Our results suggested that both agents were effective to reduce postoperative blood loss and transfusion requirements in patients with cyanotic congenital heart disease. However, the combination of aprotinin and tranexamic acid did not seem more effective than either of the two drugs alone.

Patients with BA have subclinical right ventricular diastolic dysfunction even in the early stages. The severity of the functional impairment is parallel with the severity of the disease. Tissue Doppler echocardiography has a greater predictive value than conventional imaging, and is useful for evaluating ventricular function in patients with BA.

The purpose of this study was to evaluate the safety and efficacy of transcatheter atrial septal defect (ASD) closure guided by transthoracic echocardiography (TTE). Since 2004, ASD closure was performed successfully in total 337 patients. Transthoracic echocardiography guidance was used in 206 patients (61.1%) (group 1). Closure was guided by transesophageal echocardiography under general anesthesia in patients with poor transthoracic acoustic windows, defects with aneurysmatic septum and/or multiple defects in 131 patients (38.9%) (group 2). The median age (9 vs. 16 years, P < 0.001), mean defect diameter (14.9 ± 4 vs. 17.2 ± 5 mm, P < 0.001), ratio of complex atrial septal defect (14 vs. 34%, P = 0.01), the median balloon stretch dimensions (21 vs. 18.7 mm, P = 0.003) and the median device diameters (22 vs. 19 mm, P < 0.001) were significantly greater in group 2 compared to group 1. Both the median procedure time and the median fluoroscopy time was significantly shorter in group 1 (60 vs. 75; and 13 vs. 16.5 min; P < 0.0001 and P < 0.0001, respectively). The incidence of residual shunt did not differ significantly in two groups during follow up. Transthoracic echocardiography guidance during transcatheter ASD closure is safe and effective in children and in many adults. Even complex ASDs could be closed with TTE in patients with good acoustic windows. Performing the procedure under TTE guidance significantly reduces procedure time and also provides increased patient's comfort.

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ÖZETAmaç: Yetişkin ve çocuklarda Cheatham-Platinum stent implantasyonu ile tedavi edilen nativ ve rekürren aort koarktasyonu olgularının erken ve kısa dönem sonuçlarını sunmayı amaçladık. Yöntemler: Ağustos 2007-Kasım 2009 tarihleri arasında 45 hastaya 47 stent yerleştirildi. Koarktasyon tanısı alıp müdahale endikasyonu olan adölesan ve yetişkin hastalarda ilk tercih olarak, 5 yaş üzerindeki çocuklarda ise subatretik veya kör koarktasyon varlığı, önceki tedaviye bağlı anevrizma gelişimi, eşlik eden patent duktus arteriyozus veya yeniden daralma durumlarında stent implantasyonu tercih edildi. Stent implantas- ABSTRACTObjective: To present our institutional experience of endovascular Cheatham-Platinum stent implantation in children and adults with native and recurrent aortic coarctation. Methods: Between August 2007 and November 2009, 45 patients had aortic coarctation treated with 47 stents implantation. We preferred primarily stent implantation in adult patient with coarctation, in children more than five years-old it is preferred in cases of aneurysm, subatretic or blind coarctation and coarctation with patent ductus arteriosus or in restenosis. Files of stent-implanted patients were retrospectively analyzed in terms of patients' demographic features, echocardiographic and angiographic findings both before and after procedure. Patients grouped as Group 1: native coarctation and Group 2: recoarctation developed after either surgery or balloon angioplasty. Findings of the cases' were compared using paired and unpaired Student's t, Mann-Whitney U and Chi-square tests. Results: Sixteen covered and 31 bare totally 47 balloon expandable stents were implanted in 45 patients. The mean follow up duration was 12.1±7.1, median 11 months (2-29 months). There was no procedure related death. In two patients two stents were implanted in tandem. While the coarctation of the aorta was native in 26 patients (functionally interrupted aortic arch in one), recoarctation was detected in 7 patients after surgery, in 8 patients after balloon angioplasty, in 4 patients both after surgery and balloon angioplasty. One patient had functionally interrupted aortic arch perforated with guide wire and then covered stent implanted. The mean age 12.2±5.9 years (5-33 years) and mean body mass index was 21±3.7 kg/m 2 (14.8-31 kg/m 2 ). Considering all cases, a statistically significant decrease in both the invasive and echocardiographic gradients (p<0.001 for both) and statistically significant increase in lesion diameter (p<0.001) were detected. The decrease in invasive and echocardiographic gradients and increase in lesion diameter is statistically significant in each group also (p<0.001, <0.001 and <0.001 for both groups, respectively). Before the procedure, the invasive gradient was significantly higher and the lesion diameter was significantly lower in group I than in group II (p=0.002 and p=0.005, respectively). Also the percentage of decrease in gradient and increase in diameter was statistically higher in group 1 than in group 2 (p=0.04 a...

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Primary cardiomyopathy is one of the most common inherited cardiac diseases and harbors significant phenotypic and genetic heterogeneity. Because of this, genetic testing has become standard in treatment of this disease group. Indeed, in recent years, next-generation DNA sequencing has found broad applications in medicine, both as a routine diagnostic tool for genetic disorders and as a high-throughput discovery tool for identifying novel disease-causing genes. We describe a male infant with primary dilated cardiomyopathy who was diagnosed using intrauterine echocardiography and found to progress to hypertrophic cardiomyopathy after birth. This proband was born to a nonconsanguineous family with a past history of a male fetus that died because of cardiac abnormalities at 30 wk of gestation. Using whole-exome sequencing, a novel homozygous frameshift mutation (c.2018delC; p.Gln675SerfsX30) in ALPK3 was identified and confirmed with Sanger sequencing. Heterozygous family members were normal with echocardiographic examination. To date, only two studies have reported homozygous pathogenic variants of ALPK3, with a total of seven affected individuals with cardiomyopathy from four unrelated consanguineous families. We include a discussion of the patient's phenotypic features and a review of relevant literature findings.