Interrupted aortic arch – case report

Interrupted aortic arch is a rare ductal-dependent congenital heart malformation, accounting for 1.5% of all MCC, 2 in 100,000 cases of live newborns are diagnosed with IAA. We present the case of a 3-month-old infant who came to our clinic on the recommendation of the family doctor. On clinical examination, he presented an affected general state, peri oronasal cyanosis during moments of agitation, grade III/6 systolic murmur present throughout the precordial area, heart rate = 160 beats/min, respiratory rate = 45 breaths/min, SaO2 = 86 – 91% in atmospheric air, liver 4 cm below the costal rim. Echocardiography revealed a complete ductal-dependent congenital heart malformation, interrupted aortic arch, persistence of ductus arteriosus, wide muscular ventricular septal defect, hypoplasia of the ascending aorta. The angioCT examination confirmed the diagnoses from the echocardiography. During the genetic examination, the suspicion of DiGeorge syndrome was raised, which is why MLPA for microdeletions was required. The first therapeutic act performed was represented by maintaining the patency of the arterial channel. The patient was transferred to a clinic in Italy for the surgical intervention

AFECTAREA CARDIOVASCULARĂ ÎN BOALA POMPE

Bolile lizozomale reprezintă un grup divers de boli monogenice care sunt definite prin defecte în funcţionarea lizozomilor. Afectarea cordului face parte din fenotipul clinic al bolilor lizozomale. Boala Pompe este marcată de absenţa/deficitul enzimei lizozomale alfa-glucozidază şi prin vârsta diferită de debut clinic. Forma infantilă este definită de scăderea forţei musculare şi hipertrofie cardiacă progresivă, urmate de insuficienţă cardiacă progresivă. Boala Pompe necesită intervenţie terapeutică imediată pentru a creşte potenţialul beneficiu al terapiei enzimatice, cu îmbunătăţirea secundară a fenotipului. Articolul prezintă semnele clinice şi cardiace sugestive pentru boala Pompe

CLINIC AND THERAPEUTIC ASPECTS IN DUCTUS-DEPENDENT CONGENITAL HEART DEFECTS – PART I

Congenital heart defects with ductus-dependent circulation have a complex cardiovascular physiology. After birth, the condition of these children is critical, they are asymptomatic and their pulmonary vascular resistance decreases leading to progressive hemodynamic deterioration. Early identifi cation of these defects and the start of appropriate therapy allow to maintain the cardiovascular balance

Pediatric radiofrequency catheter ablation for supraventricular and ventricular tachyarrhythmias: a single center retrospective analysis

Cardiovascular Diseases Institute “Prof. Dr. George I. M. Georgescu”, Iasi, Romania, Pediatric Cardiology Clinic, “Saint Maria” University Hospital, Iasi, RomaniaIntroduction. In recent years radiofrequency catheter ablation (RFCA) has become a standard of care treatment for children and young adults with supraventricular and ventricular tachyarrhythmias. The aim of this study is to evaluate the short-term follow-up of RFCA for ventricular and supraventricular tachyarrhythmias in the pediatric age group. Materials and methods. A total of 63 pediatric patients (mean age at the time of the procedure 12.9±6.7 years, weight 47.98±13.2 Kg), were referred for electrophysiologic study (EPS) and RFCA between April 2004 and April 2018. The electrophysiologic study was performed in a tertiary center using a modified simple technique with the right femoral approach and 2 catheters 5 and 6 French one for stimulation and one for mapping. Referral for the RFCA procedure was done according to the recent guidelines: Class I: WPW syndrome and recurrent and/or symptomatic SVT and age >5 years; WPW syndrome and palpitations with inducible sustained SVT during EPS, age >5 years; Class IIb: WPW syndrome and recurrent and/or symptomatic SVT and age <5 years. Results. A total of 68 EPS procedures were performed in 63 patients. Referral for WPW syndrome in 22 patients (34.9%), atrioventricular node reentry in 20 patients (31.7%), concealed accessory pathways in 8 patients (12.7%), atrial tachycardia in 3 patients (4.8%), atrial flutter in 1 patient (1.6%), permanent ventricular tachycardia was the reason RF ablation in 1 patient (1.6%), premature ventricular beats in 2 patients (3.2%). RFCA was performed under general sedation in 5 patients (7.9%), the rest of the procedures were under exclusively local anesthesia. RFCA success rate was 97.1%, with an arrhythmia recurrence rate of 5.9%. No complications occurred during procedures. In 1 patient (1.6%) with WPW syndrome the mechanical induced atrial fibrillation with hemodynamical compromise needed electrical shock therapy for rhythm control. Mean duration of RFCA was 103.7 min, with a mean radiation exposure time of about 10.5 min and a mean dose of about 1582 μGy/m². A three-dimensional mapping system was needed in 3 RFCA procedures. Conclusion. Radiofrequency catheter ablation is a safe and highly successful option of treatment for the supraventricular and ventricular tachyarrhythmias in pediatric patients. The use of the modified simple technique reduces the risk for major complications

Optimal Nutrition Parameters for Neonates and Infants with Congenital Heart Disease

Congenital heart defects are known causes of malnutrition. Optimal nutritional management is paramount in improving short and long-term prognosis for neonates and infants with congenital heart malformations, as current strategies target preoperative and postoperative feeding requirements. Standardized enteral and/or parenteral feeding protocols, depending on the systemic implications of the cardiac defect, include the following common practices: diagnosing and managing feeding intolerance, choosing the right formula, and implementing a monitoring protocol. The latest guidelines from the American Society for Parenteral and Enteral Nutrition and the European Society of Paediatric and Neonatal Intensive Care, as well as a significant number of recent scientific studies, offer precious indications for establishing the best feeding parameters for neonates and infants with heart defects

CARDIOVASCULAR INVOLVEMENT IN POMPE DISEASE

Lysosomal storage diseases are a diverse group of monogenic disorders which are as defined by defects in lysosomal function. The heart is part of the clinical phenotype of lysosomal storage diseases. Pompe disease is marked by absence/deficiency of the lysosomal enzyme alpha-glucosidase and by different ages of onset. The infantile form is defined by muscle weakness and progressive cardiac hypertrophy, followed by progressive cardiac failure. Pompe disease requires immediate intervention to maximize the potential benefit from enzymatic therapy, with improvement of the phenotype. This article presents clinical and cardiac findings suggestive for Pompe’s disease

PREEXISTING MATERNAL DISORDERS – RISK FACTORS FOR NEWBORN CONGENITAL ANOMALIES

Congenital anomalies may be determined by genetic or environmental factors or a combination of the two factors. Maternal disease can affect fetal development through specific effects of metabolic products or maternal antibody transfer. Identifying mothers and pregnancies at risk as well as providing a teratogenic risk discussion and appropriate documentation is aimed at reducing potential teratogenic effects of maternal diseases

OCCUPATIONAL SOLVENT EXPOSURE ASSOCIATED WITH DEVELOPMENTAL TOXICITY

Organic solvent is a broad term that applies to many classes of chemicals. The solvent (benzene, toluene etc.) aspects of occupational exposure are reviewed via the examination of the use, occurrence, and disposition as well as population’s potential of risk. The general public can be exposed to solvent in ambient air as a result of its occurrence in paint process. Solvents are primarily irritants to the skin and mucous membranes and have narcotic properties at high concentrations. Published epidemiological data identified various types of birth defects in certain occupations

CLINICAL AND EPIDEMIOLOGICAL ASPECTS IN COARCTATION OF THE AORTA IN CHILDREN

Coarctation of the aorta is the fifth as frequency among congenital heart defects, representing 6-8% of all of them. The incidence of coarctation of the aorta is 1: 2,500 births. It is a more commonly encountered pathology in males with a ratio between male and female sex of 2: 1 Patients have different clinical aspects depending on the age at which they are diagnosed. Newborns are most commonly found with heart failure and cardiogenic shock, and large children and adolescents address the pediatrician due to symptoms of headache, epistaxis, lower limb pain, fatigue. To diagnose coarctation of the aorta it is important to measure blood pressure in the upper and lower limbs, and to find a difference of 20 mmHg between them. Pulse is weaker or even absent in the femoral artery whereas in the brachial artery and radial pulse is strong