Opposite associations of plasma homoarginine and ornithine with arginine in healthy children and adolescents.

Homoarginine, a non-proteinogenic amino acid, is formed when lysine replaces ornithine in reactions catalyzed by hepatic urea cycle enzymes or lysine substitutes for glycine as a substrate of renal arginine:glycine amidinotransferase. Decreased circulating homoarginine and elevated ornithine, a downstream product of arginase, predict adverse cardiovascular outcome. Our aim was to investigate correlates of plasma homoarginine and ornithine and their relations with carotid vascular structure in 40 healthy children and adolescents aged 3-18 years without coexistent diseases or subclinical carotid atherosclerosis. Homoarginine, ornithine, arginine, asymmetric dimethylarginine (ADMA) and symmetric dimethylarginine (SDMA) were measured by liquid chromatography-tandem mass spectrometry with stable isotope-labeled internal standards. Intima-media thickness (IMT) and extra-medial thickness (EMT) of common carotid arteries were estimated by B-mode ultrasound. Homoarginine correlated with arginine (r = 0.43, p = 0.005), age (r = 0.42, p = 0.007) and, weakly, with an increased arginine-to-ornithine ratio, a putative measure of lower arginase activity (r = 0.31, p = 0.048). Ornithine correlated inversely with arginine (r = -0.64, p < 0.001). IMT, EMT or their sum were unrelated to any of the biochemical parameters (p > 0.12). Thus, opposite associations of plasma homoarginine and ornithine with arginine may partially result from possible involvement of arginase, an enzyme controlling homoarginine degradation and ornithine synthesis from arginine. Age-dependency of homoarginine levels can reflect developmental changes in homoarginine metabolism. However, neither homoarginine nor ornithine appears to be associated with carotid vascular structure in healthy children and adolescents.

Associations between endogenous dimethylarginines and renal function in healthy children and adolescents.

The structural isomer of asymmetric dimethylarginine (ADMA), symmetric dimethylarginine (SDMA), is eliminated almost entirely by urinary excretion and considered a sensitive index of glomerular filtration rate (GFR). However, reports on this relationship in healthy subjects younger than 18 years of age are rare. Therefore, our aim was to investigate relations between endogenous dimethylarginines and renal function indices in healthy children and adolescents. We studied 40 subjects aged 3­18 years free of coexistent diseases or subclinical carotid atherosclerosis. A serum creatinine-derived estimated GFR (eGFR) was calculated by the revised bedside Schwartz equation. L-arginine, ADMA and SDMA were measured by liquid chromatography-tandem mass spectrometry. Mean eGFR was 122 ± 22 (SD) mL/min per 1.73 m2. Creatinine and eGFR exhibited closer correlations with the SDMA/ADMA ratio (r = 0.64, p < 0.0001; r = −0.63, p < 0.0001, respectively) than with SDMA (r = 0.31, p = 0.05; r = −0.35, p = 0.03). Neither creatinine nor eGFR correlated with ADMA or L-arginine. Adjustment for age or height only slightly attenuated the associations between the SDMA/ADMA ratio and eGFR or creatinine. Our findings suggest the superiority of the SDMA/ADMA ratio over SDMA as a renal function index in healthy children. Thus, further studies are warranted to verify our preliminary results in a larger group of subjects below 18 years of age.

Percutaneous closure of recanalised ductus arteriosus--a single-centre experience.

INTRODUCTION: Restoration of blood flow through a previously occluded ductus arteriosus may occur in some patients. Treatment strategy in patients with such residual shunts has not yet been uniformly established. AIM: To present single-centre experience and to attempt to establish a strategy of management of patients with residual ductus arteriosus shunts following percutaneous closure. METHODS: Of 352 patients who underwent percutaneous closure of ductus arteriosus, in 13 subjects complete closure failed (coils and Rashkind occluders were used in 10 and 3 patients, respectively). In these patients other percutaneous interventions aiming at total closure of residual shunt were attempted. RESULTS: In 12 patients coils were inserted (one patient received two coils). Introduction of implant in one patient failed, but total occlusion of the shunt was confirmed one day after the procedure. Trivial residual shunt was observed in one patient after one-year follow-up. CONCLUSIONS: Percutaneous treatment of residual shunts within the ductus arteriosus is an effective and safe procedure. In our opinion identifying and treating such leaks is important, as it prevents complications and long-term need for antibiotic prevention of infective endocarditis. In the case of a small residual shunt, insertion of a coil seems to be the optimal therapy due to the low cost of the device, favourable design and high effectiveness. For patients in whom anatomy of the ductus arteriosus has been significantly changed, particularly in previously treated subjects, techniques using vascular loops or insertion using a catheter wedge may be helpful.

Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction.

BACKGROUND: Left ventricular noncompaction (LVNC) is a genetically and phenotypically heterogeneous disease and, although increasingly recognized in clinical practice, there is a lack of widely accepted diagnostic criteria. We sought to identify novel genetic causes of LVNC and describe genotype-phenotype correlations. METHODS AND RESULTS: A total of 190 patients from 174 families with left ventricular hypertrabeculation (LVHT) or LVNC were referred for cardiac magnetic resonance and whole-exome sequencing. A total of 425 control individuals were included to identify variants of interest (VOIs). We found an excess of 138 VOIs in 102 (59%) unrelated patients in 54 previously identified LVNC or other known cardiomyopathy genes. VOIs were found in 68 of 90 probands with LVNC and 34 of 84 probands with LVHT (76% and 40%, respectively; P<0.001). We identified 0, 1, and ≥2 VOIs in 72, 74, and 28 probands, respectively. We found increasing number of VOIs in a patient strongly correlated with several markers of disease severity, including ratio of noncompacted to compacted myocardium (P<0.001) and left ventricular ejection fraction (P=0.01). The presence of sarcomeric gene mutations was associated with increased occurrence of late gadolinium enhancement (P=0.004). CONCLUSIONS: LVHT and LVNC likely represent a continuum of genotypic disease with differences in severity and variable phenotype explained, in part, by the number of VOIs and whether mutations are present in sarcomeric or nonsarcomeric genes. Presence of VOIs is common in patients with LVHT. Our findings expand the current clinical and genetic diagnostic approaches for patients with LVHT and LVNC.

[Isolated non-compaction of the left ventricular myocardium in a neonate--a case report]. / Kardiomiopatia gabczasta u noworodka.

We describe a case of a neonate who developed cardiogenic shock 24 days after birth. Echocardiography revealed congenital anomaly--isolated non-compaction of the left ventricular myocardium. Medical treatment was effective. The whole clinical presentation suggests the Barth syndrome. The diagnosis and treatment of this condition are discussed.

[Developmental anomaly of superior vena cava as a reason hampering vein-port catheter implantation]. / Nieprawidlowy splyw ukladu zyly glównej górnej jako przyczyna uniemozliwiajaca wszczepienie portu naczyniowego.

Occasionally unexpected technical difficulties occur during Port-A-Cath implantation and the central venous catheterization. We described a case of superior vena cava developmental anomaly diagnosed during Port-A-Cath implantation.

Temporary left ventricular assistance for extreme postoperative heart failure in two infants with Bland-White-Garland syndrome.

Anomalous origin of the left coronary artery from the pulmonary artery (Bland-White-Garland syndrome - BWG) is a serious congenital cardiac anomaly leading to myocardial ischemia with severe heart failure. Immediate surgical correction is the treatment of choice, and the risk of postoperative complications depends on the degree of myocardial injury. The authors present two cases of infants with BWG, in whom long-term (175 and 26 days) left ventricular assistance with a Berlin Heart device was used, resulting in successful weaning from the support and subsequent hospital discharge. Because of serious hemorrhagic complications and their neurological consequences observed in the first patient, the anticoagulation protocol was modified in the second patient, providing more stable support and allowing the device to be removed after a shorter period of time. The Berlin Heart left ventricular assist device may be treated not only as a bridge for transplantation but also, considering the shortage of donors in this age group, as a bridge to recovery.

[Evaluation of thromboembolic complications in children treated for acute lymphoblastic leukemia with Vascuport catheters]. / Ocena powiklan zakrzepowo-zatorowych u dzieci leczonych z powodu bialaczki limfoblastycznej z zastosowaniem cewników typu Vascuport.

The aim of the work was to evaluate the safety of Vascuport catheter long-term application in children treated for acute lymphoblastic leukemia (ALL). 21 children treated in the Department of Pediatric and Hematology in Zabrze were enrolled in the study. Echocardiography and ultrasonography were performed to examine Vascuport catheter in the central vein. Coagulation parameters were estimated too. None of the children presented symptoms of pulmonary embolism or venous thrombosis. Thrombotic material was found on the course of Vascuport catheter in 5 (23%) children. Changes in the hemostatic system: increased d-dimmer levels in 2 (9%), increased fibrinogen level in 7 (33%), decreased value of APC-R in 7 (33%) and protein C in 8 (38%) children were observed. Changes of hemostatic system and presence of thrombotic material on the course of Vascuport catheter in 23% of the patients with ALL imply the necessity of rigorous monitoring of haemostatic system as well as Vascuport catheter in the central vein. In case the risk factors of thrombotic events or their clinical symptoms are present anticoagulant therapy should be introduced.

X-ray fluorescence determination of the loss of chosen electrolytes in the urine of children with a congenital cyanotic heart defect and after heart transplantation.

In this paper results of the analysis of urine samples of healthy children and children with a congenital cyanotic heart defect and after heart transplantation are presented. The analysis of urine samples was carried out by X-ray fluorescence spectrometry with wavelength dispersion and using CRM urine Seronorm as a reference. It was found that for patients with a congenital cyanotic heart defect the loss of electrolytes like Na, Cl and K was increased. Moreover, urine samples of children from areas of different degree of environmental pollution were analysed. We observed (as expected) higher concentrations of heavy metals in the urine of children from ecological polluted areas.

[Successful chronic treatment with sildenafil in a patient with end-stage heart failure following Fontan procedure]. / Skuteczna przewlekla terapia sildenafilem u pacjenta ze schylkowa niewydolnoscia serca po operacji Fontana.

We present a case of a 21 year-old man who has had Fontan type correction 17 years ago with symptoms of severe heart insufficiency (III NYHA class, cahectic, with massive peripheral oedema and ascites) caused by increased pulmonary vascular resistance and increased pulmonary artery pressure. He was treated successfully with long term sildenafil medication.