Effectiveness of neonatal pulse oximetry screening for detection of critical congenital heart disease in daily clinical routine—results from a prospective multicenter study

Pulse oximetry screening (POS) has been proposed as an effective, noninvasive, inexpensive tool allowing earlier diagnosis of critical congenital heart disease (cCHD). Our aim was to test the hypothesis that POS can reduce the diagnostic gap in cCHD in daily clinical routine in the setting of tertiary, secondary and primary care centres. We conducted a prospective multicenter trial in Saxony, Germany. POS was performed in healthy term and post-term newborns at the age of 24–72 h. If an oxygen saturation (SpO2) of ≤95% was measured on lower extremities and confirmed after 1 h, complete clinical examination and echocardiography were performed. POS was defined as false-negative when a diagnosis of cCHD was made after POS in the participating hospitals/at our centre. From July 2006–June 2008, 42,240 newborns from 34 institutions have been included. Seventy-two children were excluded due to prenatal diagnosis (n = 54) or clinical signs of cCHD (n = 18) before POS. Seven hundred ninety-five newborns did not receive POS, mainly due to early discharge after birth (n = 727; 91%). In 41,445 newborns, POS was performed. POS was true positive in 14, false positive in 40, true negative in 41,384 and false negative in four children (three had been excluded for violation of study protocol). Sensitivity, specificity, positive and negative predictive value were 77.78%, 99.90%, 25.93% and 99.99%, respectively. With POS as an adjunct to prenatal diagnosis, physical examination and clinical observation, the percentage of newborns with late diagnosis of cCHD was 4.4%. POS can substantially reduce the postnatal diagnostic gap in cCHD, and false-positive results leading to unnecessary examinations of healthy newborns are rare. POS should be implemented in routine postnatal care

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

RATIONALE: Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart defect which affects approximately 1 in 4,000 live births. While there are several reports of D-TGA patients with rare variants in individual genes, the majority of D-TGA cases remain genetically elusive. Familial recurrence patterns and the observation that most cases with D-TGA are sporadic suggest a polygenic inheritance for the disorder, yet this remains unexplored. OBJECTIVE: We sought to study the role of common single nucleotide polymorphisms (SNPs) in risk for D-TGA. METHODS AND RESULTS: We conducted a genome-wide association study in an international set of 1,237 patients with D-TGA and identified a genome-wide significant susceptibility locus on chromosome 3p14.3, which was subsequently replicated in an independent case-control set (rs56219800, meta-analysis P=8.6x10-10, OR=0.69 per C allele). SNP-based heritability analysis showed that 25% of variance in susceptibility to D-TGA may be explained by common variants. A genome-wide polygenic risk score derived from the discovery set was significantly associated to D-TGA in the replication set (P=4x10-5). The genome-wide significant locus (3p14.3) co-localizes with a putative regulatory element that interacts with the promoter of WNT5A, which encodes the Wnt Family Member 5A protein known for its role in cardiac development in mice. We show that this element drives reporter gene activity in the developing heart of mice and zebrafish and is bound by the developmental transcription factor TBX20. We further demonstrate that TBX20 attenuates Wnt5a expression levels in the developing mouse heart. CONCLUSIONS: This work provides support for a polygenic architecture in D-TGA and identifies a susceptibility locus on chromosome 3p14.3 near WNT5A. Genomic and functional data support a causal role of WNT5A at the locus

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.

RATIONALE: Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart defect which affects approximately 1 in 4,000 live births. While there are several reports of D-TGA patients with rare variants in individual genes, the majority of D-TGA cases remain genetically elusive. Familial recurrence patterns and the observation that most cases with D-TGA are sporadic suggest a polygenic inheritance for the disorder, yet this remains unexplored. OBJECTIVE: We sought to study the role of common single nucleotide polymorphisms (SNPs) in risk for D-TGA. METHODS AND RESULTS: We conducted a genome-wide association study in an international set of 1,237 patients with D-TGA and identified a genome-wide significant susceptibility locus on chromosome 3p14.3, which was subsequently replicated in an independent case-control set (rs56219800, meta-analysis P=8.6x10 CONCLUSIONS: This work provides support for a polygenic architecture in D-TGA and identifies a susceptibility locus on chromosome 3p14.3 nea

Stent implantation of left main coronary artery stenosis in an infant: Effective long-term treatment?

Coronary artery stenosis is a rare phenomenon in children. Coronary stent implantation is generally not considered a standard treatment option due to technical difficulties and potential complications in this group of patients. Nevertheless, several pediatric cases reporting successful implantation with acceptable short-term experiences have been described. The following case presents a successful stent implantation for left main coronary artery (LMCA) stenosis early after surgery for anomalous left coronary artery from pulmonary artery (ALCAPA) at the age of 6 months. The excellent mid-term results and notably the procedure′s potential as a long-term treatment in small children are highlighted. A 6-month-old infant underwent surgery for ALCAPA. Due to sudden postoperative deterioration, cardiac catheterization was performed. Coronary angiography revealed severe (90%) ostial LMCA stenosis. A PROMUS drug-eluting stent (Promus Element AL3.0 Χ 8 mm, Boston Scientific, Natick, Massachusetts, USA) was implanted. The procedure was performed without complications. Antiplatelet therapy with acetylsalicylic acid and clopidogrel was initiated. Subsequently, cardiac function improved slowly. Cardiac catheterization 3 years 8 months after stent implantation showed no restenosis with a proximal LMCA diameter still at the 50 th percentile for age. Neither were signs of heart failure reported at the last follow-up at 7 years of age. Presupposing normal growth, the implanted stent would thus provide sufficient myocardial perfusion with a LMCA lumen at the 40 th percentile at the age of 16 years. In selected cases, coronary stent implantation may be an effective mid- to long-term treatment of coronary artery stenosis even in very young children

Performance of steroid eluting bipolar epicardial leads in pediatric and congenital heart disease patients: 15 years of single center experience

OBJECTIVE: Cardiac pacing is sometimes required for patients with congenital heart disease for various reasons. Because of complex anatomy, repetitive previous heart surgery and patient size, epicardial leads are of special importance in these patients. Using epicardial leads has been discussed controversly regarding pacing performance and lead survival. The aim of this study was to review the long-term data on pacing performance as well as lead survival of epicardial leads implanted in our center. METHODS: Retrospective chart review and review of the literature. RESULTS: 82 consecutive pediatric patients or adult patients with congenital heart disease with 158 epicardial leads (Medtronic 4968, bipolar, steroid - eluting) were included. We found 1.2% pacemaker-related early postoperative complications. The incidence of lead dysfunction was 7.5% (12/158) for primary (i.e. directly related to the lead itself) lead dysfunction and 3.2% (5/158) of lead abandonment for reasons not directly related to the lead itself. Primary lead dysfunction occured after a median of 3.83 years. Lead survival at 2, 5 and 10 years was 98.7%, 93% and 92.4%. There were no infections reported. Stable median measurements for impedance (RA/RV/LV of 577/483/610 Ohm), sensing threshold (RA/RV/LV of 2.0/11.0/10.0 mV) and pacing threshold (RA/RV/LV of 0.75 V at 0.4 ms/1.0 V at 0.49 ms/1.0 V at 0.45 ms) indicated a good mid- to longterm performance. The only risk factor for primary lead dysfunction was young age at implantation. CONCLUSION: The use of epicardial leads in pediatric and adult patients with congenital heart disease shows good longterm outcomes in terms of pacing performance and lead survival. The authors encourage using epicardial leads in patients with congenital heart disease based on the patient‘s individual characteristics

Additive manufacturing with high-performance materials and light-weight structures by laser metal deposition and laser infiltration: Blog Beitrag

In laser metal deposition, parts are generated by use of a large variety of different alloys in industrial fields such as aviation, energy, tooling or medical technology. Due to permanently increasing requirements (e. g. enhanced system efficiencies or environmental standards) in almost all fields of applications the use of very high-performance materials, which unfortunately tend to have a high crack-sensitivity, is more and more required. In addition the placement of metallic materials on composite structures (e. g. CFRP) is a challenging but interesting material combination due to the light weight of the resulting structure. In this paper, processing of these material combinations is discussed and examples of (potential) applications are shown