Vladimir Alexi-Meskishvili

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Background: We sought to assess left ventricular regional function in patients with and without left ventricular wall scar tissue in the long term after repair of an anomalous origin of the left coronary artery from the pulmonary artery. Methods: A total of 20 patients aged 12.8 +/- 7.4 years were assessed 10 (0.5-17) years after the repair of an anomalous origin of the left coronary artery from the pulmonary artery; of them, 10 (50%) patients showed left ventricular wall scar tissue on current cardiac MRI. Left ventricular regional function was assessed by two-dimensional speckle-tracking echocardiography in 10 patients with scar tissue and 10 patients without scar tissue and in 10 age-matched controls. Results: In patients with scar tissue, MRI-derived left ventricular ejection fraction was significantly reduced compared with that in patients without scar tissue (51 versus 61%, p < 0.05), and echocardiography-derived longitudinal strain was significantly reduced in five of six left ventricular areas compared with that in healthy controls (average relative reduction, 46%; p < 0.05). In patients without scar tissue, longitudinal strain was significantly reduced in two of six left ventricular areas (average relative reduction, 23%; p < 0.05) and circumferential strain was reduced in one of six left ventricular areas (relative reduction, 56%; p < 0.05) compared with that in healthy controls. Conclusions: Regional left ventricular function is reduced even in patients without left ventricular wall scar tissue late after successful repair of an anomalous origin of the left coronary artery from the pulmonary artery. This highlights the need for meticulous lifelong follow-up in all patients with a repaired anomalous origin of the left coronary artery from the pulmonary artery.

Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. Its genetic basis is demonstrated by an increased recurrence risk in siblings and familial cases. However, the majority of TOF are sporadic, isolated cases of undefined origin and it had been postulated that rare and private autosomal variations in concert define its genetic basis. To elucidate this hypothesis, we performed a multilevel study using targeted re-sequencing and whole-transcriptome profiling. We developed a novel concept based on a gene's mutation frequency to unravel the polygenic origin of TOF. We show that isolated TOF is caused by a combination of deleterious private and rare mutations in genes essential for apoptosis and cell growth, the assembly of the sarcomere as well as for the neural crest and secondary heart field, the cellular basis of the right ventricle and its outflow tract. Affected genes coincide in an interaction network with significant disturbances in expression shared by cases with a mutually affected TOF gene. The majority of genes show continuous expression during adulthood, which opens a new route to understand the diversity in the long-term clinical outcome of TOF cases. Our findings demonstrate that TOF has a polygenic origin and that understanding the genetic basis can lead to novel diagnostic and therapeutic routes. Moreover, the novel concept of the gene mutation frequency is a versatile measure and can be applied to other open genetic disorders.

The use of modified extracardiac Fontan operation (ECFO) for total cavo-pulmonary connection allows cardiopulmonary bypass (CPB) to be avoided and seems to improve early postoperative results. We evaluated our experience with the off-pump technique for ECFO. Since 2009, the last 17 consecutive patients of 137 (median age 3.2 years, median weight 14.5 kg) in whom no intracardiac surgery was necessary underwent ECFO without CPB. The non-fenestrated graft was connected end-to-side to the pulmonary artery without bypass; subsequently temporary passive inferior vena cava (IVC)-to-atrial bypass was used for the anastomosis between IVC and graft. The perioperative and postoperative course was compared between consecutive paediatric patients operated on using the CPB vs off-pump technique. There was no mortality in the off-pump group, with a total early mortality of 3.0%. Overall operation time for the Fontan operation using the off-pump technique was significantly reduced (160 vs 200 min, P < 0.001). The median Fontan pressure 24 and 48 h postoperatively was significantly lower in the off-pump group (P = 0.002/0.042). Duration of mechanical ventilation (9 vs 14 h, P = 0.016), pleural effusions (4 vs 8 days, P < 0.001) as well as the median intensive care unit (2 vs 4 days, P = 0.013) and hospital stay (median 10 vs 15 days, P < 0.001) was significantly shorter in patients who underwent the off-pump Fontan operation. The necessity of blood transfusions was significantly reduced with the off-pump in comparison with the on-pump technique (14 of 17 vs 34 of 84 patients, P = 0.003). The ECFO without CPB is an established low-risk surgical procedure that improves the early postoperative course and significantly reduces the use of blood products and the duration of pleural effusions in selected patients.

Objectives The EUCon study was designed to identify risk factors for distal anastomotic stenosis after bovine jugular vein (Contegra) implantation in children. Methods Between March 2006 and August 2008, 104 devices were implanted in nine European centers. Preoperative, intraoperative, and follow-up data (at discharge, 6, 12, 24 months) including standardized echocardiography were prospectively registered, source data verified and collected in a central database. Main endpoint was distal stenosis (either postvalvular gradient of ≥50 mm Hg or need for intervention for distal stenosis). Eight potential risk factors (age <2 years, diagnosis, running suture, use of glue, flapless anastomosis, oversizing less than + 2 z, anticoagulation, implantation site) were investigated. Cox regression, decision tree analyses, and “Clustering by Response” were applied. Results Patient age ranged from 0 to18 years, mean 6.0 ± 6.1, median 3.2 years. Implantation reasons: 88% congenital malformations, 12% Ross operations. Follow-up was 88.3% complete. Durability (freedom from death, reoperation, degeneration, endocarditis, and explantation) compared well to corresponding homograft literature. Sixteen patients reached study endpoints. Age <2 years was the only invariably significant risk factor (p = 0.044); “Clustering By Response” found young anticoagulated patients with oversized conduits to be at a higher risk than the others (p = 0.018, OR = 3.2). Conclusion Patient age is the main risk factor for development of distal anastomosis stenosis after Contegra implantation. The influence of the other investigated factors is too small to be proven in 104 patients after 2 years, or other risk factors must be taken into consideration to explain outcome differences among recipients under 2 years.