The economic value of rapid deployment aortic valve replacement via full sternotomy

Aim: To compare the economic value of EDWARDS INTUITY EliteTM (EIE) valve system for rapid-deployment aortic valve replacement (RDAVR) in a full sternotomy (FS) approach (EIE-FS-RDAVR) versus FS-AVR using conventional stented bioprosthesis. Data & methods: A simulation model to compare each treatment’s 30-day inpatient utilization and complication rates utilized: clinical end points obtained from the TRANSFORM trial patient subset (EIE-FS-RDAVR) and a best evidence review of the published literature (FS-AVR); and costs from the Premier database and published literature. Results: EIE-FS-RDAVR costs $800 less than FS-AVR per surgery episode attributable to lowered complication rates and utilization. Combined with the lower mortality, EIE-FS-RDAVR was a superior (dominant) technology versus FS-AVR. Conclusion: This preliminary investigation of EIE-FS-RDAVR versus conventional FS- AVR found the EIE valve offered superior economic value over a 30-day period. Real- world analyses with additional long-term follow-up are needed to evaluate if this result can be replicated over a longer timeframe

Case Report Maternal Perception of Decreased Fetal Movement in One Twin: A Clue Leading to the Early Detection of Absent Variability due to Acute Twin-to-Twin Transfusion Syndrome

Decreased fetal movement (DFM) perceived by pregnant women sometimes indicates imminent fetal jeopardy. It is unknown whether this also holds true for twin pregnancy. A 27-year-old primiparous woman with monochorionic diamniotic (MD) pregnancy had a slight difference of amniotic fluid volume at 31 2/7 weeks of gestation. DFM only in one twin at 31 4/7 weeks of gestation prompted her to receive urgent consultation. Since cardiotocogram indicated absent variability of one twin, we performed Cesarean section. Male infants weighing 2060 g and 1578 g were delivered; hemoglobin was 20.7 versus 10.8 g/dL, respectively; cardiothoracic ratio was 70% versus 44%, respectively, indicating acute twin-to-twin transfusion syndrome (TTTS). The recipient infant had heart failure, which was still observed at 1 month postpartum. In conclusion, maternal perception of DFM indicated imminent fetal death or jeopardy caused by acute TTTS, suggesting that education regarding DFM for women with twin pregnancy may be clinically important

Impact of concomitant aortic regurgitation on long-term outcome after surgical aortic valve replacement in patients with severe aortic stenosis

<p>Abstract</p> <p>Background</p> <p>Prognostic value of concomitant aprtic regurgitation (AR) in patients operated for severe aortic stenosis (AS) is not clarified. The aim of this study was to prospectively examine the impact of presence and severity of concomitant AR in patients operated for severe AS on long-term functional capacity, left ventricular (LV) function and mortality.</p> <p>Methods</p> <p>Study group consisted of 110 consecutive patients operated due to severe AS. The patients were divided into AS group (56 patients with AS without AR or with mild AR) and AS+AR group (54 patients with AS and moderate, severe or very severe AR). Follow-up included clinical examination, six minutes walk test (6MWT) and echocardiography 12 and 104 months after AVR.</p> <p>Results</p> <p>Patients in AS group had lower LV volume indices throughout the study than patients in AS+AR group. Patients in AS group did not have postoperative decrease in LV volume indices, whereas patients in AS+AR group experienced decrease in LV volume indices at 12 and 104 months. Unlike LV volume indices, LV mass index was significantly lower in both groups after 12 and 104 months as compared to preoperative values. Mean LVEF remained unchanged in both groups throughout the study. NYHA class was improved in both groups at 12 months, but at 104 months remained improved only in patients with AS. On the other hand, distance covered during 6MWT was longer at 104 months as compared to 12 months only in AS+AR group (p = 0,013), but patients in AS group walked longer at 12 months than patients in AS+AR group (p = 0,002). There were 30 deaths during study period, of which 13 (10 due to cardiovascular causes) in AS group and 17 (12 due to cardiovascular causes) in AS+AR group. Kaplan-Meier analysis showed that the survival probability was similar between the groups. Multivariate analysis identified diabetes mellitus (beta 1.78, p = 0.038) and LVEF < 45% (beta 1.92, p = 0.049) as the only independent predictor of long-term mortality.</p> <p>Conclusion</p> <p>Our data indicate that the preoperative presence and severity of concomitant AR has no influence on long-term postoperative outcome, LV function and functional capacity in patients undergoing AVR for severe AS.</p

Spectrum of PEX1 and PEX6 variants in Heimler syndrome

Heimler syndrome (HS) consists of recessively inherited sensorineural hearing loss, amelogenesis imperfecta (AI) and nail abnormalities, with or without visual defects. Recently HS was shown to result from hypomorphic mutations in PEX1 or PEX6, both previously implicated in Zellweger Syndrome Spectrum Disorders (ZSSD). ZSSD are a group of conditions consisting of craniofacial and neurological abnormalities, sensory defects and multi-organ dysfunction. The finding of HS-causing mutations in PEX1 and PEX6 shows that HS represents the mild end of the ZSSD spectrum, though these conditions were previously thought to be distinct nosological entities. Here, we present six further HS families, five with PEX6 variants and one with PEX1 variants, and show the patterns of Pex1, Pex14 and Pex6 immunoreactivity in the mouse retina. While Ratbi et al. found more HS-causing mutations in PEX1 than in PEX6, as is the case for ZSSD, in this cohort PEX6 variants predominate, suggesting both genes play a significant role in HS. The PEX6 variant c.1802G>A, p.(R601Q), reported previously in compound heterozygous state in one HS and three ZSSD cases, was found in compound heterozygous state in three HS families. Haplotype analysis suggests a common founder variant. All families segregated at least one missense variant, consistent with the hypothesis that HS results from genotypes including milder hypomorphic alleles. The clinical overlap of HS with the more common Usher syndrome and lack of peroxisomal abnormalities on plasma screening suggest that HS may be under-diagnosed. Recognition of AI is key to the accurate diagnosis of HS