Comparison of serum N-terminal pro-brain natriuretic peptide levels, conventional echocardiography, exercise parameters, and dyssynchrony measurements in Fontan patients.

INTRODUCTION: Little data are available concerning the methods used in the long-term follow-up of Fontan patients. We analyzed the association between serum N-terminal pro-brain natriuretic peptide levels, conventional echocardiography findings, exercise parameters, and dyssynchrony measurements in patients who underwent Fontan surgery. METHODS: This study included 28 patients who underwent Fontan surgery (mean age 12.8 ± 4.36 years) and 27 healthy controls (mean age 12.5 ± 3.76 years). Echocardiography examinations and exercise tests were performed in both groups. The systemic ventricle was examined via echocardiography, dyssynchrony measurement was performed, the systemic ventricular myocardial performance index was calculated, and serum N-terminal pro-brain natriuretic peptide levels were measured for all subjects. RESULTS: Lower cardiac output, stroke volume, maximal work, chronotropic index, maximal oxygen uptake, and higher N-terminal pro-brain natriuretic peptide levels were observed in the Fontan group than in the control group (p < 0.05). A negative correlation was found between physical exercise parameters and N-terminal pro-brain natriuretic peptide levels and dyssynchrony measurements. CONCLUSION: Measurements of exercise capacity, serum N-terminal pro-brain natriuretic peptide levels, and dyssynchrony measurement were more valuable than conventional methods for assessing patients' clinical and functional status. Dyssynchrony measurements provided better information about ventricular status than did conventional echocardiography studies. While patients' systolic function determined by conventional echocardiography was normal, dyssynchrony measurements showed the opposite result. The negative relationship between serum N-terminal pro-brain natriuretic peptide levels, dyssynchrony measurements, and exercise capacity suggests that these parameters should be investigated further in Fontan patients.

Early and late outcomes of surgical repair of double-chambered right ventricle: a single-centre experience.

OBJECTIVE: Double-chambered right ventricle is characterised by division of the outlet portion of the right ventricle by hypertrophy of the septoparietal trabeculations into two parts. We aim to report our experiences regarding the presenting symptoms of double-chambered right ventricle, long-term prognosis, including the recurrence rate and incidence of arrhythmias after surgery. METHODS: We retrospectively investigated 89 consecutive patients who were diagnosed to have double-chambered right ventricle and underwent a surgical intervention from 1995 to 2016. The data obtained by echocardiography, cardiac catheterisation, and surgical findings as well as post-operative follow-up, surgical approaches, post-operative morbidity, mortality, and cardiac events were evaluated. RESULTS: Median age at the time of diagnosis was 2 months and mean age at the time of operation was 5.3 years. Concomitant cardiac anomalies were as follows: perimembranous ventricular septal defect (78 patients), atrial septal defect (9 patients), discrete subaortic membrane (32 patients), right aortic arch (3 patients), aortic valve prolapse and/or mild aortic regurgitation (14 patients), and left superior caval vein (2 patients). The mean follow-up period was 4.86 ± 4.6 years. In these patients, mean systolic pressure gradient in the right ventricle by echocardiography before, immediately, and long-term after surgical intervention was 66.3, 11.8, and 10.4 mmHg, respectively. There were no deaths during the long-term follow-up period. Surgical reinterventions were performed for residual ventricular septal defect (2), residual pulmonary stenosis (1), and severe tricuspid insufficiency (1). CONCLUSION: The surgical outcomes and prognosis of double-chambered right ventricle are favourable, recurrence and fatal arrhythmias are unlikely in long-term follow-up.

A rare cause of cyanosis in newborns: arteriovenous fistula between the right pulmonary artery and the left atrium and its treatment.

The formation of a fistula between the right pulmonary artery and the left atrium via a sac is a very rare cyanotic congenital cardiopulmonary defect. A fistula between the pulmonary artery and left atrium may cause cardiac failure in utero. It can safely be treated surgically and in selected cases closure can be performed with transcatheter insertion of a device. In this article, we present a case with a fistula between the right pulmonary artery and the left atrium that was considered unsuitable for transcatheter closure and was safely treated surgically.

Multiple giant aneurysms and stenoses of the coronary and systemic arteries in an infant with kawasaki disease at the early stage of convalescent period.

Myocardial infarction and systemic arterial aneurysms are rarely seen during the course of the Kawasaki disease (KD). Herein, we report the case of a 4-month-old Turkish infant who was diagnosed with KD on the 17th day of the illness. On admission, echocardiogram showed multiple coronary arterial aneurysms (CAAs) and massive pericardial effusion. He was given intravenous immunoglobulin, aspirin and anticoagulant drugs. However, the aneurysms progressed to "super giant" CAAs, multiple huge coronary arterial thromboses developed recurrently and caused myocardial ischemia. Furthermore, the conventional angiography revealed multiple giant aneurysms and stenoses in the subclavian, celiac, and iliac arteries, besides CAAs.

Oral budesonide as a therapy for protein-losing enteropathy in children after the Fontan operation.

BACKGROUND AND AIM: Protein-losing enteropathy is a rare complication of the Fontan palliation surgery. Budesonide is an effective treatment option for protein-losing enteropathy. We reviewed our retrospective experience in four patients who were treated with oral budesonide. METHODS: Four patients with refractory protein-losing enteropathy after the Fontan operation were started on oral budesonide 9 mg/daily. After achieving normal serum albumin the dose was tapered to 3 mg. Response to oral budesonide, side effects, and serum albumin levels before the treatment and at first, fourth, and ninth months of the budesonide course were recorded. Efficacy was measured based on serum albumin levels and clinical symptoms. RESULTS: Mean pretherapy albumin was 2.25 g/dL (range 1.7 to 2.5 g/dL) and nine months after therapy it was 4.15 g/dL (range 3.9 to 4.4 g/dL) (p < 0.05). All patients had at least a transient improvement in serum albumin levels and clinical findings. Systemic side effects included cushingoid features and oral moniliasis. All patients had improvement in side effects after tapering budesonide to 3 mg. The treatment was terminated in one case as soon as serum albumin level exceeded 3 g/dL. One death occurred from respiratory arrest six months after budesonide discontinuation. CONCLUSION: Budesonide can be used to treat protein-losing enteropathy in selected patients with cardiac diseases.

Transposition of the great arteries and cor triatriatum: a rare combination.

In this case report, we present a 5-month-old girl diagnosed with a unique combination of transposition of the great arteries and cor triatriatum sinistra. A 1-day-old female patient presented to our hospital with cyanosis since the early neonatal period. We confirmed transposition of the great arteries by echocardiography. The patient underwent arterial switch operation on day 8 and was discharged on day 35. After 5 months of the operation, the patient had a lower respiratory tract infection and was unable to gain weight. Echocardiography revealed mild neopulmonary regurgitation, minimal neoaortic regurgitation, and pulmonary arterial hypertension. In addition, a fibrous membrane was also seen dividing the left atrium. The patient was diagnosed with cor triatriatum and underwent successful resection of the membrane.

Use of oral budesonide in the management of protein-losing enteropathy due to restrictive cardiomyopathy.

A 7-year-old male patient who had abdominal swelling and eyelid oedema was diagnosed with restrictive cardiomyopathy. His serum albumin level was 2.3 g/dl. Protein-losing enteropathy due to restrictive cardiomyopathy was diagnosed and oral budesonide was started. His serum albumin level began to rise and ascites and peripheric oedema disappeared. The patient underwent a successful cardiac transplantation and budesonide was stopped. After the heart transplantation, the albumin level decreased to 2.3 g/dl, and therefore it was restarted. When the serum albumin level increased, the budesonide dose was tapered and stopped in 1 month. Budesonide may be an effective drug in patients with protein-losing enteropathy due to heart failure.

The Roberts syndrome: a case report of an infant with valvular aortic stenosis and mutation in ESCO2.

Roberts syndrome, which is inherited as an autosomal recessive group of disorders, is a rare syndrome characterized with symmetrical extremity defects, craniofacial abnormalities, and prenatal and postnatal growth retardation. Here, we present a case of Roberts Syndrome brought to the clinic with diarrhoea and multiple abnormalities, that had tetra phocomelia, growth and developmental retardation, abnormality of complete cleft lip-palate accompanied with Aortic stenosis and PDA, and in which cytogenetic analysis identified premature centromere separation. Mutation analysis of ESCO2 revealed a splice site mutation [c.1131+1G>A] in intron 6 in homozygous status in the patient and heterozygous status in the parents. Our case is the first Robert- Syndrome with valvular aortic stenosis in the literature, to the best of our knowledge.

Embolization of pulmonary sequestration with Onyx: an unusual application.

We report a baby with intralobar pulmonary sequestration who was successfully treated with a new embolization agent, Onyx. A 1.5-month-old female infant was admitted to our hospital with sweating and fatigue. Telecardiography showed cardiomegaly, dextrocardia, and increased pulmonary vascular markings. In thoracic computerized tomography, pulmonary sequestration, right pulmonary hypoplasia, and large collateral arteries were seen. The collateral arteries were originating from the celiac trunk and aorta. Echocardiography revealed enlargement of the left atrium and ventricle and left ventricle systolic dysfunction. Angiography revealed a large feeding artery and three branches originating from the aorta and another feeding artery originating from the celiac trunk. We performed embolization of the feeding arteries and their branches, with coils and Onyx. The procedure was performed without complications, and all feeding arteries were completely occluded. The infant started to gain weight. One year later, the infant's body weight had increased and she had no respiratory problems or signs of congestive heart failure. In this case report, we suggest that embolization with Onyx is a reliable alternative method to surgery for infants with pulmonary sequestration. With future studies, pulmonary sequestration embolization with Onyx may become an acceptable and easy treatment option in pediatric patients.

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.

Experience and Results of Liver Transplantation in Patients With Alagille Syndrome at Our Center.

OBJECTIVES: Alagille syndrome is an autosomal recessive disorder with multisystemic involvement. Patients with Alagille syndrome have many accompanying anomalies such as atypical facial appearance, posterior embryotoxon, butterfly vertebra, cardiac anomalies, and biliary problems. Liver and heart complications can determine the mortality and morbidity of patients with Alagille syndrome. The scarcity of intrahepatic bile ducts leads to cholestatic liver damage. In the heart, although the disease most commonly causes peripheral pulmonary stenosis, patients can present with various structural heart diseases. These cardiac anomalies make intraoperative and postoperative management difficult in patients who need liver transplant. Here, we present 10 cases of liver transplant due to Alagille syndrome. MATERIALS AND METHODS: From 1988 to the present, our center performed 724 liver transplants, with 366 being pediatric cases; among these, 10 were due to Alagille syndrome. We retrospectively examined patient morphological findings, cardiac pathology, and perioperative complications. RESULTS: Average weight and age of patients were 11 kg and 4.9 years, respectively. Eight patients had atypical facial appearance, 5 had posterior embryotoxon, and 6 had butterfly vertebra. Portoenterostomy (Kasai procedure) was performed in 3 patients because of suspicion of early biliary atresia. Cardiac pathology was present in 8 patients, with peripheral pulmonary stenosis being the most common (present in 8 patients). One patient had cardiac catheterization, with right ventricular and pulmonary artery pressures measured at 110 and 37 mm Hg, respectively. Two patients required preoperative pulmonary angioplasty. Two patients had double superior vena cava. No complications occurred in any patient during the anhepatic phase with appropriate volume replacement. No patients had early mortality. CONCLUSIONS: Cardiac anomalies should be identified in patients with Alagille syndrome to minimize complications before liver transplant. If necessary, cardiac catheterization should be performed for pulmonary stenosis. Peripheral pulmonary stenosis does not constitute an absolute contraindication to liver transplant.

Cardiac Evaluation in Children With Chronic Renal Failure and Effect of Kidney Transplant.

OBJECTIVES: Cardiovascular diseases are an important cause of mortality and morbidity in children with chronic renal failure. Cardiac evaluation and followup are crucial for these patients before and after renal transplant. Echocardiography is a noninvasive imaging modality that allows for the assessment of cardiac structure and function. MATERIALS AND METHODS: We retrospectively investigated pretransplant and posttransplant echocardiography findings for 55 pediatric patients who had underwent kidney transplant. We recorded patient characteristics before and after transplant, including age, sex, follow-up period, etiology of renal failure, left ventricular systolic and diastolic diameters and the associated z scores, left ventricular mass indexes and z scores, ejection fraction and fractional shortening, aortic valve and atrioventricular valve insufficiencies, presence of pulmonary hypertension, and pericardial effusion (if any) in echocardiography. All participants underwent echocardiography at baseline and after 6 months following the transplant procedure. RESULTS: Posttransplant echocardiography evaluations showed that the z scores of left ventricular systolic and diastolic diameters decreased significantly, mitral regurgitation decreased, and left ventricular systolic functions and left ventricular mass index increased. CONCLUSIONS: Our study revealed that kidney transplant has a beneficial effect on the cardiovascular status of patients with end-stage renal disease, as shown by improvements in both structural and functional echocardiographic features. Cardiac functions must be monitored regularly before and after transplant. Transplantation is the optimal treatment option for preservation and improvement of cardiovascular functions.

Right pulmonary venous atresia: a case report and review of literature.

Isolated pulmonary vein atresia without associated congenital malformation is a very rare condition in adults. It is associated with significant mortality and morbidity. Recurrent pulmonary infections, dyspnea on exertion and hemoptysis may be the presenting complaints. Owing to the limited number of patients with this condition there may be some difficulties in it's diagnosis and therapy. We report an adult case with this rare congenital malformation and discuss it's diagnosis and management options.

Neurologic Complications After Pediatric Heart Transplant: A Single-Center Experience.

OBJECTIVES: Neurologic complications that can lead to serious mortality and morbidity in pediatric heart transplant recipients have been reported to range from 23.6% to 45%. In this study, the frequency, time, cause, and characteristics of neurologic complications in pediatric heart transplant recipients were evaluated. MATERIALS AND METHODS: We retrospectively reviewed data of 37 pediatric heart transplant recipients aged <18 years who were seen at our hospital between 2007 and 2017. Medical records were reviewed to identify neurologic complications. Clinical features were compared between pediatric heart transplant patients with and without neurologic complications. RESULTS: The rate of posttransplant neurologic complications in pediatric heart transplant was 27% (10/37). Median age of patients with neurologic complications was 12 years (range, 11-18 years). Median time for neurologic complications was 3 days (range, 2-46 days). Primary diagnoses of these 10 recipients were dilated cardiomyopathy (n = 7) and restrictive cardiomyopathy (n = 3). There were no significant differences between recipients with and without neurologic complications (P > .05).The etiologies of neurologic complications were posterior reversible encephalopathy syndrome in 3 patients (8.1%), stroke in 2 patients (5.4%), peripheral neuropathy in 2 patients (5.4%), hypertensive encephalopathy in 1 patient (2.7%), and drug encephalopathy in 1 patient (2.7%). CONCLUSIONS: Neurologic complications may lead to serious mortality and morbidity in pediatric heart transplant patients. Seizures, posterior reversible encephalopathy syndrome, stroke, peripheral neuropathy, transient ischemic attack, and cerebral infections are the most common neurologic complications, which are seen in the perioperative period in particular. Careful follow-up of pediatric heart transplant patients, with detection and early treatment of neurologic findings, will contribute to lower rates of sequelae. To our knowledge, this is the largest study to show a detailed experience of neurologic complications in pediatric heart transplant patients from a single center in Turkey.

Evaluation of acute kidney injury after surgery for congenital heart disease in neonates: a tertiary hospital experience.

PURPOSE OF THE ARTICLE: Acute kidney injury (AKI) after cardiac surgery in children with congenital heart disease (CHD) is a serious complication closely associated with high morbidity and mortality. Despite numerous studies on AKI in children, most studies have excluded neonates. We sought to characterize AKI associated with cardiac surgery in neonates, determine its incidence, perioperative and postoperative risk factors, and short-term results. MATERIALS AND METHODS: This retrospective study included 177 neonates who were operated on for CHD in our hospital between January 2015 and December 2019. Data of the patients were analyzed according to nKDIGO (neonatal Kidney Disease Improving Global Outcomes) and nRIFLE (neonatal Risk, Injury, Failure, Loss of function, End-stage kidney disease) criteria for evaluating AKI retrospectively. Data of groups with and without AKI were analyzed. RESULTS: The average age of 177 neonates were 8.2 ± 6.1 (1-28) days. Twenty-two (12.4%) neonates had CS-AKI defined according to nKDIGO criteria. Four (2.3%) neonates reached nKDIGO stage I, 1 (0.6%) reached stage II, 17 (9.6%) reached stage III. Thirty-eight (21.5%) neonates had CS-AKI defined according to nRIFLE criteria. Twenty-four (13.6%) neonates reached nRIFLE stage risk(R), 6 (3.4%) reached stage injury(I), 8 (4.5%) reached stage failure (F). The incidence of cardiac surgery-associated acute kidney injury (CS-AKI) in neonates was 12.5% and 21.5% for nKDIGO and nRIFLE, respectively. The percentage difference between nKDIGO and nRIFLE for AKI assessment was due to the criteria for nRIFLE stage risk(R) urine output < 1.5 mL/kg/h for 24 h. In both classifications, the duration of cardiopulmonary bypass, operation, inotropic treatment, and mechanical ventilation, length of intensive care unit (ICU), and hospital stay were significantly higher in the AKI group than those without AKI group (p˂.05). The mortality rate in the groups with AKI was found to be significantly higher (p˂.05) than in the groups without AKI. In Kappa analysis, when two classifications were compared according to AKI stages, a significant agreement was found between nKDIGO and nRIFLE classifications (p˂.05) (Kappa: 0.299). CONCLUSION: AKI and mortality rates were similar between groups according to the nKDIGO and nRIFLE criteria. For early prediction of AKI and adverse outcomes, diagnostic reference intervals might be specified in more detail in neonates undergoing cardiac surgery for CHD.

A large intracardiac fungus ball in a premature infant.

We present a premature infant with large intracardiac mass. She had a history of sepsis and umbilical venous catheterization in the neonatal period. Twenty-seven days after withdrawal of the catheter, a precordial murmur was noted. A large right atrial highly mobile mass suspected to be thrombus was detected by echocardiography. C-reactive protein was elevated. Three blood cultures were negative. Anticoagulation treatment was started. After one week, no resolution of the thrombus was observed. The mass was surgically resected and diagnosis of thrombus infected by fungi was made on histopathological examination. Early screening of cardiac chambers by echocardiography is recommended in all preterms with intravascular catheterization.

[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.

Results of balloon and surgical valvuloplasty in congenital aortic valve stenosis: A 19-year, single-center, retrospective study.

BACKGROUND: This study aims to compare the success, complications, and long-term outcomes of aortic balloon valvuloplasty and surgical aortic valvuloplasty in pediatric patients with congenital aortic valve stenosis. METHODS: Between March 2000 and October 2019, a total of 267 procedures, including 238 balloon valvuloplasties and 29 surgical valvuloplasties, in 198 children (135 males, 63 females; mean age: 57.4±62.6 months; range, 0.03 to 219 months) were retrospectively analyzed. The hospital records, echocardiographic images, catheterization data, angiography images, and operative data were reviewed. RESULTS: Aortic regurgitation was mild in 73 patients before balloon valvuloplasty, and none of the patients had moderate-to-severe aortic regurgitation. Compared to surgical valvuloplasty, the rate of increase in the aortic regurgitation after balloon valvuloplasty was significantly higher (p=0.012). The patients who underwent balloon valvuloplasty did not need reintervention for a mean period of 46±45.6 months, whereas this period was significantly longer in those who underwent surgical valvuloplasty (mean 80.5±53.9 months) (p=0.018). The overall failure rate was 8%. Moderate-to-severe aortic regurgitation was the most important complication developing due to balloon valvuloplasty in the early period (13%). All surgical valvuloplasties were successful. The mean length of hospitalization after balloon valvuloplasty was significantly shorter than surgical valvuloplasty (p=0.026). During follow-up, a total of 168 patients continued their follow-up, and a reinterventional or surgical intervention was not needed in 78 patients (47%). CONCLUSION: Aortic balloon valvuloplasty can be repeated safely and helps to eliminate aortic valve stenosis without needing sternotomy. Surgical valvuloplasty can be successfully performed in patients in whom the expected benefit from aortic balloon valvuloplasty is not achieved.

Infective Endocarditis in Childhood: a Single-Center Experience of 18 Years.

INTRODUCTION: We aimed to present the risk factors, clinical and laboratory findings, treatment management, and risk factors for morbidity and mortality of infective endocarditis (IE) as well as to relate experiences at our center. METHOD: We retrospectively analyzed data of 47 episodes in 45 patients diagnosed with definite/possible IE according to the modified Duke criteria between May 2000 and March 2018. RESULTS: The mean age of all patients at the time of diagnosis was 7.6±4.7 years (range: 2.4 months to 16 years). The most common symptoms and findings were fever (89.3%), leukocytosis (80.8%), splenomegaly (70.2%), and a new heart murmur or changing of pre-existing murmur (68%). Streptococcus viridans (19.1%), Staphylococcus aureus (14.8%), and coagulase-negative Staphylococci (10.6%) were the most commonly isolated agents. IE-related complications developed in 27.6% of the patients and the mortality rate was 14.8%. CONCLUSION: We found that congenital heart disease remains a significant risk factor for IE. The highest risk groups included operated patients who had conduits in the pulmonary position and unoperated patients with a large ventricular septal defect. Surgical intervention was required in most of the patients. Mortality rate was high, especially in patients infected with S. aureus, although the time between the onset of the first symptom and diagnosis was short. Patients with fever and a high risk of IE should be carefully examined for IE, and evaluation in favor of IE until proven otherwise will be more accurate. In high-risk patients with prolonged fever, IE should be considered in the differential diagnosis.

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.