Prenatal diagnosis of giant cardiac rhabdomyoma in tuberous sclerosis complex: a new therapeutic option with everolimus.

Tuberous sclerosis complex (TSC) is a genetic disorder characterized by abnormal cell proliferation and tumor growth in a number of organ systems, primarily the brain, kidneys, eyes and heart. Clinical symptoms vary according to the location of the tumor. The most common disorders are seizures, neurodevelopmental disorders, renal failure and arrhythmias. TSC was found to be influenced by inhibitors of the protein kinase mammalian target of rapamycin (mTOR), which regulates abnormal cellular proliferation. mTOR inhibitors have been studied effectively in patients with subependymal giant-cell astrocytomas and renal angiolipomas in the context of TSC. We describe a prenatally diagnosed case of giant rhabdomyoma, due to right ventricular outflow tract obstruction, which presented as a duct-dependent lesion. Postnatal treatment with the mTOR inhibitor everolimus initiated significant regression of the cardiac tumor. This finding suggests that mTOR inhibitor therapy is an option for giant rhabdomyomas that develop in the neonatal period.

Balloon valvuloplasty in the treatment of congenital aortic valve stenosis--a retrospective multicenter survey of more than 1000 patients.

BACKGROUND: The value of balloon valvuloplasty of the aortic valve in childhood is still under debate. OBJECTIVE: To evaluate the results of the procedure in a retrospective multicenter survey of a large cohort over a long time interval. METHODS: Retrospective analysis of 1004 patients with balloon valvuloplasty of the aortic valve performed between 9/1985 and 10/2006 at 20 centers in Germany, Austria and Switzerland. Amongst others, the following parameters were evaluated before and after the procedure as well as at the end of follow-up or before surgery: clinical status, left ventricular function, transaortic pressure gradient, degree of aortic regurgitation, freedom from re-intervention or surgery. PATIENTS: Patients from 1 day to 18 years of age with aortic valve stenosis were divided into four groups: 334 newborns (1-28 days); 249 infants (29-365 days); 211 children (1-10 years), and 210 adolescents (10-18 years). RESULTS: Median follow-up was 32 months (0 days to 17.5 years). After dilatation the pressure gradient decreased from 65 (± 24)mm Hg to 26 (± 16)mm Hg and remained stable during follow-up. The newborns were the most affected patients. Approximately 60% of them had clinical symptoms and impaired left ventricular function before intervention. Complication rate was 15% in newborns, 11% in infants and 6% in older children. Independently of age, 50% of all patients were free from surgery 10 years after intervention. CONCLUSIONS: In this retrospective multicenter study, balloon valvuloplasty of the aortic valve has effectively postponed the need for surgery in infants, children and adolescents up to 18 years of age.

Fenestration in extracardiac conduits in children after modified Fontan operation by implantation of stent grafts.

Three patients (ages 3, 5, and 8 years) with various forms of functionally univentricular heart lesions received a total cavopulmonary connection with an extracardiac conduit as a final reconstructive procedure. Failure of the Fontan circulation occurred immediately after surgery because of spontaneous closure of surgical fenestrations in two children and absent fenestration in one. As an emergency procedure, in all patients the conduit was perforated by transcatheter intervention in order to create a connection to the anatomical right atrium. Following balloon dilatation of the perforated conduit, in all three patients covered stent grafts were placed in the newly created defect to attain a reliable communication. Patency of the fenestration was demonstrated by angiogram and any leakage was ruled out. Cardiac output improved and severe pleural effusion and ascites subsided. Right-to-left shunt could be demonstrated by echocardiography at follow-up after 7 months (median) in all three patients. Oxygen saturation remained stable between 85 and 90%. These preliminary results suggest that stent graft fenestration can serve as a valuable tool in failing Fontan circulation, particularly in patients with an extracardiac conduit. Covered stents have the potential to reduce the acute risk of bleeding and they help to prevent early spontaneous closure of the newly created fenestration.

Stenting of the ductus arteriosus and banding of the pulmonary arteries: basis for various surgical strategies in newborns with multiple left heart obstructive lesions.

OBJECTIVE: To present an institutional experience with stent placement in the arterial duct combined with bilateral banding of the pulmonary artery branches as a basis for various surgical strategies in newborns with hypoplastic left heart obstructive lesions. DESIGN: Observational study. SETTING: Paediatric heart centre in a university hospital. PATIENTS: 20 newborns with various forms of left heart obstructive lesions and duct dependent systemic blood flow. INTERVENTIONS: Patients underwent percutaneous ductal stenting and surgical bilateral pulmonary artery banding. Atrial septotomy by balloon dilatation was performed as required, in one premature baby by the transhepatic approach. MAIN OUTCOME MEASURES: Survival; numbers of and reasons for palliative and corrective cardiac surgery. RESULTS: One patient died immediately after percutaneous ductal stenting. One patient died in connection with the surgical approach of bilateral pulmonary banding. Stent and ductal patency were achieved for up to 331 days. Two patients underwent heart transplantation and two patients died on the waiting list. Ten patients had a palliative one stage procedure with reconstruction of the aortic arch and bidirectional cavopulmonary connection at the age of 3.5-6 months. There was one death. One patient is still awaiting this approach. Two patients received biventricular repair. In one, biventricular repair will soon be provided. CONCLUSIONS: Stenting the arterial duct combined with bilateral pulmonary artery banding in newborns with hypoplastic left heart or multiple left heart obstructive lesions allows a broad variation of surgical strategies depending on morphological findings, postnatal clinical conditions, and potential ventricular growth.

[Reopening of a persistent left superior vena cava in the early postoperative period following bidirectional cavopulmonary anastomosis--treatment by coil embolization]. / Frühpostoperative Eröffnung einer linkspersistierenden oberen Hohlvene nach bidirektionaler cavopulmonaler Konnektion - Coilembolisation als Therapie der Wahl.

Diagnosis of systemic venous drainage is mandatory for patients with congenital heart disease planned for cavopulmonary anastomosis or any Fontan-type palliation. Preexisting venous channels as the persistent left superior vena cava are common in cardiac anomalies and may lead to postoperative deterioration and cyanosis. We describe a 6 month old boy with a complex imbalanced atrioventricular septal defect who developed cyanosis in the very early postoperative period, following bidirectional cavopulmonary anastomosis. It was caused by ineffective lung perfusion due to a reopened persistent left superior vena cava with drainage to the coronary sinus.He underwent coil embolization of the persistent left superior vena cava with retrievable coils and cyanosis improved. Coil embolization is an effective alternative to secondary surgery, especially for hemodynamically compromised patients in the postoperative period.

[Heart transplantation in infancy: experiences at the Giessen Pediatric Heart Center]. / Herztransplantation im Säuglingsalter: Erfahrungen am Kinderherzzentrum Giessen.

From June 1988 to December 1996 heart transplantations were performed in 36 newborns and infants below one year of age. Diagnosis were hypoplastic left heart syndrome (n = 26), endocardial fibroelastosis (n = 4), cardiomyopathy (n = 3), and other complex congenital heart defects (n = 3). Mean waiting time for transplantation was 52 days, the mean donor-recipient bodyweight ratio was 1.8. Seven patients (19%) died after transplantation mainly within the first month after transplantation. The cumulative probability of survival is 79% in all patients. The influence of increasing experience is indicated when patients transplanted from 1988-1993 (n = 15) are compared with transplants from 1994-1996 (n = 21). The overall survival in the first group was 50%, whereas patients transplanted from 1994 showed a probability of survival of 92%. The 1-year survival rate in the later group was 100%. In 20 patients a total of 31 rejection episodes were observed. 2 infants died due to rejection. 71% of all rejections occurred during the first month after transplantation. Renal function was slightly impaired one year after transplantation in all patients without tendency for deterioration in the sequel. The somatic development is normal in nearly all infants and the quality of life is excellent. All infants live at home without any restrictions. Two patients, however, suffer from a neurologic deficit. Until now there is no evidence of coronary vascular disease or malignancy. Heart transplantation is in our opinion a reconsiderable alternative in the treatment of complex cardiac disease and cardiomyopathy in infants.

Percutaneous closure of secundum atrial septal defect with a new self centering device ("angel wings").

OBJECTIVE: To investigate the safety, efficacy, and clinical application of a new self centering device ("angel wings") for closure of secundum atrial septal defects (ASD II) and persistent foramen ovale in all age groups. DESIGN: Multicentre, prospective, nonrandomised study. INCLUSION CRITERIA: defects with an occlusive diameter of < or = 20 mm and a surrounding rim of > 4 mm; body weight > 10 kg; and an indication for surgical closure of secundum atrial septal defect. Additionally, there were compassionate indications for closure in patients with persistent foramen ovale. INTERVENTIONS: Defects were closed by a transcatheter device consisting of two square frames made of superelastic nitinol wire. The frames are covered by elastic polyester fabric, which is sewn together at a central circle. All procedures, except for three interventions that were carried out under sedation, were performed under general anaesthesia using transoesophageal echocardiography and fluoroscopy to monitor intervention. RESULTS: Closure was attempted in 75 (71%) of 105 patients. An ASD II was present in 35 children and 15 adults. A persistent foramen ovale was present in 25 adults with suspected paradoxical embolism. Transcatheter closure was unsuccessful in three children and crossover to surgery was required. Residual shunts were found in 20 patients (27%) immediately after the procedure. A transient atrioventricular third degree block occurred in three patients (4%) and the right atrial disk was not fully deployed in three. A minor shunt (< 3 mm) was present in only three (4%) of 72 patients during follow up of 1-17 months. Blood clots on the right atrial disks in two patients (one required lysis) were seen during follow up transoesophageal echocardiography. Serious complications demanding surgical removal of the device occurred in three patients. One patient had haemopericardial tamponade because of an aortic lesion. Left atrial thrombus formation due to an unfolded right atrial disk was found in a second patient and dislodgement of the left atrial disk resulted in a large residual shunt in a third. CONCLUSIONS: Percutaneous closure of a central ASD with a diameter < or = 20 mm in paediatric and adult patients is feasible and effective with this new device. It is a promising alternative to surgical closure. Modifications of the design, however, seem to be mandatory as 4% of patients developed serious complications.

[Analgosedation with fentanyl/midazolam after correction of congenital heart defects]. / Analgosedierung mit Fentanyl/Midazolam nach Korrektur angeborener Herzfehler.

There is no standard therapy in the management of postoperative pain control following corrective cardiac surgery of congenital heart disease. Assessment in the preverbal age is difficult. In a randomized study we compared a combined treatment of fentanyl and midazolam, given as continuous infusion versus single dose application. A pain assessment score was used to measure the effectiveness of analgosedation in addition to recording nurseries observations. Fentanyl and midazolam are an appropriate combination for postoperative pain treatment. Continuous application is considered to be more effective concerning basic anxiety, cumulative dosage and to avoid volume overload in infants and young children, following cardiac surgery; overdosage was not observed.

Norepinephrine, enoximone, and nitric oxide for treatment of myocardial stunning and pulmonary hypertension in a newborn with diaphragmatic hernia.

A newborn with right diaphragmatic hernia suffered myocardial stunning and suprasystemic pulmonary hypertension secondary to postpartal asphyxia. In addition to conventional therapy, norepinephrine, enoximone, and inhalational nitric oxide were successfully used. Norepinephrine improved myocardial perfusion pressure; the addition of enoximone, a phosphodiesterase-inhibitor, to beta-adrenergic agents increased cardiac performance. with decreasing concentrations of inhalational nitric oxide, severe pulmonary hypertension resolved after a few days, suggesting that transient endothelial dysfunction was partially responsible for pulmonary vasoconstriction in the newborn with congenital diaphragmatic hernia.