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.

Genotype-Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care.

Currently, no reliable genotype-phenotype correlation is available for pediatric Marfan patients in everyday clinical practice. We investigated correlations of FBN1 variants with the prevalence and age of onset of Marfan manifestations in childhood and differentiated three groups: missense/in-frame, splice, and nonsense/frameshift variants. In addition, we differentiated missense variants destroying or generating a cysteine (cys-missense) and alterations not affecting cysteine. We categorized 105 FBN1-positive pediatric patients. Patients with cys-missense more frequently developed aortic dilatation (p = 0.03) requiring medication (p = 0.003), tricuspid valve prolapse (p = 0.03), and earlier onset of myopia (p = 0.02) than those with other missense variants. Missense variants correlated with a higher prevalence of ectopia lentis (p = 0.002) and earlier onset of pulmonary artery dilatation (p = 0.03) than nonsense/frameshift, and dural ectasia was more common in the latter (p = 0.005). Pectus excavatum (p = 0.007) appeared more often in patients with splice compared with missense/in-frame variants, while hernia (p = 0.04) appeared earlier in the latter. Findings on genotype-phenotype correlations in Marfan-affected children can improve interdisciplinary therapy. In patients with cys-missense variants, early medical treatment of aortic dilatation seems reasonable and early regular ophthalmologic follow-up essential. Patients with nonsense/frameshift and splice variants require early involvement of orthopedic specialists to support the growing child.

The impact of shunt type on palliative outcomes in neonates and infants with diminished pulmonary blood flow.

We analyzed early and intermediate outcomes in cyanotic neonates (n = 43) and infants (n = 26) requiring palliation with either a modified Blalock-Taussig shunt (MBT) or a central aortopulmonary shunt (CAP). Between 1995 and 2009, 69 consecutive patients underwent an MBT (n = 42) or CAP (n = 27) for tetralogy of Fallot (n = 21), pulmonary atresia (n = 25), severe pulmonary valve stenosis (n = 22), and 2-stage repair of transposition of the great arteries (n = 1). The groups were similar with regard to age, weight, pulmonary artery diameter, and preoperative saturations. Postoperative mortality was 3 after CAP (11.1%) versus 1 after MBT (2.4%; P = .0203). Shunt size/weight index was comparable for both groups. MBTs had shorter surgical times (P = .002), required less inotropes (inotropic index, 103 ± 18 vs 889 ± 199; P = .0069), less blood product transfusions (P = .01), and had shorter duration of ventilation (P = .026) and intensive care unit (ICU) stay (P = .042). Children with MBTs had higher saturations at hospital discharge (P = .018). Prior to complete repair, 2 patients with a CAP and 10 patients after an MBT needed pulmonary artery dilation or stent implantation (P = .23). At the time of complete repair and shunt takedown, 3 MBT patients needed surgical patch augmentation of the pulmonary artery. The MBT is a safer and more expeditious operation and more frequently avoids cardiopulmonary bypass. Patients require less inotropes, blood products, and ICU time but may require more interventional therapy to treat pulmonary artery stenosis in the interval to complete repair. Surgical treatment of shunt-related pulmonary artery distortion may be addressed at the time of complete repair.