Congenital heart defects and postoperative follow-up of patients with Williams syndrome as a single center experience and review of the cases from Türkiye.

BACKGROUND: Cardiovascular system involvement is quite common and the leading cause of morbidity and mortality in patients with Williams syndrome (WS), most of whom need surgery. The present study aimed to provide a detailed evaluation of the features of surgical procedures and outcomes of patients with WS given as single-center experience, and additionally to make a detailed review from Türkiye. MATERIALS AND METHODS: Thirty-five children with WS diagnosed between the years 1992 and 2021 were evaluated retrospectively including cardiovascular data, surgical treatment features, and outcomes. A total of six articles from Türkiye were evaluated. RESULTS: A total of 35 patients with Williams Syndrome (24 male) with a median age of cardiologic diagnosis of 6 months (range, 2 days-6 years) were evaluated. The cardiac defects of the patients with WS were found as supravalvular aortic stenosis (SVAS) (n=30, 85%) and peripheral pulmonary stenosis (PPS) (n=21, 65%). Additional cardiac anomalies were seen in 71% patients. The rate of SVAS and PPS surgery in all patients with WS was 77.1%. The median surgical age of the patients was 2.5 years (range, 7 months-15.5 years). No patients died due to surgery. But one patient died because of ventricular tachycardia due to anesthesia at the beginning of angiography. A total of 138 (63% male) patients with WS were evaluated from the articles published in Türkiye. Of 138 patients, 64.4% had SVAS, 52.1% had PPS, and 39.8% had additional cardiac anomaly. The median follow-up period ranged from 17 months to 18 years, and six (4.3%) patients died in the early postoperative period. CONCLUSION: Cardiovascular system involvement is extremely common and is the leading cause of morbidity and mortality in patients with WS, often requiring surgical intervention. As seen in our study including 35 patients with WS and in publications from Türkiye, SVAS in patients with WS generally requires surgery, especially in the first year of life. PPS, on the other hand, requires surgery less frequently than SVAS, and pulmonary stenosis appears to decrease over time.

Successful Anesthesia Management of Pediatric Living Donor Liver Transplant With Mild Bilateral Pulmonary Artery Stenosis Due to Alagille Syndrome: A Case Report.

Alagille syndrome is an autosomal-dominantinherited disease characterized by intrahepatic bile duct involvement, congenital heart disease, eye anomalies, skeletal and central nervous system involvement, kidney anomalies, and facial appearance. Liver transplant is the only treatment option for patients with end-stage liver disease and Alagille syndrome. Bilateral peripheral pulmonary artery stenosis is a contraindication for liver transplant due to high mortality, and the decision for liver transplant in patients with bilateral peripheral pulmonary artery stenosis is extremely challenging for anesthesiologists andtransplant surgeons.Wepresent a 2-year-oldfemale patient with successful anesthetic management of a pediatric living donor liver transplant with mild bilateral pulmonary artery stenosis, mild aortic stenosis, and mitral regurgitation due to Alagille syndrome. Anesthesiologists should know the underlying pathophysiological condition and perform a comprehensive preoperative evaluation to determine the correct anesthesia plan in patients with Alagille syndrome who will undergo liver transplants to treat multiple system disorders. Successful perioperative management of Alagille syndrome requires effective communication and collaboration between specialists through a multidisciplinary team approach.

Long-term outcomes in patients who underwent surgical correction for atrioventricular septal defect.

OBJECTIVE: The follow-up results of patients operated for atrioventricular septal defect (AVSD) during 1996-2016 at Baskent University are presented. METHODS: Data obtained from hospital records consists of preoperative echocardiographic and angiographic details, age and weight at surgery, operative details, Down syndrome presence, postoperative care details, early postoperative and latest echocardiographic findings and hospitalization for reintervention. RESULTS: A total of 496 patient-files were reviewed including 314 patients (63.4%) with complete and 181 (36.6%) with partial AVSD (48.4% of all patients had Down syndrome). Atrioventricular (AV) valve morphology was Rastelli type A in 92.2%, B in 6.5%, and C in 1.3% of patients. The operative technique used was single-patch in 21.6% (108), double-patch in 25.8% (128), and modified single-patch (Wilcox) in 52.5% (260) of patients. The follow-up time was 37.79±46.70 (range, 0-198) months. A total of 64 patients (12.9%) had arrhythmias while in the intensive care unit; pacemaker was implanted in 12 patients. A total of 78 patients (15.7%) were treated for pulmonary hypertensive crisis. The early morbidity and mortality in the postoperative first month were calculated as 38% and 10%, and the late morbidity and mortality (>1 month) were calculated as 13.1% and 1.9%, respectively. The rate of reoperation in our cohort was 8.9%. CONCLUSION: Although the early morbidity and mortality are low in AVSD operations, the rate of reoperations for left AV valve insufficiency are still high. Although Down syndrome is not a risk factor for early mortality, the co-morbid factors, such as longer postoperative mechanical ventilator or inotropic support, lead to higher risk for morbidity. The frequency of pulmonary hypertension and consequent complications are also high.

[Case report and the surgical treatment of two cases with pulmonary atresia in which pulmonary arteries is circulated by coronary arteries]. / Pulmoner arter kanlanmasi koroner arterler yoluyla olan pulmoner atrezili iki olgu sunumu ve cerrahi tedavisi.

Pulmonary atresia (PA) and ventricular septal defect (VSD) can occur in a variety of ways, from simple valve atresia to a condition in which circulation to the pulmonary bed occurs through collateral arteries separated from the aorta and there are no real pulmonary arteries, or they are present but hypoplastic. The size of the pulmonary arteries and concomitant complex cardiac lesions are important in making decisions about treatment and correctional alternatives. While complete correction surgeries in the style of a correction of tetralogy of Fallot are performed in simpler cases, many very invasive procedures are also performed and the resulting quality of life is very variable. The size of the pulmonary artery and its branches and the presence of accompanying collateral vessels are determining factors in the management of the disease. In this report, 2 cases of VSD and PA, in which the circulation of the pulmonary arteries was through the coronary arteries, diagnosed as a result of echocardiography performed following murmurs heard during examination, are described. The first patient was 40 days old and the second was 2 days old. In the second case, diagnosis was confirmed by catheter angiography, and in the first case, the final diagnosis was made during surgery. The aim of this report is to emphasize the importance of pulmonary artery size, the presence of pulmonary confluence, the origin of circulation, and concomitant collateral arteries when considering treatment methods.

Abdominal aorta intima media thickness in obese children.

The aim of this study is to investigate whether abdominal aorta intima media thickness (aIMT), increases in obese children and to determine risk factors. Ninety-six children aged 5-16 (51 obese and 45 non-obese) were enrolled in this prospective and cross-sectional study. Age, gender, and relative body mass index (BMI) were recorded. Their serum lipids, thyrotropin, fasting glucose and insulin levels were analyzed. The homeostasis model assessment (HOMA-IR) score was calculated for insulin resistance. Anthropometric and biochemical data were assessed along with aIMT. Findings in obese children were compared with those of non-obese control subjects. The aIMT was significantly greater in obese children. Similar trends were observed in both prepubertal children and adolescents. In obese children, the mean aIMT (mm) was 0.021 (years of age) +0.519. In non-obese children, the mean aIMT (mm) was 0.017 (years of age) +0.381. Our data suggests a relationship between glucose metabolism and aIMT in obese children. BMI was an independent risk factor for increasing aIMT. In conclusion, when compared with non-obese controls, obese children demonstrated significantly increased aIMT. Higher BMI, insulin, HOMA-IR and increased systolic blood pressure seem to be the main factors contributing to increased aIMT and risk for developing vascular disease. Childhood obesity contributes to the development of an increased aIMT.

Does the z-score value of the abdominal aorta predict recoarctation in an infant?

OBJECTIVE: We evaluated left ventricular dimensions and aortic arch z-scores in infants who underwent balloon angioplasty (BAP) or surgery for coarctation of aorta (CoA). We searched for risk factors predicting recoarctation. PATIENTS: Between 2007-2011, 27 male and 17 female infants (mean age 2.93 ± 4.78 months, range 2 days-24 months) with CoA were evaluated. Left ventricular dimensions, systolic functions, mitral and aortic annuli, transverse aortic arch, isthmus, coarctation site, and diaphragmatic aorta measurements were done and z-scores were determined before intervention. RESULTS: Six patients underwent primary operation, 38 patients had BAP (86.4%). Associated cardiac pathologies in operated patients were double outlet right ventricle (n = 2), atrioventricular septal defect (n = 1), Ebstein's anomaly (n = 1), arch hypoplasia (n = 2). Twelve patients (27.2%) had simple coarctation. Ventricular septal defect was the most frequent associated cardiac pathology (n = 20, 45.4%). The patients were followed for 10.22 ± 8.21 months. Among 33 primary successful BAP's, 14 had recoarctation (42%). Eleven patients were primarily operated (including 5 with unsuccessful BAP), two had recoarctation (18%). Abdominal and transverse aorta values and z-scores were significantly lower in the recoarctation group (7.15 ± 2.12 mm and 6.07 ± 1.86 mm respectively in the "no-recoarctation group"; vs. 5.53 ± 0.75 mm and 4.94 ± 1.53 mm in the "recoarctation group" P <.05). Abdominal aorta z-score of 0.42 was 88.9% sensitive and 53.8% specific to predict recoarctation (area under ROC curve: 0.618-0.902, P <.05). CONCLUSION: Although BAP for native coarctation is still a controversial treatment option due to frequent restenosis rates, abdominal aorta z-score of 0.42 could correctly eliminate recoarctation in 89% of these cases. This cutoff value might help us choose patients for primary BAP and decrease the recoarctation rate after BAP.

Crisscross heart with tricuspid atresia diagnosed in utero.

Crisscross heart is a rare congenital cardiac anomaly in which systemic and pulmonary venous streams cross without mixing at atrioventricular level. We report a case of crisscross heart with tricuspid atresia, double outlet right ventricle, and pulmonary stenosis, which was diagnosed prenatally.

Absence of the right pulmonary artery associated with a partial anomalous pulmonary venous connection.

Unilateral absence of a pulmonary artery is a rare anomaly. Patients may present with hemoptysis, recurrent respiratory infections, pulmonary hypertension, or congestive heart failure. This report describes the case of a missing right pulmonary artery associated with anomalous left pulmonary venous connection not previously described in the medical literature.

[Follow-up of our patients with transposition of the great arteries and arterial switch operation; comparison of simple and complex transposition cases]. / Arteriyel "switch" ameliyati yapilan büyük arter transpozisyonlu hastalarimizin izlemi; basit ve kompleks transpozisyon olgularinin karsilastirilmasi

OBJECTIVE: 1. Follow-up data of patients with simple transposition of great arteries (TGA) and TGA with ventricular septal defect (VSD), who had arterial switch operation (ASO) are compared. 2. Factors affecting mortality and morbidity after ASO are described. METHODS: Seventy-six patients, who had an ASO between April 2007 and August 2010 were studied retrospectively. The patients with intact ventricular septum (IVS) (n=36) were in Group 1, and those with VSD (n=40) in Group 2. The pre and postoperative clinical and echocardiographic variables and intensive care unit (ICU) outcomes were compared among groups using Mann-Whitney U, Pearson correlation and logistic regression tests. RESULTS: The mean age at operation was 44.1 days, weight was 3.6±0.98 kg. Patients were followed for 15.5±11.21 months. The aortic cross-clamp (AoCC) and cardiopulmonary bypass (CPB) times were higher in patients with VSD (p=0.001, p=0.004). Patients in Group 1 had longer inotropic agent infusion (p=0.001). Length of stay in ICU was similar in two groups (p>0.05). There was no correlation between the length of stay in ICU and age, weight, CPB time, AoCC time. Aortic regurgitation was more frequent in Group 2 (p=0.02). During follow-up, 12 patients died (15.7%), and 8 patients had a revision operation (10.5%) (diaphragmatic plication in 4, pulmonary artery reconstruction in 1, recoarctation operation in 3 patients). Mortality was similar in groups (p>0.05). CONCLUSION: Arterial switch operation provides anatomical correction in TGA. Appropriate timing and good perioperative planning facilitates low morbidity and mortality in patients with VSD as in patients with simple TGA.

The outcome of the vertical vein left intact during the surgery for total anomalous venous connection and its effects on ventricular functions.

OBJECTIVE: We examined the fate of intact vertical vein during long-term follow-up and its effects on ventricular functions. METHODS: Eighty one patients with all types of total anomalous pulmonary venous connection (TAPVC) were operated. Thirty-one patients with supracardiac type TAPVC were examined in our retrospective cohort study. Groups were evaluated with respect to left ventricle area, volume, end-systolic, end diastolic diameter, early and late term mortality and properties of pulmonary hypertensive crisis. Vertical vein was left open in 14 patients and it was ligated in 17 patients. Wilcoxon rank and Mann- Whitney U tests were used to compare variables between groups. RESULTS: After mean follow up of 48±36 months, vertical vein closed spontaneously in 3 patients. Two of them were closed surgically due to elevated shunt flow and there was spontaneous closure in one patient who had the highest pulmonary artery pressure amongst others postoperatively. Preoperative left ventricular area, volume, end-systolic diameter and end-diastolic diameter values of the patients increased from 3.5± 0.9 mm(2)-2.9±0.9 mm(3)-14±5 mm-8±4.5 mm to 8±3.3 mm(2)-16±8.7 mm(3)-27±6.7 mm-17±4.8 mm at the postoperative period in Group 1, and from 6.8±3.5 mm(2)-8.4±8.7 mm(3)-15±6.4 mm-9±5.3 mm to 7.4±5.2 mm(2)-16±1.7 mm(3)-21.7±5 mm-13.5±4.1 mm in Group 2, respectively (p=0.02, p=0.039, p=0.054, and p=0.07, respectively). CONCLUSION: Vertical vein remains intact in most of the patients and may be closed spontaneously in patients with elevated pulmonary resistance. Intact vertical vein both decompresses the left ventricular cavity in patients with decreased left ventricular compliance until the ventricular muscle adapts to new workload and improves ventricular functions on long term follow up. Therefore, we conclude that vertical vein should be left open in selected patients.

The effect of corrective surgery on serum IGF-1, IGFBP-3 levels and growth in children with congenital heart disease.

The aim of this study is to evaluate growth and insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3) levels in infants with congenital heart disease (CHD) pre- and postoperatively over a period of a year. Anthropometric values and serum levels of IGF-1 and IGFBP-3 of 40 infants with CHD (20 cyanotic and 20 acyanotic) were compared with 32 healthy controls. Acyanotic infants and infants with pulmonary hypertension (PH) presented significantly more growth failure. Preoperatively, serum IGF-1 and IGFBP-3 levels were lower in the acyanotic group than the cyanotic and the control groups (p = 0.22; p < 0.01). The upward trend in IGF-1 and IGFBP-3 levels in this year-long study demonstrated that the values in the third month and the first year were higher than the preoperative values (p < 0.05). The parallel increase of weight gain and IGF-1, IGFBP-3 levels were the best evidence that these parameters are good nutritional indicators. Timing the corrective surgery before chronic malnutrition or PH develops is an important issue to maintain a normal growth for children with CHD.

Frequency, origins and courses of anomalous coronary arteries in 607 Turkish children with tetralogy of Fallot.

BACKGROUND: The aim of this study was to investigate the incidence, origins and courses of coronary artery anomalies using a combination of angiographic and surgical methods in Turkish children with tetralogy of Fallot (ToF). METHODS: Seventy-seven patients in whom coronary artery anomalies had been identified by angiography and/or at operation out of 549 ToF and 58 Fallot-type double outlet right ventricle (total 607) patients, were enrolled in the study. RESULTS: Coronary artery anomalies were identified in 12.7% of the patients. The incidence was 12.2% (67/549) in patients with aortic overriding 50%, and 17.2% (10/58) with aortic overriding 〉 50% (p 〉 0.05). The incidence of anomalous coronary arteries crossing the right ventricular outflow tract (RVOT) was 7.91%. The commonest anomaly was the left anterior descending artery (LAD) or accessory LAD arising from the right coronary artery (RCA; n = 25). Other frequent anomalies were single coronary ostium (n = 21) and enlarged conal branch of RCA (n = 18). In 62.3% (48/77) of the patients with a coronary anomaly, the anomalous vessels were crossing the RVOT. The ratio of crossing the RVOT was 92.0% for LAD arising from the RCA, 66.7% for conal branch, and 42.9% for single coronary ostium. CONCLUSIONS: Two thirds of the anomalous coronary arteries were crossing the RVOT, and had surgical importance. The most frequent coronary artery anomaly that crossed the RVOT was the LAD or the accessory LAD arising from the RCA. Also, an enlarged conus artery should be considered as an anomaly because of its surgical importance, given its high rate of crossing the RVOT.

[The incidence of thrombocytopenia after cardiopulmonary bypass in children with Down syndrome]. / Down sendromlu çocuklarda kardiyopulmoner baypas sonrasi trombositopeni sikligi

OBJECTIVES: We investigated the incidence of thrombocytopenia in pediatric patients with Down syndrome following cardiac surgery for congenital heart disease. STUDY DESIGN: We retrospectively evaluated 162 patients (81 girls, 81 boys; mean age 26.1 ± 39.5 months) who underwent total surgical correction for congenital heart disease. The patients were divided into two groups with respect to the presence (n=118) or absence (n=44, controls) of Down syndrome. Platelet counts were performed preoperatively and on days 1 to 7 after surgery and thrombocytopenia was defined as a platelet count of less than 100,000/mm3. RESULTS: The incidence of thrombocytopenia was significantly higher in patients with Down syndrome compared to controls (61.9% vs. 34.1%, p=0.002). Severe thrombocytopenia was observed in 22% and 4.6% of cases with and without Down syndrome, respectively. Postoperative platelet counts showed sharp decreases in both groups, bottoming out on day 3 and with more significant decreases in patients with Down syndrome; they started to rise on day 4, but remained lower than baseline levels on day 7. The only significant differences between the two groups in preoperative and postoperative variables were higher incidences of reintubation (26.3% vs. 9.1%, p=0.003) and complications during intensive care (50.9% vs. 27.3%, p=0.007) in cases with Down syndrome. Comparison of patients with and without thrombocytopenia independent of Down syndrome yielded significant differences for thrombocytopenic patients with respect to age, operation age, the presence of cyanosis, type of surgery and operation time, aortic clamp and bypass times, lengths of intensive care and hospital stay, intubation and chest tube drainage times, and the incidence of postoperative complications (p<0.05). CONCLUSION: Despite higher incidence of thrombocytopenia, the presence of Down syndrome was not associated with significant differences other than increased reintubation requirement and higher complication rate during intensive care.

Extension of coronary artery with double flap technique in a complicated arterial switch operation.

The increased distance between the coronary ostium and the reimplantation site poses technical challenges in older patients with transposition of the great arteries (TGA) and complex coronary artery anomalies. In this report, we describe a technique for coronary artery reimplantation using a pedicle flap on the pulmonary artery (PA) to create a tunnel resulting in an extension of the coronary button.

Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations.

Reports on Noonan syndrome (NS) have documented multiple types of coagulation defects and bleeding diathesis, and a wide range of clinical presentations. Early studies suggested that a large proportion of NS patients have coagulation defects, whereas more recent reports indicate low rates of coagulopathy. The aim of this study was to evaluate phenotypic characteristics, PTPN11 gene mutations, and hematological and coagulation parameters in 30 clinically diagnosed cases of NS. One of the NS patients had a history of easy bruising; however, his hematological and coagulation tests were normal. None of the other patients had clinical coagulation problems. In the NS group, values for platelet count, activity of factors XI, XII, and protein C were significantly lower than the corresponding means for the control group. However, the results of coagulation tests in the NS group were diagnostically inconclusive and only one patient had clinical signs of coagulopathy. Interestingly, two NS patients had low protein C activity. One of these children had an A1517C mutation and transient myelodysplasia. The other patient had a C1528G mutation in exon 13 that has not been reported previously. Neither of these individuals experienced a thrombotic event or any complication during approximately 3 years of follow-up. For all patients clinically diagnosed with NS, a thorough history of coagulation issues should be taken and first-line coagulation testing should be done to evaluate for bleeding diathesis. However, if these assessments reveal nothing abnormal, complications related to coagulation are unlikely and extensive testing is unnecessary.

Arterial switch and modified Konno procedure with detachment of the aortic root for transposition of the great arteries and left ventricular outflow tract obstruction.

The arterial switch operation for the transposition of the great arteries accompanied by a ventricular septal defect and posterior malalignment of the outlet septum is a surgical challenge. We describe a new surgical technique in 2 patients having this pathology. The surgical technique consists of the arterial switch operation and a modified Konno procedure through partial detachment of the semilunar valve of the right ventricle as in the Ross procedure.