Aymé‐Gripp syndrome is a multisystemic disorder caused by a heterozygous variation in the MAF gene (OMIM*177075). Key features are congenital cataracts, sensorineural hearing loss, and a ...characteristic facial appearance. In a proportion of individuals, pericardial effusion or pericarditis has been reported as part of the phenotypic spectrum. In the present case, a large persistent cytokine‐enriched pericardial effusion was the main pre‐ and postnatal symptom that led to the clinical and later molecular diagnosis of Aymé‐Gripp syndrome. In the postnatal course, the typical Aymé‐Gripp syndrome‐associated features bilateral cataracts and hearing loss were diagnosed. We propose that activating dominant variants in the cytokine‐modulating transcription factor c‐MAF causes cytokine‐enriched pericardial effusions possibly representing a key feature of Aymé‐Gripp syndrome.
Although vascular plugs allow the interventional closure of medium-sized to large abnormal vessels, their application is limited by the need for long sheaths or large guiding catheters. The authors ...report their experience with the new Amplatzer vascular plug 4 (AVP 4), a self-expanding spindle-shaped occluder made of Nitinol wire mash, which can be placed through 4-Fr catheters with an internal diameter of 0.038 in. or larger. From October 2009 until June 2012, 14 AVP 4 devices were deployed in 12 patients (ages, 0.3–48.8 years). Nine patients had venovenous or arteriovenous collaterals in functional univentricular hearts. One patient had pulmonary atresia with a ventricular septal defect and major aortopulmonary collateral arteries, and one patient had a pulmonary arteriovenous fistula. One child had a large coronary artery fistula to the right atrium. The authors used AVP 4 devices with diameters of 4–8 mm. In all the patients, the AVP 4 was implanted successfully. No occluder dislocations and no complications related to the procedure occurred. Complete vessel occlusion was achieved in seven cases. In seven additional cases, a residual shunt was present at the end of the procedure while the patients were still fully heparinized. In 2 of 14 vessels, the decision was made to place additional devices to abolish residual shunting. According to the authors’ experience, the AVP 4 allows safe and effective occlusion of medium-size and large abnormal vessels. It is also well suited for tortuous high-flow vessels such as coronary or pulmonary arteriovenous fistulas. In case of a suboptimal position, it is possible to reposition the occluder with ease. Further studies are needed to determine whether initial residual shunting in heparinized patients disappears during follow-up care. The AVP 4 represents a valuable new device for the interventional treatment of complex congenital vessel malformations.
Myocarditis represents an important cause for acute heart failure. MYKKE, a prospective multicenter registry of pediatric patients with myocarditis, aims to gain knowledge on courses, diagnostics, ...and therapy of pediatric myocarditis. The role of mechanical circulatory support (MCS) in children with severe heart failure and myocarditis is unclear. The aim of this study was to determine characteristics and outcome of patients with severe heart failure requiring MCS and/or heart transplantation. The MYKKE cohort between September 2013 and 2016 was analyzed. A total of 195 patients were prospectively enrolled by 17 German hospitals. Twenty‐eight patients (14%) received MCS (median 1.5 years), more frequently in the youngest age group (0‐2 years) than in the older groups (P < 0.001; 2‐12 and 13‐18 years). In the MCS group, 50% received a VAD, 36% ECMO, and 14% both, with a survival rate of 79%. The weaning rate was 43% (12/28). Nine (32%) patients were transplanted, one had ongoing support, and six (21%) died. Histology was positive for myocarditis in 63% of the MCS group. Patients within the whole cohort with age <2 years and/or ejection fraction <30% had a significantly worse survival with high risk for MCS, transplantation, and death (P < 0.001). Myocarditis represents a life‐threatening disease with an overall mortality of 4.6% in this cohort. The fulminant form more often affected the youngest, leading to significantly higher rate of MCS, transplantation, and mortality. MCS represents an important and life‐saving therapeutic option in children with myocarditis with a weaning rate of 43%.
The aim of this registry is to provide data on age-related clinical features of suspected myocarditis and to create a study platform allowing for deriving diagnostic criteria and, at a later stage, ...testing therapeutic interventions in patients with myocarditis.
After an initial 6-month pilot phase, MYKKE was opened in June 2014 as a prospective multicenter registry for patients from pediatric heart centers, university hospitals, and community hospitals with pediatric cardiology wards in Germany. Inclusion criteria consisted of age<18 years and hospitalization for suspected myocarditis as leading diagnosis at the discretion of the treating physician. By December 31, 2015, fifteen centers across Germany were actively participating and had enrolled 149 patients. Baseline data reveal 2 age peaks (<2 years, >12 years), show higher proportions of males, and document a high prevalence of severe disease courses in pediatric patients with suspected myocarditis. Severe clinical courses and early adverse events were more prevalent in younger patients and were related to severely impaired leftventricular ejection fraction at initial presentation.
MYKKE represents a multicenter registry and research platform for children and adolescents with suspected myocarditis that achieve steady recruitment and generate a wide range of real-world data on clinical course, diagnostic workup, and treatment of this group of patients. The baseline data reveal the presence of 2 age peaks and provide important insights into the severity of disease in children with suspected myocarditis. In the future, MYKKE might facilitate interventional substudies by providing an established collaborating network using common diagnostic approaches.
Abstract Purpose The purpose of this study is to analyze the combined approach of endovascular and open surgical procedures for insertion of permanent central venous catheters in children with ...intestinal failure and end-stage venous access. Methods Data of 14 children (16 interventions) with intestinal failure and end-stage venous access, treated within the pediatric intestinal rehabilitation program at our institution between September 2011 and November 2016, were retrospectively reviewed. The patients underwent hybrid endovascular/open surgical approaches for insertion of central venous catheters. Access to central veins was established through endovascular intervention; catheter placement was achieved with combined interventional and surgical measures depending on the individual vascular conditions. Results Median age at intervention was 47 months (interquartile range (IQR),29–74), median time for interventions was 66 min (IQR,42–111). Catheter placement was successfully achieved in all patients. The median dose of irradiation during angiography was 0.2 Gy*cm2 (IQR, 0.2–0.6), no complications occurred during or after interventions. Conclusions Hybrid endovascular/open surgical procedures can be successfully applied for restoring or maintaining permanent central venous catheters in children with intestinal failure and end-stage venous access. These approaches are a valuable contribution in intestinal rehabilitation programs contributing to a further decrease of the need for intestinal transplantation in affected patients. Type of study Treatment Study. Level of evidence Level IV.
Aims The aim of this registry is to provide data on age-related clinical features of suspected myocarditis and to create a study platform allowing for deriving diagnostic criteria and, at a later ...stage, testing therapeutic interventions in patients with myocarditis. Study design and results After an initial 6-month pilot phase, MYKKE was opened in June 2014 as a prospective multi-centre registry for patients from paediatric heart centres, university hospitals and community hospitals with paediatric cardiology wards in Germany. Inclusion criteria consisted of age< 18 years and hospitalisation for suspected myocarditis as leading diagnosis at the discretion of the treating physician. By December 31st 2015, fifteen centres across Germany were actively participating and had enrolled 149 patients. Baseline data reveal two age peaks (< 2 years, >12 years), show higher proportions of males, and document a high prevalence of severe disease courses in paediatric patients with suspected myocarditis. Severe clinical courses and early adverse events were more prevalent in younger patients and were related to severely impaired left-ventricular ejection fraction at initial presentation. Summary MYKKE represents a multi-centre registry and research platform for children and adolescents with suspected myocarditis that achieves steady recruitment and generates a wide range of real-world data on clinical course, diagnostic work-up, and treatment of this group of patients. The baseline data reveal the presence of two age peaks and provide important insights into the severity of disease in children with suspected myocarditis. In the future, MYKKE might facilitate interventional substudies by providing an established collaborating network using common diagnostic approaches. Trial registration ClinicalTrials.gov NCT02590341
Standard methods for determination of cardiac output (CO) are either invasive or technically demanding. Measurement of CO by the inert gas–rebreathing (IGR) method, applied successfully in adults, ...uses a low-concentration mixture of an inert and a blood-soluble gas, respectively. This study tested the feasibility of this method for determining CO during exercise for pediatric patients with complete congenital atrioventricular block (CCAVB) stimulated with a VVI pacemaker. In this study, 5 CCAVB patients (age 9.2–17.4 years) were compared with 10 healthy age-matched boys and girls. Testing was performed with the Innocor system. The patients were instructed to breathe the test gas from a closed system. Pulmonary blood flow was calculated according to the washout of the soluble gas component. During standardized treadmill testing, CO was determined at three defined levels. The CO measurements were successful for all the study participants. The patients reached a lower peak CO than the control subjects (5.9 l/min/m
2
vs 7.3 boys and 7.2 girls). The stroke volume increase under exercise also was reduced in the patients compared with the control subjects. The feasibility of the IGR method for exercise CO testing in children was documented. Application of the IGR method for children requires careful instruction of the patients and appears restricted to subjects older than 8 years. The method offers new insights into mechanisms of cardiovascular adaptation in children with congenital heart disease.
Enoxaparin displays fibrinolytic activity through stimulation of endothelial release of tissue plasminogen activator. Moreover, enoxaparin increases the release of tissue factor pathway inhibitor, ...which inhibits coagulation activity. However, there are only few reports regarding the use of enoxaparin for the treatment of children with thrombosis complicating congenital heart disease. We report the clinical findings from two patients, one child with an A. cerebri media infarction and another with a left ventricular thrombus. In both cases successful thrombolysis was obtained by intravenous administration of enoxaparin. The first patient was a 12-year-old girl with an atrioventricular septal defect, who underwent biventricular repair at the age of 8 months. She presented with right-sided middle cerebral artery infarction. Thrombolysis was contraindicated, because she was beyond the therapeutic window recommended by accepted guidelines. Enoxaparin 2.5 mg/kg/d was administered as a continuous intravenous infusion (CII). The MRI 10 days later revealed a reopened middle cerebral artery and she experienced complete remission of the neurological signs. The second patient was a 16-year-old boy who had tetralogy of Fallot corrected in late infancy. He presented with severe heart failure and a mural thrombus in the left ventricular apex. Enoxaparin was administered and resulted in complete disappearance of the thrombus within a week. According to our experience, CII of enoxaparin was safe and well tolerated without secondary bleeding and resulted in complete dissolution of the thrombi without secondary embolization. Therefore, CII of enoxaparin may be a possible alternative for the treatment of thrombotic complications in children with contraindications against conventional thrombolytic therapy.
In the majority of patients, secundum atrial septal defects (ASDs) are treated interventionally or surgically, before the onset of clinical symptoms, between 3 and 6 years of age. Because ...right-ventricular dimensions usually normalize after ASD closure, it has been assumed that cardiac function and exercise performance also normalize at long-term follow-up. The aim of our study was to determine cardiac index (CI) at rest and during exercise at medium-term follow-up of children who had undergone surgical or interventional closure of ASD because no such reports have been published thus far. Seventeen patients (age range 8.8–17.3 years) who underwent surgical correction were included together with 17 subjects who received an interventional procedure with Amplatzer and Helex occluders (age range 12.2–17.3 years). The study was performed after a median interval of 8.6 years (range 6.5–11.6) after the procedure. Twelve healthy children of comparable age served as controls. CI measurements were performed based on the inert gas-rebreathing method with the Innocor system. For exercise testing, the standard treadmill protocol of the German Society of Pediatric Cardiology was used. CI, stroke volume (SV), and heart rate (HR) were determined at rest and at two standardized submaximal exercise levels (levels 3 and 6). CI increased in all subjects under exercise conditions. Neither SV nor HR displayed significant differences between the three groups either at rest or under exercise conditions. Although HR increased continuously, no increase of indexed SV occurred beyond level 3. Noninvasive determination of CI at rest and during exercise with the IGR method is feasible in the pediatric age group. At medium-term follow-up, we found no significant differences between patients who underwent surgical or interventional ASD closure compared with normal controls.
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