Correction: Arterial tortuosity syndrome: 40 new families and literature review.

In the published version of this paper the author Neus Baena's name was incorrectly given as Neus Baena Diez. This has now been corrected in both the HTML and PDF versions of the paper.

Arterial tortuosity syndrome: 40 new families and literature review.

PURPOSE: We delineate the clinical spectrum and describe the histology in arterial tortuosity syndrome (ATS), a rare connective tissue disorder characterized by tortuosity of the large and medium-sized arteries, caused by mutations in SLC2A10. METHODS: We retrospectively characterized 40 novel ATS families (50 patients) and reviewed the 52 previously reported patients. We performed histology and electron microscopy (EM) on skin and vascular biopsies and evaluated TGF-ß signaling with immunohistochemistry for pSMAD2 and CTGF. RESULTS: Stenoses, tortuosity, and aneurysm formation are widespread occurrences. Severe but rare vascular complications include early and aggressive aortic root aneurysms, neonatal intracranial bleeding, ischemic stroke, and gastric perforation. Thus far, no reports unequivocally document vascular dissections or ruptures. Of note, diaphragmatic hernia and infant respiratory distress syndrome (IRDS) are frequently observed. Skin and vascular biopsies show fragmented elastic fibers (EF) and increased collagen deposition. EM of skin EF shows a fragmented elastin core and a peripheral mantle of microfibrils of random directionality. Skin and end-stage diseased vascular tissue do not indicate increased TGF-ß signaling. CONCLUSION: Our findings warrant attention for IRDS and diaphragmatic hernia, close monitoring of the aortic root early in life, and extensive vascular imaging afterwards. EM on skin biopsies shows disease-specific abnormalities.

Relationship between renal function and extracorporeal membrane oxygenation use: a single-center experience.

The effects of extracorporeal membrane oxygenation (ECMO) support on renal function in children with critical illness are unknown. The objective of this study was to investigate the impact of ECMO on renal function among children in different age groups. We performed a single-center retrospective observational study in critically ill children ≤ 18 years supported on ECMO for refractory cardiac or pulmonary failure (2006-2012). The patient population was divided into four age groups for the purpose of comparisons. The Acute Kidney Injury Network's (AKIN's) validated, three-tiered staging system for acute kidney injury was used to categorize the degree of worsening renal function. Data on patient demographics, baseline characteristics, renal function parameters, dialysis, ultrafiltration, duration of mechanical cardiac support, and mortality were collected. Comparisons of baseline characteristics, duration of mechanical cardiac support, and renal function were made between the four age groups. During the study period, 311 patients qualified for inclusion, of whom 289 patients (94%) received venoarterial (VA) ECMO, 12 (4%) received venovenous (VV) ECMO, and 8 (3%) received both VV and VA ECMO. A total of 109 patients (36%) received ultrafiltration on ECMO, 58 (19%) received hemodialysis, and 51 (16%) received peritoneal dialysis. There was a steady and sustained improvement in renal function in all age groups during the ECMO run, with the maximum and longest-sustained improvement occurring in the oldest age group. Proportions of patients in different AKIN stages remained similar in the first 7 days after ECMO initiation. We demonstrate that renal dysfunction improves early after ECMO support. Irrespective of the underlying disease process or patient age, renal function improves in children with pulmonary or cardiac failure who are placed on ECMO.

Novel use of an Amplatzer Vascular Occluder II to close an acquired fistula between a reconstructed aortic arch and the left atrial appendage in a patient with hypoplastic left heart syndrome.

An 8-month-old female with hypoplastic left heart syndrome had undergone bidirectional cavopulmonary anastomosis at the age of 4.5 months and presented with a new continuous flow murmur on routine follow-up. Diagnostic catheterization demonstrated a fistula between the left atrial appendage and the neo-aortic arch. The fistula was sealed with an Amplatzer Vascular Occluder II device without complications.

Extracorporeal membrane oxygenation support for intractable primary arrhythmias and complete congenital heart block in newborns and infants: short-term and medium-term outcomes.

OBJECTIVES: To describe the experience with extracorporeal membrane oxygenation support for intractable primary arrhythmias in newborns and infants. DESIGN: Retrospective study. SETTING: A tertiary care pediatric hospital. PATIENTS: Patients younger than 1 yr supported with extracorporeal membrane oxygenation for primary cardiac arrhythmias were identified from the institutional extracorporeal membrane oxygenation registry. INTERVENTIONS: Extracorporeal membrane oxygenation support. MEASUREMENTS AND MAIN RESULTS: Clinical characteristics and outcomes were investigated for patients with primary cardiac arrhythmia supported with extracorporeal membrane oxygenation. Outcomes investigated were time from initiation of extracorporeal membrane oxygenation support to arrhythmia control, duration of extracorporeal membrane oxygenation support, and results of interventions performed while supported with extracorporeal membrane oxygenation. We summarized the independent categorical and continuous variables using frequencies, percentages, and medians and ranges, respectively. Extracorporeal membrane oxygenation support was used in nine patients for rescue therapy for primary tachyarrhythmia and bradycardia. The primary arrhythmias were: focal atrial tachycardia (n = 2); reentrant supraventricular tachycardia (n = 3); junctional ectopic tachycardia (n = 2); and congenital complete atrioventricular block (n = 2) patients. Seven patients presented with severe hemodynamic compromise, with six patients requiring extracorporeal cardiopulmonary resuscitation. All patients required extracorporeal membrane oxygenation within 24 hrs of initial presentation. Balloon atrial septostomy was performed in three patients and ablation was performed in two patients. Sinus rhythm was achieved in all reentrant supraventricular tachycardia and rate control was established in both patients with focal atrial tachycardia and in one patient with junctional ectopic tachycardia while using extracorporeal membrane oxygenation support. All patients survived to hospital discharge, and median follow-up for the cohort was 5 yrs. There was one late death; all survivors had good overall and neurologic outcomes. CONCLUSIONS: The requirement of extracorporeal membrane oxygenation support in newborns and infants with intractable arrhythmia is rare. Extracorporeal membrane oxygenation support does potentially carry morbidity; however, to prevent arrhythmia-related mortality, extracorporeal membrane oxygenation support and/or extracorporeal cardiopulmonary resuscitation should be considered in the management of hemodynamically unstable primary arrhythmias as an emergent lifesaving procedure.

Long-term outcomes of intraoperative pulmonary artery stent placement for congenital heart disease.

OBJECTIVE: Our objective was to examine long-term outcomes of intraoperative pulmonary artery stents and determine risk factors for reintervention BACKGROUND: Short-term outcomes of intraoperative pulmonary artery stents have been reported previously. However, long-term results are unknown. METHODS: We conducted a retrospective review of patients who underwent intraoperative pulmonary artery stent placement for branch pulmonary artery stenosis. RESULTS: Ninety-six stents were implanted intraoperatively in 67 patients. Twenty-seven patients received two or more stents at initial intervention. Median patient age at initial stent placement was 1.8 years. Median post-inflation diameter was 8 mm. At a mean follow-up of 7.6±4.5 years, 49% of stents required reintervention (balloon angioplasty at catheterization in 28 patients and surgical revision in 19 patients). Actuarial freedom from reintervention at 2, 5, and 10 years was 68%, 49%, and 40%, respectively. In univariate analysis of time to first reintervention, age at implantation<2 yrs (P<0.0009) and initial post-inflation stent diameter<10 mm (P<0.0002) were associated with risk for reintervention. Multivariable Cox regression analysis showed age<2 years (P<0.005) and diagnosis of tetralogy of Fallot (p<0.002) or truncus arteriosus (P<0.007) to be significant risk factors for reintervention. CONCLUSION: Intraoperative placement of stents in the pulmonary arteries is an alternative to surgical angioplasty, but is associated with a high incidence of reintervention. Age<2 years and the diagnosis of tetralogy of Fallot or truncus arteriosus are risk factors for reintervention.

Use of near-infrared spectroscopy for estimation of renal oxygenation in children with heart disease.

We evaluated whether near-infrared spectroscopy (NIRS) measurement from the flank correlates with renal vein saturation in children undergoing cardiac catheterization. Thirty-seven patients <18 years of age were studied. A NIRS sensor was placed on the flank, and venous oxygen saturations were measured from the renal vein and the inferior vena cava (IVC). There was a strong correlation between flank NIRS values (rSO(2)) and renal vein saturation (r = 0.821, p = 0.002) and IVC saturation (r = 0.638, p = 0.004) in children weighing ≤ 10 kg. In children weighing > 10 kg, there was no correlation between rSO(2) and renal vein saturation (r = 0.158, p = 0.57) or IVC saturation (r = -0.107, p = 0.67). Regional tissue oxygenation as measured by flank NIRS correlates well with both renal vein and IVC oxygen saturations in children weighing <10 kg undergoing cardiac catheterization, but not in larger children.

Chronic intercostal neuralgia after placement of right ventricle to pulmonary artery conduit with prosthetic valve.

Adults with congenital heart disease often have complex medical issues requiring individualised multidisciplinary care for optimising outcomes and quality of life. Chronic pain is an example. We report a rare case of intercostal neuralgia seemingly caused by irritation from a prosthetic valve in a right ventricle to pulmonary artery conduit in a patient with tetralogy of Fallot. Intercostal neuralgia is a painful disorder linked to nerve irritation or injury from trauma, infection or pressure. Although chronic postsurgical pain after cardiac surgery is prevalent, rarely the aetiology relates to valve irritation on a single intercostal nerve. After failing pharmacological therapy for 8 months, the neuralgia completely resolved after an ultrasound-guided neurolytic block with long-term effectiveness and improvement in patient satisfaction.

Intrahospital transport of children on extracorporeal membrane oxygenation: indications, process, interventions, and effectiveness.

OBJECTIVE: To evaluate indications, process, interventions, and effectiveness of patients undergoing intrahospital transport. Critically ill patients supported with extracorporeal membrane oxygenation are transported within the hospital to the radiology suite, cardiac catheterization suite, operating room, and from one intensive care unit to another. No studies to date have systematically evaluated intrahospital transport for patients on extracorporeal membrane oxygenation. DESIGN: Retrospective cohort analysis. SETTING: Cardiac intensive care unit in a tertiary care children's hospital. PATIENTS: All patients on extracorporeal membrane oxygenation who required intrahospital transport between January 1996 and March 2007 were included and analyzed. MEASUREMENTS AND MAIN RESULTS: A total of 57 intrahospital transports for cardiac catheterization and head computed tomography scans were analyzed. In 14 (70%) of 20 of patients with cardiac catheterization, a management change occurred as a result of the diagnostic cardiac catheterization. In ten (59%) of 17 patients, bedside echocardiography was of limited value in defining the critical problem. In the interventional group, the majority of transports were for atrial septostomy. In the head computed tomography group, significant pathology was identified, which led to management change. No major complications occurred during these intrahospital transports. CONCLUSIONS: Although transporting patients on extracorporeal membrane oxygenation is labor intensive and requires extensive logistic support, it can be carried out safely in experienced hands and it can result in important therapeutic and diagnostic yields. To our knowledge, this is the first study designed to evaluate safety and efficacy of intrahospital transport for patients receiving extracorporeal membrane oxygenation support.

Single-institution experience with interhospital extracorporeal membrane oxygenation transport: A descriptive study.

OBJECTIVE: Patients with refractory cardiopulmonary failure may benefit from extracorporeal membrane oxygenation, but extracorporeal membrane oxygenation is not available in all medical centers. We report our institution's nearly 20-yr experience with interhospital extracorporeal membrane oxygenation transport. DESIGN: Retrospective review. SETTING: Quaternary care children's hospital. PATIENTS: All patients undergoing interhospital extracorporeal membrane oxygenation transport by the Arkansas Children's Hospital extracorporeal membrane oxygenation team. INTERVENTIONS: Data (age, weight, diagnosis, extracorporeal membrane oxygenation course, hospital course, mode of transport, and outcome) were obtained and compared with the most recent Extracorporeal Life Support Organization Registry report. RESULTS: Interhospital extracorporeal membrane oxygenation transport was provided to 112 patients from 1990 to 2008. Eight were transferred between outside facilities (TAXI group); 104 were transported to our hospital (RETURN group). Transport was by helicopter (75%), ground (12.5%), and fixed wing (12.5%). No patient died during transport. Indications for extracorporeal membrane oxygenation in RETURN patients were cardiac failure in 46% (48 of 104), neonatal respiratory failure in 34% (35 of 104), and other respiratory failure in 20% (21 of 104). Overall survival from extracorporeal membrane oxygenation for the RETURN group was 71% (74 of 104); overall survival to discharge was 58% (61 of 104). Patients with cardiac failure had a 46% (22 of 48) rate of survival to discharge. Neonates with respiratory failure had an 80% (28 of 35) rate of survival to discharge. Other patients with respiratory failure had a 62% (13 of 21) rate of survival to discharge. None of these survival rates were statistically different from survival rates for in-house extracorporeal membrane oxygenation patients or for survival rates reported in the international Extracorporeal Life Support Organization Registry (p > .1 for all comparisons). CONCLUSIONS: Outcomes of patients transported by an experienced extracorporeal membrane oxygenation team to a busy extracorporeal membrane oxygenation center are very comparable to outcomes of nontransported extracorporeal membrane oxygenation patients as reported in the Extracorporeal Life Support Organization registry. As has been previously reported, interhospital extracorporeal membrane oxygenation transport is feasible and can be accomplished safely. Other experienced extracorporeal membrane oxygenation centers may want to consider developing interhospital extracorporeal membrane oxygenation transport capabilities to better serve patients in different geographic regions.

Removal of a retained intracardiac radiolucent guidewire fragment using an Atrieve™ vascular snare using combined fluoroscopy and transesophageal echocardiography guidance in an infant.

Retained intravascular foreign body is a well-known complication of central venous access placement in children as well as adults. Most of these foreign bodies are radio-opaque and hence are removed under fluoroscopy guidance. In our case, we describe the removal of an intracardiac radiolucent foreign body in an infant utilizing a combination technique - transesophageal echocardiogram and fluoroscopy.

Extracorporeal membrane oxygenation in children with heart disease and genetic syndromes.

Our objective was to evaluate morbidity and mortality associated with extracorporeal membrane oxygenation (ECMO) in children with genetic syndromes and heart disease. We conducted a retrospective review of all children with heart disease and genetic syndromes receiving ECMO during the period January 2000 and March 2012 at Arkansas Children's Hospital, Little Rock. The medical charts were reviewed to obtain the following variables: demographic information, medical and surgical history, laboratory and microbiological, information on organ dysfunction, and outcome characteristics. The outcome variables evaluated in this report included: hospital length of stay (LOS), survival to hospital discharge, and current survival. Outcome data were compared among critically ill children with and without syndromes. During the study period, there were 377 ECMO runs in 336 children with heart disease. Of these, 43 ECMO runs occurred in children with genetic syndromes whereas 334 ECMO runs occurred in children with no genetic abnormality. Children in the group with underlying genetic syndrome were older at the time of ECMO cannulation than the group with no syndrome. During the ECMO run, hospital LOS and mortality were similar in children with and without underlying genetic abnormality. Among genetically abnormal patients, renal insufficiency and need for dialysis were associated with mortality. In this group, 24 patients (56%) were discharged alive. However, only 10 patients are living to date in this cohort. ECMO can be used in children with heart disease and genetic syndromes with good results. The survival rate is high and the complication rate is low.

Therapeutic hypothermia in a neonate with perinatal asphyxia and transposition of the great arteries.

Despite advances in surgical techniques and perioperative management, many newborns with complex congenital heart disease (CCHD) continue to have adverse neurodevelopmental outcomes. With increasing survival of these infants, neuroprotective therapies at various time points, should be considered as an important area of investigation. As some brain injury has been shown to precede surgery, the preoperative period may be a key time to direct protective therapy. Selective hypothermia is used as a neuroprotective therapy for neonates with moderate-to-severe hypoxic-ischemic encephalopathy. We report a case of an asphyxiated term newborn with severe neonatal encephalopathy following neonatal resuscitation and subsequently found to have transposition of the great arteries with a relatively intact atrial septum, who underwent CoolCap(®) therapy following emergent balloon atrial septostomy. Brain injury observed on magnetic resonance imaging preoperatively after cooling was focal and did not extend following neonatal arterial switch operation. The patient's neurologic outcome appeared to be favorable at hospital discharge and at age 6 months. This case presents a therapeutic intervention which may represent a valuable neuroprotective strategy to limit brain injury, and therefore, improve neurodevelopmental outcomes in neonates with CCHD with perinatal asphyxia.

Interhospital transport of children requiring extracorporeal membrane oxygenation support for cardiac dysfunction.

OBJECTIVE: Many centers are able to emergently deploy extracorporeal membrane oxygenation (ECMO) as support in children with refractory hemodynamic instability, but may be limited in their ability to provide prolonged circulatory support or cardiac transplantation. Such patients may require interhospital transport while on ECMO (cardiac mobile [CM]-ECMO) for additional hemodynamic support or therapy. There are only three centers in the United States that routinely perform CM-ECMO. Our center has a 20-year experience in carrying out such transports. The purpose of this study was twofold: (1) to review our experience with pediatric cardiac patients undergoing CM-ECMO and (2) identify risk factors for a composite outcome (defined as either cardiac transplantation or death) among children undergoing CM-ECMO. DESIGN: Retrospective case series. SETTING: Cardiovascular intensive care and pediatric transport system. PATIENTS: Children (n = 37) from 0-18 years undergoing CM-ECMO transports (n = 38) between January 1990 and September 2005. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: A total of 38 CM-ECMO transports were performed for congenital heart disease (n = 22), cardiomyopathy (n = 11), and sepsis with myocardial dysfunction (n = 4). There were 18 survivors to hospital discharge. Twenty-two patients were transported a distance of more than 300 miles from our institution. Ten patients were previously cannulated and on ECMO prior to transport. Thirty-five patients were transported by air and two by ground. Six patients underwent cardiac transplantation, all of whom survived to discharge. After adjusting for other covariates post-CM-ECMO renal support was the only variable associated with the composite outcome of death/need for cardiac transplant (odds ratio = 13.2; 95% confidence interval, 1.60--108.90; P = 0.003). There were two minor complications (equipment failure/dysfunction) and no major complications or deaths during transport. CONCLUSIONS: Air and ground CM-ECMO transport of pediatric patients with refractory myocardial dysfunction is safe and effective. In our study cohort, the need for post-CM-ECMO renal support was associated with the composite outcome of death/need for cardiac transplant.

Pathologic aneurysmal dilation of the ascending aorta and dilation of the main pulmonary artery in patients with Kabuki syndrome: valve-sparing aortic root replacement.

We report the aneurysmal dilation of the ascending aorta and the main pulmonary artery in 2 children with Kabuki syndrome. In 1 patient, there was progressive aneurysmal dilation of the ascending aorta necessitating aortoplasty. Histologic examination of the resected aorta revealed disrupted and fragmented elastic fibers in the medial layer, along with mucinous degeneration of the aortic wall. This is the first recognition and report of these findings as part of the Kabuki syndrome.

Stenting for superior vena cava obstruction in pediatric heart transplant recipients.

BACKGROUND: Superior vena cava (SVC) obstruction can be a complication in heart transplant recipients. We reviewed our experience with relief of SVC obstruction using endovascular stents in pediatric heart transplant recipients. METHODS: Study cohort included pediatric heart transplant recipients, followed at our institution, who required endovascular stent placement for SVC obstruction. Data retrieved retrospectively included cardiac diagnosis, age, and weight at transplant, surgical technique of transplant (bicaval vs. biatrial anastomosis), previous cardiovascular surgeries, presenting symptoms, date of SVC stent placement, and need for reintervention. RESULTS: From March 1990 to June 2006, 5.1% (7/138) pediatric heart transplant recipients who were followed at our institution had SVC obstruction requiring stent placement. Median age and weight at transplant was 9 months and 8.7 kg, respectively. Four patients previously had a cavopulmonary anastomosis. Transplant surgery involved bicaval anastomosis in 6 and biatrial in 1. Of the 7 patients included in the study, 2 were asymptomatic, 2 were symptomatic (1 with chylothorax, 1 with headache), and 3 were identified at the time of transplant surgery. Median time from transplant surgery to SVC stent placement was 2 months (0-14 months). Three patients required reintervention as redilation of SVC stent (n = 1) or additional SVC stent (n = 2). In one patient the stent migrated to the pulmonary artery but was retrieved. CONCLUSION: SVC obstruction can be an important complication following heart transplantation, especially in infants with previous cavopulmonary anastomosis, undergoing heart transplant using bicaval technique. SVC obstruction can be safely and effectively treated using endovascular stents.

Noninvasive cerebral oximeter as a surrogate for mixed venous saturation in children.

We evaluated the relationship between regional cerebral oxygen saturation (rSO(2)) measured by near-infrared spectroscopy (NIRS) cerebral oximeter with superior vena cava (SVC), inferior vena cava (IVC), right atrium (RA), and pulmonary artery (PA) saturation measured on room air and 100% inspired oxygen administered via a non-rebreather mask (NRB) in children. Twenty nine pediatric post-orthotopic heart transplant patients undergoing an annual myocardial biopsy were studied. We found a statistically significant correlation between rSO(2) and SVC saturations at room air and 100% inspired oxygen concentration via NRB (r = 0.67, p = 0.0002 on room air; r = 0.44, p = 0.02 on NRB), RA saturation (r = 0.56, p = 0.002; r = 0.56, p = 0.002), and PA saturation (r = 0.67, p < 0.001; r = 0.4, p = 0.03). A significant correlation also existed between rSO(2) and measured cardiac index (r = 0.45, p = 0.01) and hemoglobin levels (r = 0.41, p = 0.02). The concordance correlations were fair to moderate. Bias and precision of rSO(2) compared to PA saturations on room air were -0.8 and 13.9%, and they were 2.1 and 15.6% on NRB. A stepwise linear regression analysis showed that rSO(2) saturations were the best predictor of PA saturations on both room air (p = 0.0001) and NRB (p = 0.012). In children with biventricular anatomy, rSO(2) readings do correlate with mixed venous saturation.

Adequacy of peritoneal dialysis in children following cardiopulmonary bypass surgery.

Acute renal failure requiring renal replacement therapy can complicate cardiopulmonary bypass in children. Peritoneal dialysis has been shown to stabilize electrolytes and improve fluid status in these patients. To assess dialysis adequacy in this setting, we prospectively measured Kt/V and creatinine clearance in five patients (6-839 days of age) requiring renal replacement therapy at our institution. Median dialysis creatinine clearance was 74.25 L/week/1.73m(2) (range 28.28-96.63 L/week/1.73m(2)). Residual renal function provided additional solute clearance as total creatinine clearance was 215.97 L/week/1.73m(2) (range 108.04-323.25 L/week/1.73m(2)). Dialysis Kt/V of >2.1 (median 4.84 [range 2.12-5.59]) was achieved in all patients. No dialysis-associated complications were observed. We conclude that peritoneal dialysis is a safe, simple method of providing adequate clearance in children who develop acute renal failure following exposure to cardiopulmonary bypass.