent years, the endovascular embolisation technique is increasingly being used for the treatment of this disease. The embolisation materials used are coils and vascular plugs. The Amplatzer® vascular plug is a self-expandable cylindrical mesh device, particularly useful for the embolisation of large vessels with high flow. Three cases of pulmonary sequestration were treated by embolisation with Amplatzer® vascular plugs. In all cases the procedure was performed without complications, and the aortopulmonary collateral vessels were completely occluded.Our study provides new data on the safety and efficacy of pulmonary embolisation with Amplatzer® vascular plugs, and its preference over coils in the embolisation of large vessels.

Unrepaired Tetralogy of Fallot with Major Aortopulmonary Collateral Arteries in an Adult Patient

Tetralogy of Fallot is characterized by a ventricular septal defect, a large, overriding aorta, subpulmonic stenosis, and right ventricular hypertrophy. These lesions can be associated with abnormal development of the pulmonary vasculature. This can include peripheral pulmonic stenosis, discontinuous pulmonary arteries, anomalous pulmonary venous return, and the development of aortopulmonary collateral vessels. Aortopulmonary collateral vessels develop to supply underperfused areas of the pulmonary bed and pose a unique and challenging problem at the time of surgical repair, which involves closure of the ventricular septal defect, relief of right ventricular outflow tract obstruction, maintenance of pulmonary valve competency when possible, and establishment of laminar pulmonary blood flow to all segments of the pulmonary bed. We describe a 36-year-old man with unrepaired tetralogy of Fallot with distinctive aortopulmonary collaterals, who underwent complete surgical repair with good outcome. Two-dimensional echocardiogram, cardiac magnetic resonance imaging, and cardiac catheterization each provided vital details allowing a stepwise approach to defining his unique anatomy for surgical correction.

Application of interventional technique in surgical treatment for children congenital heart disease

PurposeTo evaluate the efficacy and ancenity of interventional technique combined with surgical treatment for children congenital heart disease.MethodsCoil embolisation to occlude aortopulmonary collateral vessels was attempted in 4 patients with...

Extended applications of the Amplatzer vascular plug IV in infants

A variety of devices are available for transcatheter closure of unwanted shunts. We describe our experience with the use of the Amplatzer vascular plug IV in a consecutive series of infants. A total of eight consecutive infants - all born preterm at gestational ages ranging from 24 to 35 weeks - undergoing transcatheter closure of unwanted shunts - persistently patent arterial duct in five patients, an aorta to right atrium fistula in one, multiple aortopulmonary collateral vessels in one, and an azygos vein to left atrium connection in one - are described. Their age, from birth, ranged between 3 and 11 months, and weight between 2.6 and 11.3 kilograms. All devices were delivered using percutaneous arterial or venous vascular access via a large lumen (0.038 inch) 4-French delivery catheter. All lesions could be successfully occluded using one or more devices. Device diameters ranged between 4 and 8 millimetres, and exceeded the minimum diameter of the target vessel by 1 to 2 millimetres. Successful occlusion was confirmed either directly at angiography or on follow-up echocardiography. Of the infants who were mechanically ventilated prior to the procedure, three could be successfully weaned following closure of the shunt. There were no procedure-related complications. The new vascular plug IV is cheap and efficacious in closing a variety of shunts in young infants, and warrants further extended clinical application.

Quantitative analysis of pulmonary artery and pulmonary collaterals in preoperative patients with pulmonary artery atresia using dual-source computed tomography

Objective To evaluate the value of dual-source computed tomography (DSCT) in quantitatively measuring pulmonary arteries and major aortopulmonary collateral vessels in comparison with conventional angiographic (CA) on preoperative patients with pulmonary artery atresia and ventricular septal defect (PAA-VSD). Materials and methods Twenty PAA-VSD patients who had complete imaging data of DSCT, CA and echocardiography (ECHO) studies were retrospectively analyzed. Using final clinical diagnosis as the standard, results of DSCT, CA and ECHO on the detection of cardiac malformations, measurement of diameters of pulmonary artery and collateral vessel, as well as the values of McGoon ratio, pulmonary arterial index (PAI) and total neopulmonary arterial index (TNPAI) were derived and compared. Results In 20 patients, 51 of 54 (94.4%) cardiac malformations were visualized by DSCT, whereas 42 (77.8%) by ECHO ( p = 0.027). Fourteen cases with aortopulmonary collateral vessels were all (100%) detected by DSCT, whereas 5 cases (35.7%) by ECHO ( p = 0.001), and 13 cases (92.9%) by CA ( p = 0.995). Sixteen cases with confluence of native pulmonary arteries were diagnosed by DSCT, whereas 10 cases by CA ( p = 0.024). Measurement of the diameters of pulmonary arteries, collateral vessels, and descending aorta at the level of diaphragm were correlated well between DSCT and CA ( r = 0.95–0.99). McGoon ratio (DSCT = 1.18 ± 0.60, CA = 1.23 ± 0.64), PAI (DSCT = 130.96 ± 99.38 mm 2/m 2, CA = 140.91 ± 107.87 mm 2/m 2) and TNPAI (DSCT = 160.31 ± 125.62 mm 2/m 2, CA = 169.14 ± 122.81 mm 2/m 2) were calculated respectively, without significant differences between DSCT and CA by paired t-tests (all p > 0.05). Conclusion DSCT was efficient for evaluating and measuring native pulmonary artery and aortopulmonary collateral vessels prior to surgical procedures in PAA-VSD patients. Combined with echocardiography, DSCT showed potential to replace CA for evaluating pulmonary artery atresia noninvasively.

The ‘starfish’ sign: a novel sonographic finding with B‐flow imaging and spatiotemporal image correlation in a fetus with total anomalous pulmonary venous return

Total anomalous pulmonary venous return (TAPVR) is a serious congenital anomaly that can lead to delivery of a critically ill newborn if not recognized during fetal life.1,2 Volpe et al.3 have described the inclusion of B-flow imaging using spatiotemporal image correlation (STIC) for fetuses with total anomalous pulmonary venous connection. We now wish to report another affected fetus that extends these original observations and further demonstrates the value of this methodology for detailed anatomic evaluation of complex congenital heart disease. A 19-year-old woman, gravida 1 para 0, was referred to our unit at 21 weeks’ gestation for an abnormal cardiac screening examination that included left cardiac axis deviation, ventricular septal defect (VSD), and a single overriding arterial outflow tract. In addition to her clinical examination, she agreed to participate in an imaging research protocol that was approved by the institutional review boards of William Beaumont Hospital and the Eunice Kennedy Shriver National Institute of Child Health and Human Development. Volume ultrasonography (Voluson E8, GE Healthcare, Milwaukee, WI, USA) demonstrated the following: (1) right-sided aortic arch; (2) large perimembranous VSD with overriding aorta; (3) pulmonary atresia; (4) large aortopulmonary collateral artery arising anteriorly from the descending aorta; and (5) poorly visualized pulmonary veins into the left atrium. Our differential diagnosis included tetralogy of Fallot with pulmonary atresia and truncus arteriosus. Anomalous pulmonary venous return was also considered because of the poorly visualized pulmonary veins into the left atrium. Four-dimensional ultrasonography with B-flow and STIC imaging were later used to demonstrate a confluence of pulmonary veins that drained into a vertical vein behind the left atrium, resembling a starfish in shape (Figure 1, Videoclip S1). Figure 1 4D ultrasonography, using B-flow imaging and spatiotemporal image correlation, demonstrating tetralogy of Fallot, pulmonary atresia and total anomalous venous return, from a left oblique view of the posterior heart. A confluence of pulmonary veins drains ... Amniocentesis results revealed an apparently unrelated partial duplication of the short arm of chromosome 16 (16p11.2 to 16p12), but not a 22q minus chromosomal anomaly. A male infant was delivered at term gestation. Neonatal echocardiography confirmed tetralogy of Fallot with pulmonary valve atresia, levocardia, and a right aortic arch. Situs solitus was noted without evidence of isomerism. An aortopulmonary collateral vessel ultimately supplied both pulmonary arteries and the ductus arteriosus was absent. Four pulmonary veins drained into a vertical vein that emptied into a left innominate vein. This vessel subsequently coursed beneath the aortic arch into a right superior vena cava. Postnatal surgery on day 3 included placement of a conduit that connected the right ventricle to the pulmonary artery, perimembranous VSD closure, and correction to total anomalous venous return. The infant had failure to thrive with persistent chylous pleural drainage and eventually expired at 5 months of age. B-flow technology digitally enhances signals from weak blood reflectors from vessels and, at the same time, suppresses strong signals from surrounding tissues.4 The method does not rely on Doppler ultrasonography to display blood flow, is angle-independent, and permits relatively high frame rates with excellent spatial resolution. This approach may be advantageous over color or power Doppler imaging when used in conjunction with STIC for the evaluation of fetal vasculature. Our findings extend those in the original case series of Volpe et al. of fetuses with TAPVR using B-flow imaging and STIC.3 This image demonstrates an unusual degree of anatomic detail for this complicated anomaly and now documents a starfish-like appearance of confluent pulmonary veins as a supracardiac form of TAPVR. In our experience, most prenatal cases of congenital heart disease can be adequately visualized using conventional 2D ultrasonography. Some complex heart anomalies, however, can be further characterized from the additional use of volume sonography with B-flow imaging.

Aortopulmonary Collaterals in Single-Ventricle Congenital Heart Disease

Broadly defined, aortopulmonary collateral blood vessels (APCs) arise from the systemic arteries and supply blood to the pulmonary circulation. In the setting of acquired and congenital pulmonary and cardiac disease, the number and caliber of these vessels can increase and lead to a significant systemic-to-pulmonary shunt. APCs typically arise from the descending aorta, subclavian artery branches, and bronchial and intercostal arteries. Unlike normal bronchial arteries, they often supply flow to the terminal respiratory unit and do not necessarily travel in close proximity to the bronchial tree. Prominent APCs are associated with a variety of congenital heart diseases but are more prevalent with cyanotic lesions, particularly tetralogy of Fallot with pulmonary valve atresia. APCs are also commonly found in patients with single-ventricle heart disease, and their extent may fluctuate with successive surgical procedures.1–4 The impact and assessment of APCs in patients with a functionally single ventricle is the focus of the discussion that follows. Article see p 219 From a physiological standpoint, APCs may have both beneficial and adverse consequences. The principal advantageous effect of APCs is to improve systemic arterial oxygen saturation by increasing pulmonary blood flow leading to a higher “mixed” saturation in the ventricle. In addition, APCs may potentially inhibit the development of pulmonary arteriovenous malformations in patients with a bidirectional Glenn shunt by providing a route for hepatic venous blood to reach the lungs. Among the negative effects of APC flow is that it can compete with and limit the more effective, lower saturated blood flow to the lungs from the pulmonary arteries. Also of concern is that all APC flow returns to the single ventricle and thereby results in an additional volume load. Because these patients are at risk for the development of systolic and diastolic heart failure and atrioventricular valve regurgitation, any increased work …

Transcatheter closure of patent ductus arteriosus and aorto‐pulmonary vessels using non‐ferromagnetic Inconel MReye embolization coils

We report the use of non-ferromagnetic embolization coils for transcatheter PDA closure. Transcatheter patent ductus arteriosus (PDA) closure has been performed for 40 years. A number of devices have been used with varying degrees of success. Gianturco embolization coils have been used frequently since 1992 with excellent results. These coils are a stainless steel alloy, and create an artifact when subsequent MRI imaging is performed. Eight patients underwent right and left heart catheterization and transcatheter PDA closure. Angiography displayed a PDA with left to right shunting. The minimum PDA diameter was measured. An Inconel MReye coil was implanted using standard retrograde technique. A postimplant angiogram was performed. Evaluations were performed the following morning and after 2 months. The median age was 5.5 years, median weight was 24 kg. The PDA minimum diameter was 1.7 mm (range 1.4-2.4 mm), with a median Qp:Qs=1.33:1. In all patients, the PDA was completely immediately closed using one Inconel coil. Two patients also had a small aorto-pulmonary collateral vessel that was occluded using a separate Inconel coil. All patients had follow-up evaluation the following day; the PDA remained completely occluded and there was no obstruction of the pulmonary artery branches or descending aorta. Seven patients had subsequent follow-up and echocardiograms; the PDA remained completely occluded. There were no complications. The Inconel MReye coil is safe and effective for coil occlusion of small PDA and aorto-pulmonary vessels. Additional studies are needed to define the maximum vessel diameter for Inconel coil occlusion.

Transcatheter recanalization of acutely occluded modified systemic to pulmonary artery shunts in infancy

There are few data on successful recanalization of acutely occluded modified aortopulmonary shunts in infants in whom the major component of pulmonary flow is shunt-dependent. Seven infants (age range 6 days to 7 months) with modified (polytetrafluoroethylene) aortopulmonary shunts (central shunt n = 6, modified Blalock-Taussig shunt n = 1), in whom acute shunt occlusion was documented following surgery (interval from shunt surgery 2-6 days) underwent emergency cardiac catheterization with a view to reopening the shunt. Anterograde right ventricle to pulmonary artery flow was present in three patient; two other had additional aortopulmonary collateral vessels, and intravenous prostaglandin E (PGE1) infusion was restarted in three infants to achieve or maintain ductal patency. All occluded shunts could be crossed with a 4F endhole catheter and various guidewire combinations. Balloon dilation was performed using a balloon with the same nominal diameter as the shunt (5 or 6 mm). All shunts were successfully recanalized. Two infants with recurrent cyanotic episodes underwent stent implantation in the right ventricular outflow tract (RVOT) during the same procedure. One infant required shunt revision 24 h following balloon angioplasty, during which a small clot was evacuated from the distal end of the shunt. An immediate improvement in oxygen saturation could be documented in all patients. In the remaining six infants, shunt patency was confirmed at follow-up, until further definitive repair. One infant died of non-cardiac causes, while awaiting definitive repair. This small series demonstrates that acutely occluded shunts can be successfully recanalized, and that patency can be maintained until further definitive surgery in the majority of infants.

Elevated vascular endothelial growth factor levels are associated with aortopulmonary collateral vessels in patients before and after the Fontan procedure

Aortopulmonary collaterals (APCs) are frequently observed before and after the Fontan procedure. However, the mechanism of the development of APCs is unknown. We hypothesized that one or several antiangiogenic and/or angiogenic growth factors might play a role in the development of APCs. Eighty-five patients were enrolled and divided into 3 groups (Fontan group: 30 patients after the Fontan procedure, cyanotic group: 29 patients with cyanotic heart disease, and control group: 26 patients with cyanotic heart disease after biventricular repair). We measured basic fibroblast growth factor, vascular endothelial growth factor (VEGF), hepatocyte growth factor, and endostatin at catheterization. Angiographic evaluation for the presence of APCs using a 4-point scale (grade 1: absent APCs, > or = grade 2: significantly present APCs) was performed, and the relation of the serum levels of these factors to the presence of APCs was assessed. The grade of APCs significantly increased in the Fontan group, but it decreased in the control group. The serum VEGF levels were higher in the Fontan group (280 +/- 174 pg/mL) and the cyanotic group (302 +/- 245 pg/mL) than in the control group (111 +/- 91 pg/mL) (P = .0004), and they were higher in patients with APCs (383 +/- 204 pg/mL) than in those without APCs (115 +/- 65 pg/mL) (P < .0001). There was no significant difference in the serum basic fibroblast growth factor, hepatocyte growth factor, and endostatin levels between the 3 groups. Aortopulmonary collaterals increase after the Fontan procedure. Serum VEGF levels are associated with the presence of APCs. Vascular endothelial growth factor may play a role in the development of APCs in patients with cyanotic heart disease and after the Fontan procedure.

Presentation of Congenital Heart Disease in the Neonate and Young Infant

Presentation of Congenital Heart Disease in the Neonate and Young Infant