Biomedical subjects
Publications and source records attributed to M Hofbeck.
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UNLABELLED: The purpose of our study was to describe the prevalence and the clinical spectrum of monosomy 22q11.2 in a population of patients with pulmonary atresia and ventricular septal defect. We examined all 44 patients with this conotruncal cardiac malformation who presented to our institution from January 1994 until December 1997. The type of collateral lung perfusion was recorded including anomalies of the pulmonary arteries as well as facial and immunological abnormalities. Molecular-cytogenetic testing for a 22q11.2 microdeletion was performed using the probes D22S75 and cHKAD26. Statistical differences were evaluated with the Fisher's Exact Test. Monosomy 22q11.2 was present in ten children (23%) with major aortopulmonary collateral arteries (group 1). The remaining 13 children (29%) with major aortopulmonary collateral arteries (group 2) and all 21 children (48%) with ductus arteriosus (group 3) were negative for this microdeletion. All children in group 1 had facial anomalies, six had mild immunological abnormalities including decreased CD 4 + or CD 8 + cells. Anomalies of the pulmonary vascular bed were significantly more frequent in children of group 1 (9/10) than in children of group 2 (4/13) or group 3 (0/21). Due to these pulmonary vascular anomalies, corrective surgery had been accomplished in fewer children with monosomy 22q11.2 (none in group 1) as compared to 7/13 children in group 2 and 14/21 children in group 3. CONCLUSION: In children with pulmonary atresia and ventricular septal defect, monosomy 22q11.2 is preferentially associated with major aortopulmonary collateral arteries. Due to the higher incidence of pulmonary arterial abnormalities, successful surgical repair will require a different therapeutic approach in most patients with this microdeletion.
UNLABELLED: Protein-losing enteropathy is an important complication after right heart bypass operations (Fontan procedure). Laboratory examinations usually reveal hypoalbuminaemia, hypoproteinaemia, elevated alpha(1)-antitrypsin clearance, and lymphocytopenia. A case of protein-losing enteropathy after Fontan procedure is reported with a circumscribed protein loss in the region of the terminal ileum despite good haemodynamics. The patient developed only mild hypoalbuminaemia and no diarrhoea but severe cellular and humoral immune abnormalities, namely a markedly decreased proportion of CD4+ lymphocytes but normal proportion of CD8+ lymphocytes (CD4+ 14%, CD8+ 23%) and decreased serum levels of immunoglobulin G. Intestinal biopsies revealed normal mucosa. This report is unique as it is the first to describe a ratio of CD4+ to CD8+ lymphocytes <1 due to an almost selective loss of CD4+ lymphocytes and a circumscribed intestinal protein loss in a patient who developed protein-losing enteropathy after Fontan operation. CONCLUSION: There is a severe decrease of CD4+ lymphocytes of unknown origin in a patient with circumscribed intestinal protein loss after Fontan operation. Passive leakage of lymph fluid due to abnormal systemic venous pressure is not a sufficient explanation of the almost selective loss of CD4+ lymphocytes. Primary or secondary activation of the immune system may influence structural integrity and permeability of the intestinal wall and may play a triggering role in protein-losing enteropathy after the Fontan procedure.
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Interruption of the aortic arch (IAA) is a severe malformation of the heart with known association to DiGeorge syndrome (DGS) and 22q11.2 hemizygosity. The aim of this study was to establish incidence and significance of 22q11.2 hemizygosity in an unbiased sample of patients with IAA. All 15 children with IAA who were referred to our hospital in a 3-year period were tested by chromosome and fluorescence in situ hybridization (FISH) analysis with the probes D22S75, Tuplel, and cHKAD26 and by a set of 10 simple tandem repeat polymorphic (STRP) markers. In nine of 11 children with IAA type B, 22q11.2 hemizygosity was demonstrated by FISH and STRP analysis, but in none of the four children with type A. In all but one child, deletion size was approximately 3 Mb. The girl with the smaller deletion of approximately 1.5 Mb differed because of an Ullrich-Turner syndrome-like phenotype and severe T-cell defect. Additionally, in one patient with phenotypic signs of DGS, a small deletion distal to the known DGS region containing the marker D22S308 was suspected by STRP analysis. One deletion was shown to be inherited from a healthy father and one IAA type A recurred in a sib. T-cell anomalies were evident in eight of the nine children with classical deletion, five of whom suffered also from hypoparathyroidism. With respect to cause and clinical course, IAA type A and B were shown to represent different entities. This study showed that variable symptoms of 22q11.2 hemizygosity may cluster.
Deletions within chromosome band 22q11.2 are associated with a variety of conditions, although a simple genotype-phenotype correlation has not been established so far. Environmental factors, chance events, or a second hit theory were supported by two observations of monozygotic twins with 22q11.2 deletions and discordant phenotypes [Goodship et al., J Med Genet 1995;32:746-748; Fryer, J Med Genet 1996;33:173]. We present monozygotic twins concordant for 22q11.2 deletion and Cayler syndrome, favoring the view that there exists a predominant genetic determination of the del 22q11.2 phenotype. As these twins are diamniotic and dichorionic, they may offer a more reliable insight in genetic phenotype determination than the other published, probably monochorionic, twins who may have a discordant malformation by twinning itself.
We report on 2 infants with Ullrich-Turner syndrome in whom partial anomalous pulmonary venous drainage was diagnosed noninvasively by color-coded Doppler sonography. Several patients with the combination of anomalous drainage of one or more pulmonary veins and Ullrich-Turner syndrome have been described in the literature. However, in the majority of those previously reported cases the diagnosis of partial anomalous pulmonary venous drainage was established by angiography during cardiac catheterization performed for confirmation of other cardiovascular malformations. Our patients show that partial anomalous pulmonary venous drainage can be diagnosed easily in neonates and young infants, as long as this anomaly is taken into consideration.
UNLABELLED: In young children with renal artery stenosis the applicability of percutaneous transluminal angioplasty is limited by the small vessel size. We report our experience in a 15-month-old girl with severe hypertension, who underwent successful balloon dilatation of a tight renal artery stenosis caused by fibromuscular dysplasia. The procedure was performed using the guided co-axial balloon catheter technique with a 6 F right coronary Judkins catheter, a 0.014" guidewire and a 2 mm coronary artery balloon dilatation catheter. Antihypertensive medication was discontinued 6 weeks after the procedure. During a follow up period of 11 months, Doppler sonography revealed no evidence of recurrent renal artery stenosis. CONCLUSION: Percutaneous transluminal angioplasty of renal artery stenosis can be performed safely in young children using equipment originally designed for treatment of coronary artery stenosis in adults.
Despite a good haemodynamic result, many children have a mildly decreased arterial-oxygen saturation following a total cavopulmonary connection. Our study was performed to determine possible mechanisms of right-to-left shunting in these patients. We performed elective cardiac catheterization in 19 children at a mean interval of 3.6 years following a total cavopulmonary connection. The intrapulmonary right-to-left shunt, the intracardiac right-to-left shunt and the total right-to-left shunt were calculated under mechanical ventilation with 100% oxygen. The intrapulmonary right-to-left shunt was 10.8+/-3.5% of the pulmonary blood flow, and the total right-to-left shunt accounted for 18.9+/-5.2% of the systemic blood flow. The intracardiac right-to-left shunt in patients with no relevant venovenous collaterals or leaks in the atrial tunnel was calculated at 6.4+/-3.0% of the systemic blood flow, while the intracardiac right-to-left shunt in patients with relevant collaterals or leaks accounted for 13.0+/-5.9% of the systemic blood flow. Since intrapulmonary arteriovenous fistulas were not demonstrated angiographically in any of our patients, the intrapulmonary right-to-left shunt is probably due to low ratios of perfusion to ventilation in some pulmonary segments. The intracardiac right-to-left shunt was due to leaks across the interatrial baffle, collaterals between systemic and pulmonary veins, and to the coronary sinus draining to the pulmonary venous atrium.
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OBJECTIVE: To describe the morphology of the pulmonary arteries in patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries with and without monosomy 22q11. DESIGN: A retrospective analysis of all patients with this congenital heart defect who are being followed at the University Children's Hospital Erlangen. SETTING: A tertiary referral centre for paediatric cardiology and paediatric cardiac surgery. PATIENTS: 21 patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries. Monosomy 22q11 was diagnosed by fluorescent in situ hybridisation using the D22S75 probe (Oncor). The morphology of the pulmonary arteries was assessed on the basis of selective angiograms. RESULTS: 10 patients (48%) were shown to have a microdeletion in 22q11 (group I). There was no difference with respect to the presence of confluent central pulmonary arteries between these patients (80%) and the remaining 11 patients (group II) without monosomy 22q11 (91%). Patients of group I, however, more often had arborisation anomalies of the pulmonary vascular bed (90% in group I v 27% in group II). Because of the more severe abnormalities of the pulmonary arteries, a biventricular repair had not been possible in any of the children with monosomy 22q11, though repair had been carried out in 64% of the children in group II. CONCLUSION: The developmental disturbance caused by the monosomy 22q11 seems to impair the connection of the peripheral pulmonary artery segments to the central pulmonary arteries in patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries, resulting in a lower probability of biventricular repair.
OBJECTIVE: To compare the amount of furosemide needed to fulfil defined criteria for renal output if given intermittently or as a continuous infusion and to compare the effect of these two regimens on hemodynamic variables and urine electrolyte concentrations. DESIGN: Prospective randomized study of postoperative hemodynamically stable pediatric cardiac patients. The patients were given furosemide according to the urine output, either as an intermittent bolus injection or as a continuous infusion. SETTING: Pediatric intensive care unit in a university hospital. PATIENTS: The patients were randomly assigned before admission to either the intermittent i.v. or the continuous furosemide i.v. infusion group. MEASUREMENTS AND RESULTS: Demographic and hemodynamic data were recorded for a maximum of 72 h, as were furosemide dose, urine output, and fluid and inotropic drug requirements. Forty-six patients completed the study. Maximal hourly urine output was significantly higher in the intermittent group. A significantly lower dose of furosemide in the intermittent group produced the same 24-h urine volume as in the continuous infusion group. CONCLUSIONS: Intermittent furosemide administration may be recommended in hemodynamically stable postoperative pediatric cardiac patients because of less drug requirement. However, the high maximal urine output may cause hemodynamic problems in patients who depend on high inotropic support.
The intention of this study was to determine the efficacy and complication rate of the interventional duct occlusion. Furthermore, we wanted to compare the meanwhile well-known Rashkind-PDA-Occluder system (ROS) with the results of the considerably cheaper detachable duct occlude coils (PDA-S). For this purpose, we analyzed the data of 53 consecutive patients who received a total of 28 ROS and 25 PDA-S. The ROS was implanted in the slightly larger ducts (O 3.1 +/- 0.6 mm), the PDA-S in the smaller ones (O 2.2 +/- 0.6 mm). The rate of residual shunting was 20% in the ROS-group (follow-up: 104 to 1099 days, mean 580 +/- 300 days) and 7.7% in the PDA-S-group (follow-up: 90 to 384 days, mean 161 +/- 101 days). One patient after ROS showed a significant residual shunting and received 2.5 years after the first procedure a PDA-S which eliminated the shunt. In a second patient the attempt of implanting two coils in a 4 mm duct resulted in the embolization of the first coil into the right pulmonary artery. The coil could not be retrieved and was left in the pulmonary artery without sequelae. All other patients received only one ROS or one PDA-S. There were no further complications. The complication rate for all interventional duct occlusions therefore was 1.9% (0% for the ROS-group; 4.0% for the PDA-S-group). In comparison with the Gianturco coils that have been introduced since 1975, the new detachable coils can be manipulated much more easily, because they remain fixed at the delivery wire until an ideal position is achieved. Then the coil is set free by unscrewing it from the delivery wire. For small ducts with a diameter up to 3 mm the detachable coil is an effective and cheap alternative which can be handled easily. Because of the smaller delivery systems in comparison to the ROS (4-5 F versus 8 F or 11 F) the PDA-S is also suitable for small children and infants. larger ducts should be closed with the ROS.
Major systemicopulmonary collateral arteries (spca) frequently contribute to collateral lung perfusion in patients with pulmonary atresia and ventricular septal defect or in children with tetralogy of Fallot. Since the surgical access to these vessels is difficult, corrective surgery may become impossible. We report our experience with interventional occlusion of spca in 10 patients. In these patients (age range 13 months-19.5 years) selective injections demonstrated a total of 27 spca. Sixteen of these were coil-occluded by interventional cardiac catheterization. Total occlusion was achieved in 15 cases, in one case we found a small residual shunt. Occlusion was performed using platinum coils (2 cases), Gianturco coils (11 cases) and detachable steel coils (4 cases, including 1 with prior incomplete occlusion by Gianturco coils). 4 patients required 2 interventional cardiac catheterizations. Complications occurred only in procedures that were performed with conventional coils (peripheral pulmonary embolizations of platinum coils in 2 patients, dislocation of the delivery catheter with a partially extruded coil to the descending aorta in 1 patient). Operative ligation had to be performed in 6 spca, since those vessels were not suitable for interventional occlusion. The remaining 5 spca were left unoccluded, since they were of minor hemodynamic relevance due to a subsequent decrease in size. At the end of the follow-up period corrective surgery had been completed in 8 of our 10 patients. In the remaining 2 patients corrective surgery is planned in the near future. According to our experience interventional occlusion of spca is a major improvement in the management of a selected cohort of patients with pulmonary atresia and ventricular septal defect or tetralogy of Fallot. The introduction of detachable steel coils facilitates the embolization of those vessels.
Although carditis associated with Mycoplasma pneumoniae is infrequent it is an important cause of death in M. pneumoniae infections. We report on a 4-year-old boy with a M. pneumoniae infection, who developed a large hemorrhagic pericardial effusion and was successfully treated by percutaneous catheter drainage. Except in cancer patients, nontraumatic hemorrhagic pericardial effusions are rare. Our case strongly supports direct bacterial invasion into pericardial tissue as a cause of M. pneumoniae pericarditis rather than autoimmune phenomenon.
BACKGROUND: Long-term nasogastric tube feeding is often associated with irritation of the hypopharynx or dislocation of the tube. These pitfalls may be circumvented by percutaneous endoscopic gastrostomy. Although frequently used in adults, there is limited experience with the procedure in children. METHODS: A series of 139 patients (aged 3 weeks to 36.5 years, mean age, 4.4 years; weight 3.1-60 kg, mean weight, 15 kg) underwent placement of a percutaneous endoscopic gastrostomy because of central dysphagia (n = 103); general dystrophy caused by chronic renal failure, congenital heart disease, neoplasms, or cystic fibrosis (n = 26); requirement for special diets (n = 7); malnutrition related to respiratory insufficiency (n = 2); and gastric volvulus (n = 1). RESULTS: The percutaneous endoscopic gastrostomy was placed either in the stomach (n = 122) or in the duodenum (n = 15). In two patients a direct percutaneous endoscopic jejunostomy was performed, because duodenal placement proved impossible. Percutaneous endoscopic gastrostomies were placed using intravenous sedation (midazolam, etomidate, or diazepam). None of the patients required general or inhalation anesthesia. We observed 19 complications including: dislocation of the duodenal part into the stomach (n = 5); inflammation at the insertion site (n = 3); perforation of the stomach (n = 2), which healed under conservative treatment; disconnection of the retention disk (n = 4); occlusion of the tube (n = 4), and chronic vomiting (n = 1). Mean lifetime of a percutaneous endoscopic gastrostomy was more than 1 year. CONCLUSIONS: Percutaneous endoscopic gastrostomy provides a major improvement for children requiring long-term tube feeding. High efficacy and low rates of complication suggest that percutaneous endoscopic gastrostomy should be considered more often, even in infants.
OBJECTIVE: To describe prenatal abnormalities of cardiac rhythm in patients with prolonged QT interval in the neonatal period. DESIGN: A retrospective analysis of the results of fetal echocardiography and the outcome in patients with prolonged QT interval in the neonatal period who had been referred for prenatal evaluation. SETTING: Two university hospitals. PATIENTS: Nine patients with prolonged QT interval in the neonatal period who had been referred for prenatal evaluation. Fetal echocardiograms were obtained from 24 to 40 weeks of gestation. Indications were fetal bradycardia (five patients), a family history of long QT syndrome (two patients), and complex arrhythmias (two patients). RESULTS: Seven fetuses had persistent sinus bradycardia without ventricular arrhythmias (heart rates 70-120 beats/ min). Five patients were treated with propranolol, after the diagnosis had been established by postnatal electrocardiogram (ECG). One of these patients died suddenly at the age of 3 weeks, after the treatment had been stopped because of profound bradycardia. One of the remaining two patients who did not receive propranolol had a syncope at the age of 6 weeks. Two fetuses presented with frequent runs of ventricular tachycardia and intermittent bradycardia caused by intermittent, functional second degree atrioventricular block. Both patients died on the first day of life despite treatment with propranolol and transvenous temporary pacing. CONCLUSIONS: Sinus bradycardia in an otherwise normal fetus may be a symptom of long QT syndrome. Postnatal ECGs and a family examination are strongly recommended in these children. In fetuses with frequent runs of ventricular tachycardia and intermittent second degree atrioventricular block long QT syndrome should be suspected prenatally. These high risk patients should be delivered in centres with a paediatric cardiology unit.
OBJECTIVE: To assess changes in size of the central pulmonary arteries following a total cavopulmonary connection (TCPC). DESIGN: A retrospective analysis of the angiographic diameters of the central pulmonary arteries, expressed as z scores, in infancy before the TCPC and 3.5 (0.9) years (mean (SD)) later. Analysis of the relation between the pulmonary arteriolar resistance and the z scores at follow up. SETTING: Tertiary referral centre. PATIENTS: 32 patients who had TCPC from February 1990 to July 1993. RESULTS: The patients were divided into two groups (n = 16) depending on their preoperative flow ratio: group I, Qp/Qs < or = 1; group II, Qp/Qs > 1. At the initial study in infancy the mean z scores in group I were -6.0 for the right pulmonary artery (RPA) and -9.6 for the left pulmonary artery (LPA); in group II the respective values were -2.7 and -3.0. Before the TCPC the values increased to 0.5 (RPA) and -0.5 (LPA) in group I, and to 8.8 (RPA) and 8.2 (LPA) in group II. At follow up the z scores decreased to -2.4 (RPA) and -4.9 (LPA) in group I, and to 2.2 (RPA) and -0.7 (LPA) in group II. The changes in pulmonary artery diameters were significant for both groups (p < 0.02). Following the TCPC, no significant difference in pulmonary arteriolar resistance index was found between patients with relatively small pulmonary arteries (z score RPA + LPA < or = 0) and those with relatively large pulmonary arteries (z score RPA + LPA > 0). CONCLUSIONS: Creation of a TCPC results in a significant reduction in size of the central pulmonary arteries. At a mean interval of 3.5 years following the TCPC, however, there was no significant difference in pulmonary arteriolar resistance index between patients with smaller and larger central pulmonary arteries.