Long-term outcome of perimembranous VSD closure using the Nit-Occlud® Lê VSD coil system.

OBJECTIVE: This study presents data from the admission trial to show the feasibility, safety and effectiveness of the Nit-Occlud® Lê VSD in the treatment of perimembranous ventricular septal defects with an aneurysmal configuration and a diameter up to 8 mm. BACKGROUND: The majority of ventricular septal defects (VSD) are still closed surgically, while a less invasive transcatheter treatment by closure devices is available. Device-based closure is reported to be associated with the risk of complete atrio-ventricular block, especially with double-disc devices in perimembranous defects. METHODS: In six tertiary centers in Germany and Israel, an interventional closure of a periembranous VSD was attempted in 88 patients using the Nit-Occlud® Lê VSD. RESULTS: The interventional VSD closure was performed in 85 patients. Patients had a median age of 8.0 (2-65) years and a median body weight of 26.7 (10-109) kg. A complete closure of the defects was achieved in 85.4% 2 weeks after device implantation, in 88.9% after three months and in 98.6% at the 5-year follow-up. There was no incidence of death during the study nor did any patient suffer of permanent atrio-ventricular block of higher degree. Serious adverse events, by definition, are potentially life-threatening or require surgery to correct, while major serious events require medical or transcatheter intervention to correct. The study results exhibit a serious adverse event rate of 3.5% (3/85 patients) and a major adverse event rate of 5.9% (5/85 patients). CONCLUSION: The Nit-Occlud® Lê VSD coil offers the possibility of an effective and safe approach in patients with aneurysmal perimembranous ventricular septal defects.

[Tachycardiac arrhythmia in children without congenital heart diseases]. / Tachykarde Herzrhythmusstörungen bei Kindern ohne angeborene Herzfehler.

Based on invasive electrophysiological studies and ablation procedures of tachycardias in children and adolescents, the understanding and knowledge of the different tachycardia substrates have significantly increased in recent years. This article describes the underlying pathophysiological mechanisms together with the expected changes in electrocardiogram (ECG) of the four most common types of supraventricular tachycardia in children and adolescents without congenital heart defects: atrioventricular reentrant tachycardia, atrioventricular nodal reentrant tachycardia, focal atrial tachycardia and permanent junctional reentrant tachycardia. Furthermore, idiopathic ventricular tachycardia is described. The incidence, clinical symptoms, natural course and prognosis of each particular tachycardia will be specified . The pharmacological and interventional treatment will be the focus of other reports in this issue. Finally, the current recommendations for the approach to asymptomatic children and adolescents with preexcitation are discussed according to the current guidelines.

Frequency and spectrum of congenital heart defects among live births in Germany : a study of the Competence Network for Congenital Heart Defects.

BACKGROUND: Congenital heart defects (CHD) are the most common single organ malformations in humans. A comprehensive study was initiated within the Competence Network for Congenital Heart Defects to assess population-based nationwide prevalence data for Germany. METHODS: Study register of demographic and medical data of live births with CHD born between July 2006 and June 2007. RESULTS: Seven thousand two hundred forty-five live births and infants with CHD were registered in Germany by 260 participating institutions (prevalence 107.6 per 10,000 live births). The most common lesions were ventricular septal defect, atrial septal defect and valvular pulmonary stenosis with 52.7, 18.3 and 6.6 per 10,000 live births, respectively. A single ventricle, tetralogy of Fallot and the complete transposition of the great arteries were the most common severe cardiac lesions (3.0, 2.7 and 2.3 per 10,000 live births). Parents reported that prenatal echocardiography had been performed in 53.8% of severe CHD cases with a cardiac defect detected in 77.5% of them. CONCLUSION: The reported prevalences of severe CHD are within the range of regional and European comparative data. The prenatal detection rate of severe cardiovascular malformations is comparable to contemporary European registries. Postnatal diagnosis of the CHD has been made early in life.

Mechanisms of disease/hypothesis: neurogenic left ventricular dysfunction and neurogenic pulmonary oedema.

BACKGROUND: Acute onset of cardiovascular dysfunction may be the result of insults to the central nervous and autonomic system. Several cerebral regions (insular cortex, lateral, hypothalamus, and brain stem) have been identified as part of the "central autonomic network". The brain stem plays an integral role in controlling and mediating autonomic tone. PATIENT AND METHODS: Case reports. RESULTS: These two case reports demonstrate the intimate connectivity between the cardiovascular/pulmonary system and the central nervous system in a 13-year-old girl with occipital angiomatosis, but no history of heart disease who developed profound left ventricular dysfunction and pulmonary oedema following pontine haemorrhage, and in a 5-year-old girl who developed severe pulmonary oedema after suffering from status epilepticus. CONCLUSIONS: The two case reports suggest that cardiovascular dysfunction secondary to central nervous insults and neurogenic pulmonary oedema are not two separate clinical entities, but may very well encompass two different presentations of central autonomic disturbances.

A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin.

Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disorder in which patients display tortuosity of arteries in addition to hyperextensible skin, joint laxity, and other connective tissue features. This syndrome is caused by mutations in the SLC2A10 gene. In this article we describe an ATS girl of Kurdish origin who, in addition to arterial tortuosity and connective tissue features, displays stomach displacement within the thorax and bilateral hip dislocation. Clinical details of this patient have been reported previously. Sequencing of the SLC2A10 gene identified a novel homozygous non-sense c.756C>A mutation in this patient's DNA. This mutation in the SLC2A10 gene replaces a cysteine encoding codon with a stop signal. This is believed to cause a premature truncation of GLUT10 protein in this patient. We conclude that patients of Kurdish origin who display arterial tortuosity associated with skin hyperextensibility, joint hypermobility, and characteristic facial features may carry mutations in the SLC2A10 gene.

NT-pro-B-type natriuretic peptide in infants and children: reference values based on combined data from four studies.

In cardiology, B-type natriuretic peptide and the amino terminal segment of its prohormone (NT-proBNP) are important biomarkers. The importance of these peptides as markers for heart disease in pediatric cardiology is reviewed. The peptide levels are dependent on age, assay, and possibly gender. The normal value range and upper limits for infants and children are needed. To determine reference values, data were combined from four studies that measured NT-proBNP levels in normal infants and children using the same electrochemiluminescence assay. The age intervals for the upper limits of normal were chosen for intervals in which no age-dependent change was observed. Statistical analysis was performed on log-transformed data. A total of 690 subjects (47% males) ages birth to 18 years were included in the review. The levels of NT-proBNP were highest in the first days of life, then showed a marked decline in the first week or weeks. The peptide levels continued to decline gradually with age (r = 0.43; p < 0.001). Male and female levels differed only for children ages 10 to 14 years. However, the upper limit of normal did not differ between the boys and girls in any age group. The findings lead to the conclusion that B-type natriuretic peptide (BNP) and NT-proBNP are important markers for heart disease in pediatric cardiology. The levels of NT-proBNP are highest in the first days of life and decrease drastically thereafter. A mild gradual decline occurs with age throughout childhood. Girls have somewhat higher levels of NT-proBNP during puberty.

Predictors of outcome in patients with suspected myocarditis.

BACKGROUND: The objective of this study was to identify the prognostic indicators in patients with suspected myocarditis who underwent endomyocardial biopsy. METHODS AND RESULTS: Between 1994 and 2007, 181 consecutive patients (age, 42+/-15 years) with clinically suspected viral myocarditis were enrolled and followed up for a mean of 59+/-42 months. Endomyocardial biopsies were studied for inflammation with histological (Dallas) and immunohistological criteria. Virus genome was detected by polymerase chain reaction. The primary end point was time to cardiac death or heart transplantation. In 38% of the patients (n=69), the Dallas criteria were positive. Immunohistological signs of inflammation were shown in 50% (n=91). Genomes of cardiotropic virus species were detected in 79 patients (44%). During follow-up, 22% of the patients (n=40) reached the primary end point. Three independent predictors were identified for the primary end point, namely New York Heart Association class III or IV at entry (hazard ratio, 3.20; 95% confidence interval, 1.36 to 7.57; P=0.008), immunohistological evidence of inflammatory infiltrates in the myocardium (hazard ratio, 3.46; 95% confidence interval, 1.39 to 8.62; P=0.008), and beta-blocker therapy (hazard ratio, 0.43; 95% confidence interval, 0.21 to 0.91; P=0.027). Ejection fraction, left ventricular end-diastolic pressure, and left ventricular end-diastolic dimension index were predictive only in univariate, not in multivariate, analysis. Neither the Dallas criteria nor the detection of viral genome was a predictor of outcome. CONCLUSIONS: For patients with suspected myocarditis, advanced New York Heart Association functional class, immunohistological signs of inflammation, and lack of beta-blocker therapy, but not histology (positive Dallas criteria) or viral genome detection, are related to poor outcome.

Bicuspidization of the unicuspid aortic valve: a new reconstructive approach.

BACKGROUND: Unicuspid anatomy of the aortic valve is infrequent but may require intervention by age 40 for severe regurgitation. We propose a new repair technique for the regurgitant unicuspid valve by converting it into a bicuspid aortic valve. METHODS: Between November 2003 and September 2007, 20 patients underwent regurgitant unicuspid aortic valve repair: 13 had aortic regurgitation (AR) and 7 had combined regurgitation and stenosis. Four patients had previously undergone balloon valvuloplasty for critical aortic stenosis. The aim of the repair was to construct a bicuspid valve with two normal commissures and unrestricted cusp motion. The fused cusp tissue was divided anteriorly and a new commissure of normal height was created. Noncoronary and right coronary cusps were extended with autologous pericardium. Concomitant operations included ascending aortic replacement in 7 and resection of subaortic stenosis in 1. RESULTS: No early or late deaths occurred. Intraoperative echocardiography revealed minimal or no AR in 19 patients. Follow-up was 4 to 47 months. One patient underwent valve re-repair for recurrent and progressive aortic regurgitation 3 years postoperatively. All other valves remained stable throughout the follow-up period. Freedom from relevant aortic insufficiency (> or = II) at 4 years was 77%; freedom from reoperation was 67%; and freedom from valve replacement was 100%. CONCLUSIONS: The regurgitant unicuspid aortic valve can be repaired successfully and reproducibly by converting it into bicuspid anatomy. The functional results are comparable with those obtained in reconstructed bicuspid aortic valves. With this approach, replacement can be avoided in most patients with regurgitant unicuspid aortic valves.

Noninvasive assessment of liver fibrosis in patients with Fontan circulation using transient elastography and biochemical fibrosis markers.

OBJECTIVE: Studies have shown that patients with failing Fontan circulation may develop liver cirrhosis with its sequelae. Therefore, early detection of fibrosis is essential to identify patients at risk. Transient elastography has been evaluated for noninvasive staging of liver fibrosis in a multitude of studies. METHODS: A total of 39 patients who underwent the Fontan procedure were included in the study. All patients underwent an abdominal ultrasound, transient elastography, and detailed laboratory testing. Conventional echocardiography assessment of inflow and outflow and ventricular function were performed. RESULTS: Significant signs of liver fibrosis were found in 36 of 39 children according to the elastography method and in 28 of 39 children according to the measured biochemical fibrosis markers. The Spearman correlation coefficient between the liver stiffness measured with transient elastography and the time interval since the Fontan operation was highly significant (0.514, P = 0.001). CONCLUSION: The present study shows that patients who undergo the Fontan procedure are at increased risk of developing liver fibrosis and liver cirrhosis. The risk increases with the age of the patient and the time interval since the Fontan procedure. The noninvasive measurement of liver fibrosis using transient elastography and fibrosis marker scores can be a useful tool to identify patients at risk and for noninvasive surveillance.

CE-MRA in paediatric patients.

Contrast enhanced magnetic resonance angiography (CE-MRA) is an established diagnostic method for evaluating vascular disease in adults. However, the use of MRA techniques has spread more slowly in children owing to significant technical challenges in the paediatric population. This article discusses the indications for CE-MRA in paediatric patients, the techniques employed and the imaging findings expected from MRA of children with vascular disease. In particular, the application of "time-resolved" CE-MRA is discussed and clinical case examples are provided to highlight the broad clinical application of this technique in paediatric vascular disease.