A5049694681- Congenital Heart Disease Studies
- Mechanical Circulatory Support Devices
- Cardiovascular Issues in Pregnancy
- Aortic Disease and Treatment Approaches
- Systemic Lupus Erythematosus Research
- Cardiac Structural Anomalies and Repair
- Blood Coagulation and Thrombosis Mechanisms
- Pulmonary Hypertension Research and Treatments
- Cardiac Arrhythmias and Treatments
- Viral Infections and Immunology Research
- Neonatal Respiratory Health Research
- Ultrasound in Clinical Applications
- Congenital Diaphragmatic Hernia Studies
- Platelet Disorders and Treatments
- Vascular anomalies and interventions
- Tracheal and airway disorders
- Blood groups and transfusion
- Cardiovascular and Diving-Related Complications
- Phonocardiography and Auscultation Techniques
- RNA modifications and cancer
- Hemodynamic Monitoring and Therapy
- Genetics and Neurodevelopmental Disorders
- Streptococcal Infections and Treatments
- Protein Tyrosine Phosphatases
- Galectins and Cancer Biology
Ljubljana University Medical Centre
2004-2021
College of Nursing in Celje
2021
The molecular genetic basis of pulmonary arterial hypertension (PAH) is heterogeneous, with at least 26 genes displaying putative evidence for disease causality. Heterozygous variants in the ATP13A3 gene were recently identified as a new cause adult-onset PAH. However, contribution risk alleles to child-onset PAH remains largely unexplored.We report three families novel, autosomal recessive form childhood-onset due biallelic variants. Disease onset ranged from birth 2.5 years and was...
To assess the accuracy of prenatal diagnosis, association with genetic and extracardiac anomalies, outcome in fetuses isolated pulmonary atresia ventricular septal defect (PA-VSD).Retrospective study a tertiary centre for fetal cardiology.Echocardiographic video recordings 27 consecutive PA-VSD were reviewed for: (1) intracardiac anatomy; (2) presence confluence size branch arteries; (3) source blood supply; (4) side aortic arch. Postmortem postnatal data added. Karyotyping was performed 25...
Limited data exist on training of European paediatric and adult congenital cardiologists.A structured approved questionnaire was circulated to national delegates Association for Paediatric Congenital Cardiology in 33 countries.Delegates from 30 countries (91%) responded. cardiology not recognised as a distinct speciality by the respective ministry Health seven (23%). Twenty (67%) have formally accredited programmes, (23%) substantial informal (not or certified) training, three (10%) very...
Abstract Objective To evaluate the diagnosis, clinical features, management and post-natal follow-up in consecutive fetuses identified with tachycardia. Methods We reviewed tachycardia a single tertiary institution between January, 2001, December, 2008. considered several options for management, including no treatment but close surveillance, trans-placental antiarrhythmic therapy presenting prior to 36 weeks of gestation, delivery as neonate after gestation. Data was gathered by review...
Isolated congenital heart block is almost invariably associated with the presence of antibodies to SSA/Ro and SSB/La antigens in maternal circulation. Once established, third-degree permanent. However, a lesser degree autoantibody-associated fetus can be reversed if it recognized treated early enough fluorinated glucocorticosteroids. The only method available clinically for recognition first-degree measurement mechanical PR interval by pulsed Doppler echocardiography. This first report whom...
Noonan syndrome is a relatively common and heterogeneous genetic disorder, including congenital heart defect in more than half of the cases. If not large, life expectancy normal. Here we report on case an infant with rapidly progressive hypertrophic cardiomyopathy lethal outcome, whom identified novel mutation KRAS gene. This heterozygous unclassified missense variant exon 3: c.179G>T (p.Gly60Val) might be associated form syndrome. The malignant clinical course disease outcome only few...
Abstract Isolated complete congenital heart block (CCHB) in a fetus is usually associated with the presence of autoantibodies to SSA (Ro) and SSB (La) antigens maternal circulation. Although prognosis for majority fetuses good, it less favorable ventricular rate < 55 bpm early pregnancy or decrease by ≥ 5 during pregnancy. It not known if same prognostic criteria apply occasional isolated non‐autoimmune CCHB. We report case single an CCHB extremely low (37 bpm) which outcome was...
A fetal third-degree atrio-ventricular block was diagnosed in a 22-year-old woman at 24 weeks of gestation. During clinical follow-up mild to moderate tricuspid regurgitation detected 35 and maternal connective tissue diseases were excluded. Early postnatal cardiac pacing therapy planned autologous placental blood transfusion proposed for the treatment probable loss due pacemaker implantation. male infant delivered 38 vaginally 87 mL collected from undelivered placenta. The negative viral...
ObjectivesTo report our experience with balloon dilation of critical aortic valvar stenosis in neonates via the umbilical artery using currently available catheters.BackgroundThere is no agreement regarding optimal vascular approach for neonates.MethodsSince June 2005, we have attempted to obtain arterial access within first week after birth all stenosis. In patients whom was obtained, proceeded an attempt at dilation.ResultsWe were presented 5 birth, and obtained all, effective relief...
Abstract Recurrent myocarditis is rare with only few reports having been published for paediatric cases. Repeated use of extracorporeal membrane oxygenation also uncommon. In this paper we will present a very case 7-year old girl recurrent fulminant heart failure requiring cardiopulmonary resuscitation and mechanical circulatory support oxygenation. Both episodes were precipitated by viral upper respiratory tract infection, in both cases the cardiac function eventually completely recovered....
Abstract Aims: To evaluate the prevalence of congenital heart defects (CHDs) in live-born infants with Down syndrome (DS) and to investigate whether these CHDs might be detected during routine second trimester ultrasound screening performed at primary level. Methods: A retrospective analysis 66 cases DS infants. The underwent a detailed echocardiographic examination cardiac morphological characteristics function. Results: Thirty-six (54.5%) had associated CHDs. According apical four-chamber...
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Introduction: Patients with major or critical congenital heart disease (CHD) require surgical treatment interventional cardiac catheterization during the first year 28 days of life, respectively. Currently, detection CHD in Slovenia relies on prenatal ultrasound screening and physical examination newborn.Aims: 1) To determine incidence major/critical Slovenia; 2) to proportion infants late based existing clinical practice; 3) estimate improvement a nation-wide neonatal pulse oximetry...