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  • Author: Amalia Făgărăşan x
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Amalia Făgărășan, Iolanda Muntean, Liliana Gozar, Sorina Pasc and Rodica Togănel

Abstract

Introduction: The aim of this study was to study the anatomical types of total anomalous pulmonary venous connection (TAPVC), the associated cardiac and extracardiac congenital malformations, clinical manifestations, and postoperative evolution.

Materials and methods: Twenty-four patients with a mean age of 125 days, admitted to the Clinic of Pediatric Cardiology III between January 1, 2009 and December 31, 2015 and diagnosed with TAPVC were included in the study. The patients were evaluated clinically, electrocardiographically and echocardiographically, both pre- and postoperatively. Postoperative evolution was monitored at 1, 3, 6, 12 and 24 months.

Results: The anatomical types of TAPVC were: supracardiac in 50% of cases (12 patients), cardiac in 37.5% (9 patients) and mixed type in 12.5% of cases (3 patients). The first clinical manifestation was cyanosis in 72.2% of cases. Surgical correction was performed at a mean age of 37 days in obstructive forms, and 254 days in non-obstructive forms. From the study lot, 8.4% of patients had associated extracardiac malformations (anorectal agenesis and Ivemark syndrome). Early postoperative complications included pulmonary hypertension crisis (60% of cases), supraventricular arrhythmias (35% of cases) and chylothorax (8.4% of cases). Late postoperative complications included: reintervention in 8% of patients with mixed type TAPVC.

Conclusions: The most frequently encountered type was supracardiac TAPVC, which had a favorable postoperative evolution. Mixed type TAPVC had the highest rate of reintervention.

Open access

George Andrei Crauciuc, Florin Tripon, Alina Bogliş, Amalia Făgărăşan and Claudia Bănescu

Abstract

Small supernumerary marker chromosome (sSMC) is a rare chromosomal abnormality and is detected in about 0.3% in cases with multiple congenital anomalies (MCA) and/or developmental delay. Different techniques for investigation of cases with MCA and/or developmental delay are available ranging from karyotyping to molecular cytogenetic technique and ultimately multiplex ligation dependent probe amplification (MLPA). Here we present a patient with multiple congenital anomalies for which classical cytogenetic technique was used as a first step in diagnosis and the results being confirmed by MLPA. The karyotype disclosed a sSMC considered to be a fragment of chromosome 22. The MLPA analysis using SALSA MLPA probemix P064-C2 Microdeletion Syndromes-1B confirmed the karyotype results, and according to the manufacturer’s recommendation we performed another confirmation analysis with MLPA probemix P311-B1 Congenital Heart Disease and MLPA probemix P250-B2 DiGeorge. We also suspected an Emanuel syndrome and performed another MLPA analysis with SALSA MLPA probemix P036-E3 Subtelomeres Mix 1 and probemix P070-B3 Subtelomeres Mix 2B for investigation of subtelomeric region that revealed a duplication of 11q25 region and the confirmation was performed using SALSA MLPA probemix P286-B2 Human Telomere-11.

In conclusion, we consider that MLPA is a valuable method for identification of sSMC in children with developmental delay and congenital anomalies. Genetic diagnosis using different molecular techniques, such as MLPA, for increasing accuracy in identification of chromosomal structural aberrations has an important role in clinical diagnosis and in genetic counselling and our case explain the importance of using a specific laboratory technique for each stage of diagnosis.

Open access

Rodica Togănel, Iolanda Muntean, Carmen Duicu, Amalia Făgărăşan, Liliana Gozar and Claudia Bănescu

Abstract

Background: Pulmonary arterial hypertension (PAH) is an incapacitating disease even in childhood, associated with very poor prognosis. The disease is characterised by endothelial dysfunction. Two of the key endothelial mediators involved in the PAH pathogenesis are nitric oxide (NO) and angiotensinogen (AGT). Purpose of the study: to evaluate the following gene polymorphisms: endothelial nitric oxide synthase (eNOS) G894T, eNOS 4b/4a, and angiotensinogen (AGT) M235T, as well as allele frequency and their association with PAH in children. Material and methods This study included 32 children with pulmonary arterial hypertension secondary to congenital heart disease, 46 children with congenital heart disease without pulmonary arterial hypertension referred to the Pediatric Cardiology Clinic Tg.Mures and 40 healthy controls. All patients underwent a complete physical with NYHA class evaluation, echocardiographic exam and eNOS (G894T, 4b/4a) as well as AGT M235T polymorphisms determination. Results The frequency of eNOS 894T allele (p < 0.0001) was significantly higher in patients with pulmonary arterial hypertension. Conclusions Our results advocate that there is a correlation between eNOS 894T allele and pulmonary arterial hypertension in children