Neonatal Outcomes of Critical Congenital Heart Defects: A Multicenter Epidemiological Study of Turkish Neonatal Society : Neonatal Outcomes of CCHD.

Critical congenital heart disease (CCHD) is one of the leading causes of neonatal and infant mortality. We aimed to elucidate the epidemiology, spectrum, and outcome of neonatal CCHD in Türkiye. This was a multicenter epidemiological study of neonates with CCHD conducted from October 2021 to November 2022 at national tertiary health centers. Data from 488 neonatal CCHD patients from nine centers were entered into the Trials-Network online registry system during the study period. Transposition of great arteria was the most common neonatal CHD, accounting for 19.5% of all cases. Sixty-three (12.9%) patients had extra-cardiac congenital anomalies. A total of 325 patients underwent cardiac surgery. Aortic arch repair (29.5%), arterial switch (25.5%), and modified Blalock-Taussig shunt (13.2%). Overall, in-hospital mortality was 20.1% with postoperative mortality of 19.6%. Multivariate analysis showed that the need of prostaglandin E1 before intervention, higher VIS (> 17.5), the presence of major postoperative complications, and the need for early postoperative extracorporeal membrane oxygenation were the main risk factors for mortality. The mortality rate of CCHD in our country remains high, although it varies by health center. Further research needs to be conducted to determine long-term outcomes for this vulnerable population.

A rare and fatal cause of hypertrophic cardiomyopathy: Danon disease.

Danon disease is a rare and fatal disease caused by a mutation in the lysosome-associated membrane protein 2 gene. Impaired intracellular autophagy causes lysosomal vacuoles to accumulate mainly in myocardial and skeletal muscle cells, leading to hypertrophic cardiomyopathy, skeletal myopathy, and varying degrees of intellectual disability. Two distinct childhood presentations of Danon disease are described in this report.

The Role of External Loop Recorders in Arrhythmia-Related Symptoms in Children: A Single Center Experience.

In this study, we report our experience with the use of external loop recorders (ELRs), in terms of diagnostic efficiency according to symptoms and symptom-rhythm correlation in pediatric patients. We evaluated ELRs applied to 178 patients between April 2017 and November 2020 at our center. The mean age of 172 patients included in the study was 13.6 ± 3.8 years, and 69.8% were female. ELR indications were palpitations in 98 (56.9%) cases, chest pain and palpitations in 43 (25%) cases, presyncope/syncope in 28 (16.2%) cases, and pacemaker/ implantable cardioverter-defibrillator (ICD) problems in 3 (0.2%) cases. ELR recording times were 14.2 ± 9.7 days on average, ranging from 2 to 67 days. While the symptom-rhythm correlation was 29.1% in total, when the indications were evaluated one by one, this correlation was found to be 30.2% in palpitations, 34.7% in chest pain and palpitations, and 10.7% in presyncope/syncope. The total diagnostic efficiency was 68.1%. In the follow-up of ELR cases, a total of 139 (80.8%) patients received clinical follow-up without medication, 15 (8.8%) patients received medical treatment, and 18 (10.4%) patients underwent EPS. The cardiac ELR system is useful in detecting underlying arrhythmias. Demonstrating sinus tachycardia at the time of the symptom may be seen as negative finding, but while experiencing symptoms, it is diagnostically valuable and may help avoid further investigation with costly and invasive diagnostic procedures. For diagnostic efficiency and cost effectiveness, the optimal recording time is 2 weeks, but it should be extended to 4 weeks in cases such as of presyncope/syncope that cannot be explained with a 2-week ELR use.

Congenital arteriovenous fistula between descending aorta and the left innominate vein.

Thoracic aortocaval fistulae are rare entities where a direct shunt between thoracic arteries and systemic veins is seen. They can be traumatic or congenital in origin. Congenital thoracic aortocaval fistulae usually involve descending aorta and azygos, hemiazygos systems. Presenting symptoms range from continuous murmur to signs of congestive heart failure. In this case report, imaging findings of a 3-year-old girl referred for continuous murmur over the left sternal border are presented. Computed tomography angiography revealed multiple tortuous vessels along the descending aorta with a course toward the left brachiocephalic vein, and was suspicious for an aorta-venous fistula. Subsequent digital subtraction angiography for treatment planning showed a fistula originating at the level of the left 6th intercostal artery, with direct drainage into the left brachiocephalic vein without involvement of the azygos/hemiazygos system.

Horseshoe lung associated with scimitar syndrome.

Horseshoe lung is a rare congenital anomaly and mostly accompanied by scimitar syndrome. Most aspects of this complex anomaly can be demonstrated via multidetector CT (MDCT). We present two baby girls who had horseshoe lung associated with right lung hypoplasia and scimitar vein. The chest roentgenograms showed displacement of the heart and mediastinum to the right with smaller right lung. Echocardiography revealed dextroposition, secundum atrial septal defect and bilateral slight peripheral pulmonary stenosis in the first case and dextroposition, severe pulmonary hypertension, secundum atrial septal defect and tricuspid regurgitation in the other one. On thoracic MDCT, the right lung and pulmonary artery were hypoplastic with cardiomediastinal shift to the right. There was an abnormal right pulmonary vein draining into the inferior vena cava on the lower zone of the right lung (scimitar vein). The posterobasal portions of the both lungs were fused through a midline isthmus behind the heart.

The frequency of asymptomatic urinary system abnormalities in children detected with cineurography imaging during angiocardiography.

IntroductionDiagnostic and interventional catheter angiography of the heart is frequently used in paediatric cardiology. It is also possible to detect urinary system anomalies with cineurography images that may be obtained during angiocardiography. In this study, the aim was to determine the frequency, distribution, and properties of urinary system anomalies accompanying heart diseases, and to find out the effectiveness of cineurographic images in detecting the urinary system anomalies. METHODS: The cineurographic images of 2022 children who had undergone angiocardiography between 1995 and 2015 were retrospectively examined. RESULTS: Urinary system anomalies were detected in 261 of the 2022 cases (12.9%). Of these 261 cases, 148 were males (56.7%), whereas 113 were females (43.3%). Among the heart diseases, the group most accompanied by urinary system anomalies was the non-cyanotic left-to-right shunted heart diseases, which was detected in 120 (39.1%) patients. Pelvicalyceal ectasia was the most common urinary system anomaly encountered and was detected in 89 patients (34.1%). Of the urinary system anomalies cases, 94 detected by cineurography were determined to be clinically severe. When the effectiveness of the cineurography was evaluated using the ultrasonography records of the patients, it was found to have 63.8% accuracy. CONCLUSION: Many of the patients with CHDs concomitantly have urinary system anomalies. It is possible to determine asymptomatic urinary system anomalies using cineurographic imaging during angiocardiography. This may lead to earlier treatments and improved prognosis for the patients, thus making it possible to prevent potential future problems.

Isolated congenital cardiac diverticulum originating from the left ventricular apex: Report of a pediatric case.

Congenital ventricular diverticulum is a rare cardiac anomaly defined as a localized protrusion of the ventricular free wall. Although, it is usually asymptomatic, complications such as embolism, infective endocarditis, and arrhythmias can occur. The diagnosis can be made by echocardiography, cardiac magnetic resonance imaging, or catheter angiography. Surgical resection is the treatment of choice in symptomatic patients, whereas the management of asymptomatic patients often represents a therapeutic dilemma. We report here, a 9-month-old patient with asymptomatic congenital left ventricular (LV) diverticulum associated with epigastric hernia.

Determination of reference values for tricuspid annular plane systolic excursion in healthy Turkish children.

OBJECTIVE: Tricuspid annular plane systolic excursion (TAPSE) is an echocardiographic measurement used for evaluating right ventricular systolic function. While established reference values of TAPSE exist for the adult population, only a limited number of studies have attempted to evaluate reference values for the pediatric population. The aim of the present study was to determine the reference values for TAPSE in healthy children in Turkey. METHODS: A total of 765 healthy children aged between 0 and 18 years, all of whom were referred to our clinic with cardiac murmurs, were evaluated prospectively. Patients with no cardiac pathologies or other disorders were excluded from the study. The measurement of TAPSE was obtained using a 2D-guided M-mode technique with echocardiography, and the relationship between age and surface area with TAPSE was investigated. The statistical analysis was carried out using the SPSS 20.0 software package (SPSS Inc., Chicago, IL, USA, 2012). RESULTS: The mean TAPSE value was found to be 19.56±5.54 mm, and no significant difference was identified between male and female children. TAPSE values showed a positive correlation with increasing age and surface area. The mean TAPSE value was 9.09±1.36 mm in newborns and 25.91±3.60 mm in the 13-18 years age group. A negative correlation was seen between TAPSE and heart rate. CONCLUSION: In the present study, the reference values for TAPSE in healthy Turkish children were presented in percentile tables and the corresponding z-scores were determined. These reference values may be useful in daily practice for the evaluation of right ventricular systolic function in children.

Outcomes of Kawasaki Disease: A Single-Center Experience.

OBJECTIVES: Kawasaki disease (KD) is an acute systemic vasculitis of unknown etiology. Coronary artery lesions (CAL) develop in 15% to 20% of untreated cases. Our objective was to evaluate demographic, clinical, and laboratory features and short-intermediate coronary artery outcomes of children with KD. PATIENTS AND METHODS: Medical records of patients with KD were retrospectively identified. Clinical information and echocardiography, laboratory, and angiographic results were noted using a standardized form. RESULTS: The study included 44 patients with a mean age of the 29.72 ± 21 months (ranging from 1 month to 9.5 years). There were 28 male and 16 female patients; 20 patients were diagnosed as having had incomplete KD. Four cases with atypical presentation were significantly older than children with complete and incomplete KD; 17 patients (38.6 %) had coronary artery aneurysm (CAA), which declined to 6.8% after intravenous immunoglobulin (IVIG) treatment. Time between fever and diagnosis and abnormal levels of hemoglobin and platelets were all associated with CAA. The children were followed up for a mean of 36.39 ± 19 months (with a maximum of 16 years). Angiographic evolution and regression of CALs have been observed in 14 (82.3%) patients. Three patients in whom CALs persisted did not receive IVIG therapy because of delayed diagnosis. CONCLUSIONS: Awareness of KD in children has led to an increase in the number of cases. Utility of IVIG treatment to reduce the coronary artery involvement in patients with delayed diagnoses should be discussed and considered. Long-term results are required to assess whether the KD represents a risk factor for coronary artery diseases seen during adulthood.

Coarctation of persistent 5th aortic arch: first report of catheter-based intervention.

Persistent 5th aortic arch, originally called double-lumen aortic arch, is a rarely reported cardiac developmental anomaly that results in systemic-to-systemic or systemic-to-pulmonary shunting. When this malformation occurs, other intracardiac defects are almost always present. We report the case of a 7-month-old girl who presented with a heart murmur; she was found to have an interrupted 4th aortic arch and coarctation of a persistent 5th aortic arch, with no other defects. To our knowledge, this is the 3rd report of a pediatric patient with this condition in isolation, and the first report of its diagnosis and treatment by means of cardiac catheterization and balloon angioplasty.

Congenital anomalies of coronary arteries in children: the evaluation of 22 patients.

Although congenital coronary artery anomalies are seen in 0.6-1 % of adult patients undergoing coronary angiography, the data for the pediatric population are few. This study of 22 children with coronary artery anomalies evaluated them in terms of demographic and clinical features and analyzed their angiographic findings and surgical results. Databases in the Department of Pediatric Cardiology at the University of Uludag were searched for all the patients with a diagnosis of congenital coronary artery anomaly who underwent coronary angiography between 1993 and 2013. Patients with coexistent congenital heart disease were excluded from the study. The study noted 22 patients (0.9 %; 10 boys and 11 girls) with coronary artery anomalies. The mean age of these patients was 58.77 ± 52.04 months (range, 1 month-16 years). Coronary arteriovenous fistula (50 %) and anomalous left coronary artery from the pulmonary artery (ALCAPA) (36 %) were the most common anomalies. In addition, the study included one patient with diffuse coronary artery hypoplasia, one patient with muscular bridge, and one patient with left main coronary artery originating from the right aortic sinus valsalva. Of the 11 patients who had coronary atrioventricular fistula, 7 were asymptomatic, whereas 75 % of the patients with ALCAPA syndrome were admitted because of heart failure. Although 13 patients had an exact diagnosis by echocardiography, 50 % of the patients with ALCAPA syndrome had their diagnosis determined by catheter angiography performed because of severe mitral regurgitation or dilated cardiomyopathy. The mortality rate for all the patients was found to be 18.1 %. Eight patients with coronary arteriovenous fistula have been followed up without surgery to the present. In contrast, seven patients with ALCAPA syndrome have undergone surgery, and three have died. Two of these patients died during the postoperative period, and the remaining patient died suddenly during the preoperative period at home. Isolated congenital coronary artery anomalies are very rare in the pediatric population. Although most congenital coronary artery anomalies are clinically silent, they may be associated with severe symptoms in children. Recognition of potentially serious anomalies such as ALCAPA syndrome is mandatory so that early surgical treatment can be prescribed.

Evaluation of subvalvular aortic stenosis in children: a 16-year single-center experience.

Subvalvular aortic stenosis accounts for 1-2 % of all congenital heart disease and for 8-20 % of cases of left-ventricular outflow tract (LVOT) obstruction in children. Recurrence of subaortic stenosis (SAS) is not uncommon after surgical management. This study was performed to investigate the clinical and surgical outcomes and to estimate the predictability of recurrences of SAS. Seventy-nine patients age 3-21 years with SAS between 1994 and 2010 were reviewed. Fifty-one patients had discrete SAS, whereas the remaining 15 patients had fibromuscular ridge-type SAS. Mean follow-up time without surgery was 22 months (range of 1-94). Forty-one patients with a diagnosis of SAS underwent surgery. Recurrence rates were 22.7 % (15 patients), and these patients developed SAS at a mean of 4.7 years follow-up. We performed second surgical membrane resection in only 1 patient. The risk of recurrence of SAS was only linked to higher preoperative LVOT gradient. Twenty-three patients had no aortic regurgitation (AR) at preoperative echocardiography. Of these, 39.1 % had trivial, 8.7 % had mild, and 8.7 % had moderate AR after surgery; there was no significant AR. We conclude that surgical intervention was required most of the time in patients with SAS, and surgical outcomes was excellent even if there were associated cardiac defects. The risk of recurrences was higher, especially in patients with higher initial LVOT gradients, although a second surgery was rarely necessary in these patients.

Prenatal echocardiographic diagnosis of cardiac right/left axis and malpositions according to standardized Cordes technique.

OBJECTIVE: The aim of this study was to evaluate distinguishing the right/left side of the fetus, cardiac axis and position according to the standardized Cordes technique in 20 cases with cardiac malposition. METHODS: We studied retrospectively 1536 cases whose fetal echocardiographic examinations were performed between 1999 and 2006 in prenatal cardiology unit. Among these, cardiac malpositions were determined in 20 cases. The cardiac axis and position were determined according to the Cordes technique. All cases were followed-up by serial fetal echocardiograms until birth or intrauterine death occurred. In cases of intrauterine death, an autopsy was performed. After birth, physical and echocardiographic examinations were done and prenatal and postnatal diagnoses were compared. RESULTS: Of 1536 fetal echocardiograms performed, 144 revealed congenital heart diseases (9.4%), among these cases 20 were diagnosed with cardiac malposition. Of cases with cardiac malposition, 16 had congenital heart disease, and four had extracardiac malformation. There were six cases of isolated dextrocardia, three cases of situs inversus totalis, six cases of situs ambiguous, and one case of situs inversus with isolated levocardia. Of four cases with extracardiac malformations, two cases had mesoposition, one had dextroposition, and one had extreme levoposition. In six cases the autopsy findings were the same as that their prenatal echocardiographic findings. When postnatal echocardiographic results of the remaining cases with cardiac malposition due to congenital heart disease were compared with prenatal diagnoses, the same echocardiographic findings were verified. CONCLUSION: The fetal right/left axis must be determined correctly for the accurate diagnosis of cardiac malpositions. Therefore, we recommend that Cordes technique provides a simple and reliable determination of the fetal right/left axis and fetal situs.

Treatment of infective endocarditis with recombinant tissue plasminogen activator.

Infective endocarditis (IE) caused by microbial infection is virtually always fatal if untreated. High-dose and long-term antibiotic treatment is required to eradicate microorganisms. If increased risk of embolic events, persistent infection, and progressive cardiac failure are present, surgery is indicated. However, surgery can carry an increased risk of mortality and morbidity in critically ill children of whom other treatment options such as administering, a thrombolytic agent; recombinant tissue plasminogen activator (r-tPA) could be an alternative choice. Here, we report a 14-year-old male with Down syndrome and acute myeloblastic leukemia, diagnosed with IE characterized by two large vegetations on aortic and mitral valves, who was successfully treated with r-tPA.