A Genotyped Case of Townes-Brocks Syndrome with Absent Pulmonary Valve Syndrome from Turkey.

Townes-Brocks syndrome (TBS) is a rare syndrome characterized by triad of anal, ear, and thumb anomalies. Further malformations/anomalies include congenital heart diseases, foot malformations, sensorineural and/or conductive hearing impairment, genitourinary malformations, and anomalies of eye and nervous system. Definitive diagnosis for TBS is confirmed by molecular analysis for mutations in the SALL1 gene. Only one known case of TBS with absent pulmonary valve syndrome (APVS) has been previously described to our knowledge. Here, we report a newborn diagnosed with TBS with APVS and tetralogy of Fallot (TOF) who was found to carry the most common pathogenic SALL1 gene mutation c.826C > T (p.R276X), with its surgical repair and postoperative follow-up. To our knowledge, this is the first genotyped case of TBS from Turkey to date. TBS should be suspected in the presence of ear, anal, and thumb malformations in a neonate. If a patient with TBS and TOF-APVS needs preoperative ventilation within the first months of life, this implies prolonged postoperative intubation and increased risk of mortality.

Correlation between Perfusion Index and Left Ventricular Output in Healthy Late Preterm Infants.

OBJECTIVE: The perfusion index (PI) is a noninvasive marker derived from photoelectric plethysmographic signals in pulse oximetry in the evaluation of peripheral perfusion. This study was aimed to determine the correlation between PI and left ventricular output (LVO) in healthy late preterm infants at 48th hour of life. STUDY DESIGN: With new generation pulse oximeter (MASIMO Rad 7 Oximeter) pre- and post-ductal PI values were recorded from healthy late preterm babies at the 48th hour of life. PI was determined simultaneously with LVO as measured by transthoracic echocardiography. RESULTS: A total of 50 late preterm babies were included in the study. The mean gestational age of the cases was 35.4 ± 0.7 weeks and the birth weight was 2,586 ± 362 g. Mean pre- and post-ductal PI values at the postnatal 48th hour of babies' life were found to be 2.0 ± 0.9 and 1.7 ± 1.1. The mean LVO value was 438 ± 124, LVO/kg 175 ± 50. When the LVO value was normalized according to the babies' body weight, there was no statistically significant correlation between the pre- and post-ductal PI and the LVO/kg value (r <0.2, p >0.05 in both comparisons). CONCLUSION: There was no correlation between pre- and post-ductal PI and LVO values in healthy late preterm infants. This may be due to the failure of the LVO, a systemic hemodynamic parameter, to accurately reflect microvascular blood flow due to incomplete maturation of the sympathetic nervous system involved in the regulation of peripheral tissue perfusion in preterm babies. KEY POINTS: · No correlation found between PI and LOV in preterm babies.. · LVO cannot adequately reflect peripheral blood flow.. · Sympathetic nervous system is immature in preterm infants..

Treatment of Permanent Junctional Reciprocating Tachycardia in a Preterm Neonate: Case Report.

Permanent junctional reciprocating tachycardia (PJRT) is most often observed in infants and children and can lead to incessant tachycardia. PJRT is usually refractory to medical treatment. Tachycardia may infrequently occur in the fetus in which case fetal tachycardia transplacental treatment should be started immediately. Term delivery is recommended for fetuses with tachycardia in the absence of significant clinical compromise to avoid complications of preterm birth. Herein, a 36-week preterm neonate presented with PJRT. He had tachycardia in the fetal period and was treated with digoxin, amiodaron, and esmolol therapy after birth without undergoing the catheter ablation procedure.

Should we start a nationwide screening program for critical congenital heart disease in Turkey? A pilot study on four centres with different altitudes.

BACKGROUND: To investigate the feasibility of critical congenital heart disease (CCHD) screening test by pulse oximetry in four geographical regions of Turkey with different altitudes, before implementation of a nationwide screening program. METHODS: It was a prospective multi-centre study performed in four centres, between December, 2015 and May, 2017. Pre- and post-ductal oxygen saturations and perfusion indices (PI) were measured using Masimo Radical-7 at early postnatal days. The results were evaluated according to the algorithm recommended by the American Academy of Pediatrics. Additionally, a PI value <0.7 was accepted to be significant. RESULTS: In 4888 newborns, the mean screening time was 31.5 ± 12.1 hours. At first attempt, the mean values of pre- and post-ductal measurements were: saturation 97.3 ± 1.8%, PI 2.8 ± 2.0, versus saturation 97.7 ± 1.8%, PI 2.3±1.3, respectively. Pre-ductal saturations and PI and post-ductal saturations were the lowest in Centre 4 with the highest altitude. Overall test positivity rate was 0.85% (n = 42). CCHD was detected in six babies (0.12%). Of them, right hand (91 ± 6.3) and foot saturations (92.1 ± 4.3%) were lower compared to ones with non-CCHD and normal variants (p <0.05, for all comparisons). Sensitivity, specificity, positive and negative predictive values, and likelihood ratio of the test were: 83.3%, 99.9%, 11.9%, 99.9%, and 99.2%, respectively. CONCLUSION: This study concluded that pulse oximetry screening is an effective screening tool for congenital heart disease in newborns at different altitudes. We support the implementation of a national screening program with consideration of altitude differences for our country.

Clinical characteristics of pediatric patients with first-attack acute rheumatic fever following the updated guideline.

AIM: To evaluate the clinical features of children diagnosed as having acute rheumatic fever between June 2015 and November 2018, and the changes observed in patient groups in comparison with data obtained in previous years. The diagnosis of acute rheumatic fever was made using the updated Jones criteria. MATERIAL AND METHODS: The medical records of pediatric patients who were diagnosed as having acute rheumatic fever between June 2015 and November 2018 using the updated criteria, were examined retrospectively. The data of a previous study that used the old criteria were reorganized and the two groups were compared. RESULTS: A total of consecutive 50 patients [22 males (44%)] who presented in the study period and were diagnosed as having first-attack acute rheumatic fever, were included in our study. Carditis was found in 42 (84%) patients. Manifest carditis was found in 24 patients and silent carditis was found in 18 patients. Joint involvement was present in 34 (68%) patients. Accompanying carditis was present in all 14 patients (28%) who were found to have chorea. Erythema marginatum and subcutaneous nodules were not found in our patients. When evaluated in terms of the updated criteria, a diagnosis of rheumatic fever was made with silent carditis+polyarthralgia in two patients, with silent carditis+monoarthritis in two patients, with polyarthralgia in four patients, and with monoarhtritis in one patient in our study. A diagnosis could be made by means of the updated criteria in a total of 9 (18%) patients. When compared with the previous study, an increase in the rate of silent carditis (from 21.8% to 36%) and a reduction in the rate of total carditis (from 92% to 84%) were found. CONCLUSION: Our results show that the updated Jones criteria prevent under diagnosis of acute rheumatic fever in an important number of patients.

Repeated Courses of Oral Ibuprofen in Premature Infants with Patent Ductus Arteriosus: Efficacy and Safety.

BACKGROUND: There are limited data about the results of repeated oral ibuprofen (OIBU) treatment. This study aimed to describe patent ductus arteriosus (PDA) closure rates and adverse events after repeated courses of OIBU in premature infants with PDA. METHODS: Preterm infants with hemodynamically significant (hs)PDA were enrolled in the study. If the first course of OIBU treatment failed, a second and, if required, third course was administered. RESULTS: A total of 100 patients received OIBU. In six patients, treatment could not be completed due to death (n=3) and side effects (n=3). In three patients, adverse effects related to OIBU (thrombocytopenia and impairment of renal function) developed during the first course. During the second and third courses, no new adverse event occurred. After all courses, the PDA closure rate was determined as 88%. The rate was 71% after the first course, 40% after the second course, and 35% after the third course. Although the second course resulted in a significant increase in the closure rate (p<0.05), the rate did not increase significantly with the third course (p>0.05). The mean postnatal age at the start of the first dose of OIBU was not significantly different among the responders and non-responders to the first course (p>0.05). Clinical characteristics did not affect the closure rate significantly. The number of courses did not have a significant effect on death, when gestational age and birth weight were used as covariates [p=0.867, Exp(B)=0.901, 95% confidence interval=0.264-3.1]. CONCLUSION: A second course of OIBU seems effective and safe for use in preterm infants with hsPDA. Although a third course of OIBU results in PDA closure in some additional patients, the difference is not significant. Thus, surgical ligation should be considered after the second course, especially in patients with signs of severe heart failure.

May we use ibuprofen as doses against courses in the treatment of patent ductus arteriosus in premature infants?

OBJECTIVE: We aimed to investigate the efficacy of ibuprofen doses in closing patent ductus arteriosus (PDA) and the possibility of reducing drug-related complications by reducing dose number. METHODS: We performed a prospective study with 60 premature infants (≤33 weeks) who were treated with enteral ibuprofen for hsPDA. Echocardiographic examinations were performed before each dose. Treatment was stopped when PDA was closed and patients were followed for reopening and complications. RESULTS: Rates of closure were 28.3%, 44.1%, 54.1%, 36.3%, 42.8% and 50.0% with the 1st, 2nd, 3rd, 4th, 5th and 6th doses. No closure was observed with 7th, 8th and 9th doses. Reopening was observed only in patients whose PDA closed with the 1st (3.3%), 2nd (1.6%) and 3rd (1.6%) doses. PDA diameters were higher in patients who required >4 doses. Complications were rare (6.6%) but unrelated with dose number. CONCLUSIONS: We conclude that it is possible to minimize ibuprofen exposure and achieve high closure rates of PDA in premature infants by performing echocardiography before each dose. PDA diameter should be used to estimate the duration of treatment. This approach is not effective in reducing complication rates and must be performed in attention to reopening especially for the first three doses.

Intravenous paracetamol with a lower dose is also effective for the treatment of patent ductus arteriosus in pre-term infants.

INTRODUCTION: Haemodynamically significant patent ductus arteriosus is a significant cause of morbidity and mortality in pre-term infants. This retrospective study was conducted to investigate the usefulness of lower-dose paracetamol for the treatment of patent ductus arteriosus in pre-term infants. MATERIALS AND METHODS: A total of 13 pre-term infants who received intravenous paracetamol because of contrindications or side effects to oral ibuprofen were retrospectively enrolled. In the first patient, the dose regimen was 15 mg/kg/dose, every 6 hours. As the patient developed significant elevation in transaminase levels, the dose was decreased to 10 mg/kg/dose, every 8 hours in the following 12 patients. Echocardiographic examination was conducted daily. In case of closure, it was repeated after 2 days and when needed thereafter in terms of reopening. RESULTS: A total of 13 patients received intravenous paracetamol. Median gestational age was 29 weeks ranging from 24 to 31 weeks and birth weight was 950 g ranging from 470 to 1390 g. The median postnatal age at the first intravenous paracetamol dose was 3 days ranging from 2 to 9 days. In 10 of the 13 patients (76.9%), patent ductus arteriosus was closed at the median 2nd day of intravenous paracetamol ranging from 1 to 4 days. When the patient who developed hepatotoxicity was eliminated, the closure rate was found to be 83.3% (10/12). CONCLUSION: Intravenous paracetamol may be a useful treatment option for the treatment of patent ductus arteriosus in pre-term infants with contrindication to ibuprofen. In our experience, lower-dose paracetamol is effective in closing the patent ductus arteriosus in 83.3% of the cases.

Dilated cardiomyopathy secondary to rickets-related hypocalcaemia: eight case reports and a review of the literature.

INTRODUCTION: Dilated cardiomyopathy is usually idiopathic and may arise secondary to infections or metabolic or genetic causes. Another rare cause is hypocalcaemia. Owing to the fact that calcium plays an essential role in excitation and contraction of myocardial muscle, myocardial contractility may decline in patients with hypocalcaemia. MATERIALS AND METHODS: Patients with symptoms of congestive heart failure and rickets-related hypocalcaemia were assessed clinically and by echocardiography in a paediatric cardiology clinic. Echocardiography was performed for all patients. Rickets was diagnosed according to the clinical, laboratory, and radiologic findings. Maternal lifestyle and living conditions were investigated, and the maternal 25-OH vitamin D3 blood level was measured. RESULTS: We evaluated eight patients who developed heart failure as a result of severe hypocalcaemia associated with rickets between August, 1999 and June, 2012. The age distribution of the patients was 3-12 months. Laboratory results were consistent with advanced-stage rickets. Severe hypocalcaemia was detected in all patients. The maternal 25-OH vitamin D3 levels were low. Echocardiography revealed increased pre-treatment left ventricle end-systolic and end-diastolic diameters for age and reduced ejection fraction and fractional shortening. After clinical improvement, the patients were discharged. CONCLUSIONS: Severe hypocalcaemia associated with rickets must always be kept in mind among the causes of dilated cardiomyopathy and impaired cardiac function in infants. If diagnosed and treated in time, dilated cardiomyopathy and severe heart failure related to rickets respond well.

Rare cause of absence of femoral arterial pulse: bilateral common iliac artery hypoplasia.

Congenital anomaly of the iliac arteries is rare, and, given that patients are generally asymptomatic, diagnosis in the newborn period is difficult. Herein is presented the case of a newborn with bilateral hypoplasia of the common iliac arteries, seen on multi-slice computed tomography while investigating the absence of femoral pulse. This anomaly is a rare cause of absence of femoral arterial pulse.

Clinical experience with recombinant tissue plasminogen activator in the management of intracardiac and arterial thrombosis in children.

Thrombotic events may complicate the clinical course of many pediatric diseases. Drugs for therapeutic thrombolysis include streptokinase, urokinase and tissue plasminogen activator (t-PA). There is less experience with recombinant t-PA (rt-PA) in children. We aimed to present our experiences with rt-PA in children with intracardiac or peripheral arterial thrombus. We retrospectively reviewed the children who received rt-PA for thrombus. Twenty-two children (13 boys, 9 girls; age range: 1 day-17 years) with intracardiac (n = 5), prosthetic heart valve (n = 2) and peripheral arterial (n = 15) thrombus were evaluated. Twelve (54%) had congenital heart disease, two (9%) had rheumatic heart disease, three (14%) had leukemia and five (23%) had documented sepsis, prematurity or meconium aspiration syndrome. Ten of the 15 peripheral arterial thromboses were observed following cardiac catheterization. Three of the five intracardiac thrombi were detected in children with leukemia. All children received low-molecular-weight heparin. rt-PA (alteplase) infusion (at a dose of 0.01-0.5 mg/kg per h) was administered for different time periods (3-66 h). Ten of 11 patients with peripheral arterial occlusion and three of five patients with intracardiac thrombus showed full recovery. However, there was no response in two patients with intracardiac thrombus and in two patients with heart valve thrombus. Nose bleeding, melena and decreased serum fibrinogen concentration were observed in seven patients during the rt-PA infusion. All bleedings stopped after cessation of rt-PA infusion, and no blood transfusion was required in any patient. We conclude that rt-PA infusion seems effective and well tolerated in children for the treatment of peripheral arterial and intracardiac thrombus.

Accelerated junctional rhythm in children with acute rheumatic fever: is it specific to the disease?

OBJECTIVE: During the course of acute rheumatic fever, some electrocardiographic changes are seen. First-degree atrioventricular block is the most common electrocardiographic abnormality. Second- and third-degree atrioventricular block, ventricular tachycardia, and junctional acceleration are also seen. In the present study, the specificity of accelerated junctional rhythm to acute rheumatic fever was INVESTIGATED. METHODS: The study included patients with acute rheumatic fever (Group 1), healthy children who had suffered from recent group A ß-haemolytic streptococcal upper respiratory tract infection but did not develop acute rheumatic fever (Group 2), and patients who had other diseases that may affect the joints and/or heart (Group 3). RESULTS: Accelerated junctional rhythm was detected in 10 patients in Group 1, but in none of the patients from Group 2 or 3. Specificity of accelerated junctional rhythm for acute rheumatic fever was 100% and the positive predictive value was 100%. CONCLUSION: Accelerated junctional rhythm is specific to acute rheumatic fever. Although its frequency is low, it seems that it can be used in the differential diagnosis of acute rheumatic fever, especially in patients with isolated polyarthritis.

Clinical characteristics of neonates with VACTERL association.

BACKGROUND: The VACTERL association (VA) is the non-random co-occurrence of vertebral anomalies, anal atresia, cardiovascular malformations, tracheoesophageal fistula and/or esophageal atresia, renal anomalies, and/or limb anomalies, and is referred to by the first letters of its components. Studies investigating the clinical characteristics of VA patients and probing of the observed current six component types are limited, and none of them is focused on neonates. We investigated the clinical characteristics of our patients diagnosed as having VA in the newborn period. METHODS: We retrospectively reviewed the neonates whose final diagnosis was VACTERL association. Presence of at least three components of previously reported six anomalies was accepted as VACTERL association. Sex, birthweight, gestational age, postnatal age, anomalies of the systems that are included in VA, and the other features were recorded. RESULTS: There was a male predominance (14/11) of 28 patients; and there were three patients with ambiguous genitalia. The most common observed VACTERL component was vertebral anomalies (n= 26), followed by anal atresia (n= 19), tracheoesophageal fistula/esophageal atresia (n= 17), renal anomalies (n= 15), limb anomalies (n= 15) and cardiac anomalies (n= 14). The most frequent combination was VCTL (n= 4). Fifteen (57%) patients had non-VACTERL anomalies and the most frequent of these was ambiguous genitalia (n= 3). CONCLUSION: VA patients may have different clinical characteristics in different populations, and clinicians may miss some component features if the patients are evaluated after the neonatal period.

Heart rate variability in children with acute rheumatic fever.

OBJECTIVE: Acute rheumatic fever is a systemic inflammatory disease occurring after acute streptococcal tonsillopharyngitis. The PR prolongation in these patients is thought to be due to increased vagal activity. There has been no previous study investigating the autonomic balance in patients with acute rheumatic fever. In this study, we aimed to investigate the balance of the autonomic nervous system in children with acute rheumatic fever by analysis of heart rate variability. METHODS: We evaluated the heart rate variability parameters in 50 patients with acute rheumatic fever and 37 comparable control subjects. Both groups underwent 24-hour electrocardiography monitoring, and time- and frequency-domain heart rate variability parameters were calculated. A total of 39 patients (78%), with (n = 28) or without (n = 11) other major findings, had carditis, and the remaining 11 (22%) did not. The PR interval was found to be prolonged in 10 (20%) of the patients at the beginning. RESULTS: In the study group, the time- and frequency-domain heart rate variability parameters showed a sympathetic dominance compared with the control group, with a p-value less than 0.05. When compared with the control group, the time- and frequency-domain heart rate variability parameters showed a significant sympathetic dominance in patients with both prolonged PR and normal PR intervals in the acute period, with a p-value less than 0.05. When compared with patients with normal PR interval, mean normalised low frequency and normalised high frequency parameters suggested a relatively lower sympathetic dominance in patients with prolonged PR interval, with a p-value less than 0.05. CONCLUSION: Our results indicated that in the acute period of rheumatic fever, sympathetic dominance is apparent; in patients with prolonged PR interval, sympathetic dominance is relatively lower when compared with the patients with normal PR interval.

Midterm experience with implantable cardioverter-defibrillators in children and young adults.

AIMS: This single-centre study was undertaken to review our experience with implantable cardioverter-defibrillator (ICD) implantation in children with relatively different aetiologies. METHODS AND RESULTS: We retrospectively reviewed the records of the paediatric patients who underwent ICD implantation between October 2001 and December 2008. The data of these patients were collected by reviewing the patients' medical records and computerized departmental pacemaker databases. A total of 28 patients who underwent ICD implantation during this period were included in this study. The median age was 12 years and median weight was 32 kg. Most of the patients had ion-channel diseases (n = 13) or cardiomyopathy (n = 11). Devices were implanted for either secondary (n = 22) or primary (n = 6) prevention. The selected ICD generator type was single chamber in 22 patients, dual chamber in 5 patients, and biventricular in 1. Nineteen patients received 122 shocks. Fifteen of 22 patients (68.2%) from the secondary prevention group and 2 of 6 patients (33.3%) from the primary prevention group experienced at least one appropriate shock during a median period of 11.3 months (range: 4 days-6.5 years). Forty-two inappropriate shocks were delivered in seven (31.8%) patients from the secondary prophylaxis group during a median period of 11.3 months. The most important reason for inappropriate shocks was T-wave oversensing. In six patients, lead-related acute or chronic complications occurred. CONCLUSION: The ICD was safe and effective in interrupting malignant arrhythmias in children and adolescents with a high risk of sudden cardiac death. However, the occurrence of lead complications is significant. The incidence of therapies delivered by the device, with appropriate and inappropriate shocks, was high and interfered with the quality of life. The most important reason for inappropriate shocks was T-wave oversensing. Careful programming is mandatory to reduce the inappropriate shocks.

Asymptomatic rhythm and conduction abnormalities in children with acute rheumatic fever: 24-hour electrocardiography study.

Some rhythm and conduction abnormalities can occur in children with acute rheumatic fever. These abnormalities have been defined based on standard electrocardiography; however, the real prevalence of these abnormalities has not been investigated previously by the evaluation of long-term electrocardiographic recordings. In this study, we evaluated the asymptomatic rhythm and conduction abnormalities in children with acute rheumatic fever by evaluating the 24-hour electrocardiography. We evaluated the standard electrocardiography and the 24-hour electrocardiography of 64 children with acute rheumatic fever. On standard electrocardiography, the frequency of the first-degree atrioventricular block was found to be 21.9%. Electrocardiography at 24 hours detected three additional and separate patients with a long PR interval. Mobitz type I block and atypical Wenckebach periodicity were determined in one patient (1.56%) on 24-hour electrocardiography. While accelerated junctional rhythm was detected in three patients on standard electrocardiography, it was present in nine patients according to 24-hour electrocardiography. Premature contractions were present in 1.7% of standard electrocardiography, but in 29.7% of 24-hour electrocardiography. Absence of carditis was found to be related to the presence of accelerated junctional rhythm (p > 0.05), and the presence of carditis was found to be related to the presence of premature contractions (p = 0.000). In conclusion, our results suggest that in children with acute rheumatic fever, the prevalence of rhythm and conduction abnormalities may be much higher than determined on standard electrocardiography. Further studies are needed to clarify whether or not these abnormalities are specific to acute rheumatic fever.