Effect of Magnesium on Ventricular Extrasystoles in Children.

Magnesium (Mg) is a crucial element for cardiovascular system and its deficiency results in a variety of cardiac arrhythmias. The aim of this study is to determine the effect of oral Mg supplementation on the frequency of ventricular extrasystoles (VES) in children. Magnesium supplementation was given to 42 children who had VES without structural heart disease. Clinical, electrocardiographic, and Holter monitoring studies were reviewed. The mean baseline 24 h VES burden on Holter monitoring was 10.26% ± 4.13% and it was decreased to 6.62% ± 3.88% after. There was no significant difference between the pre-treatment serum Mg levels and the decrease in the frequency of VES. In conclusion, oral Mg therapy was found to be effective at suppressing VES in children regardless of serum Mg levels. Large and randomized studies are needed to demonstrate the effect of magnesium on VES suppression.

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.

Ventricular Extrasystole in Children: Single-Center Experience.

OBJECTIVE: Ventricular extrasystole is one of the most common rhythm disorders in children, and almost all of them are characterized by normal cardiac functions without structural cardiac abnormalities. The aim of this study was to assess the clinical course of ventricular extrasystole in children who did not have cardiac structural abnormalities. MATERIALS AND METHODS: This retrospective study analyzed 24-hour rhythm Holter recordings performed in our clinic in children. Patients diagnosed with isolated ventricular extrasystole in Holter records and without structural heart disease on echocardiography were included in the evaluation. RESULTS: A total of 20 160 Holter results were evaluated in the study, and 226 patients (male; 66%) met the criteria. The mean follow-up time was 8.7 ± 3.2 years. While 81.8% of the patients were asymptomatic, the most common symptom was palpitation and 5 patients had syncope. Of the patients, 72 (31.8%) received medical therapy. Beta-blockers were the most often pre- scribed medication. Cardiomyopathy did not develop in any of the patients during the follow- up period. A partial reduction in the frequency of ventricular extrasystole was observed in 42% of the patients, while complete recovery was observed in 22%. CONCLUSION: Ventricular extrasystole in children generally has a good prognosis; most of them are asymptomatic, and the rates of spontaneous regression over time are quite high, regard- less of the origin.

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.

Successful management with bisphosphonate treatment in a child with tuberculosis-associated hypercalcemia.

Hypercalcemia is a common metabolic abnormality in children and generally occurs due to hyperparathyroidism, vitamin D toxicity, some genetic disorders and malignant diseases. Granulomatous diseases are a rare cause of hypercalcemia in children, which are usually mild and asymptomatic. Severe hypercalcemia in granulomatous diseases has also been reported in the literature. Here, we report a child presenting with severe hypercalcemia secondary to miliary tuberculosis with successful management with bisphosphonate treatment. Increased 1,25(OH)2D3 synthesis by activated macrophages in the granuloma tissue is the major mechanism of hypercalcemia in tuberculosis.

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.

Correction: Arterial tortuosity syndrome: 40 new families and literature review.

In the published version of this paper the author Neus Baena's name was incorrectly given as Neus Baena Diez. This has now been corrected in both the HTML and PDF versions of the paper.

Arterial tortuosity syndrome: 40 new families and literature review.

PURPOSE: We delineate the clinical spectrum and describe the histology in arterial tortuosity syndrome (ATS), a rare connective tissue disorder characterized by tortuosity of the large and medium-sized arteries, caused by mutations in SLC2A10. METHODS: We retrospectively characterized 40 novel ATS families (50 patients) and reviewed the 52 previously reported patients. We performed histology and electron microscopy (EM) on skin and vascular biopsies and evaluated TGF-ß signaling with immunohistochemistry for pSMAD2 and CTGF. RESULTS: Stenoses, tortuosity, and aneurysm formation are widespread occurrences. Severe but rare vascular complications include early and aggressive aortic root aneurysms, neonatal intracranial bleeding, ischemic stroke, and gastric perforation. Thus far, no reports unequivocally document vascular dissections or ruptures. Of note, diaphragmatic hernia and infant respiratory distress syndrome (IRDS) are frequently observed. Skin and vascular biopsies show fragmented elastic fibers (EF) and increased collagen deposition. EM of skin EF shows a fragmented elastin core and a peripheral mantle of microfibrils of random directionality. Skin and end-stage diseased vascular tissue do not indicate increased TGF-ß signaling. CONCLUSION: Our findings warrant attention for IRDS and diaphragmatic hernia, close monitoring of the aortic root early in life, and extensive vascular imaging afterwards. EM on skin biopsies shows disease-specific abnormalities.

"Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports".

BACKGROUND: Jervell and Lange-Nielsen syndrome (JLNS) isa recessive model of long QT syndrome which might also be related to possible hearing loss. Although the syndrome has been demonstrated to be originated from homozygous or compound heterozygous mutations in either the KCNQ1 or KCNE1 genes, additional mutations in other genetic loci should be considered, particularly in malignant course patients. CASE PRESENTATIONS: Three patients were admitted into hospital due to recurrent seizures/syncope, intrauterine and postnatal bradycardia respectively; moreover all three patients had congenital sensorineural hearing-loss. Their electrocardiograms showed markedly prolonged QT interval. Implantable defibrillator was implanted and left cardiac sympathetic denervation was performed due to the progressive disease in case 1. She had countless ventricular fibrillation and appropriate shock while using an implantable defibrillator. The DNA sequencing analysis of the KCNQ1 gene disclosed a homozygous c.728G > A (p.Arg243His) missense mutation in case1. Further targeted next generation sequencing of cardiac panel comprising 68 gene revealed a heterozygous c.1346 T > G (p.Ile449Arg) variant in RYR2 gene and a heterozygous c.809G > A (p.Cys270Tyr) variant in NKX2-5 gene in the same patient. Additional gene alterations in RYR2 and NKX2-5 genes were thought to be responsible for progressive and malignant course of the disease. As a result of DNA sequencing analysis of KCNQ1 and KCNE1 genes, a compound heterozygosity for two mutations had been detected in KCNQ1 gene in case 2: a maternally derived c.477 + 1G > A splice site mutation and a paternally derived c.520C > T (p.Arg174Cys) missense mutation. Sanger sequencing of KCNQ1 and KCNE1 genes displayed a homozygous c.1097G > A (p.Arg366Gln) mutation in KCNQ1 gene in case 3. ß-blocker therapy was initiated to all the index subjects. CONCLUSIONS: Three families of JLNS who presented with long QT and deafness and who carry homozygous, or compound heterozygous mutation in KCNQ1 gene were presented in this report. It was emphasized that broad targeted cardiac panels may be useful to predict the outcome especially in patients with unexplained phenotype-genotype correlation. Clinical presentations and molecular findings will be discussed further to clarify the phenotype genotype associations.

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.