Search results for "Congenital heart diseases"
showing 3 items of 3 documents
What is the impact of a novel MED12 variant on syndromic conotruncal heart defects? Analysis of case report on two male sibs
2020
Abstract Background Syndromic congenital heart disease accounts for 30% of cases and can be determined by genetic, environmental or multifactorial causes. In many cases the etiology remains uncertain. Many known genes are responsible for specific morphopathogenetic mechanisms during the development of the heart whose alteration can determine specific phenotypes of cardiac malformations. Case presentation We report on two cases of association of conotruncal heart defect with facial dysmorphisms in sibs. In both cases the malformations’ identification occurred by ultrasound in the prenatal period. It was followed by prenatal invasive diagnosis. The genetic analysis revealed no rearrangements …
Inter-society consensus document on treatment and prevention of bronchiolitis in newborns and infants
2014
Acute bronchiolitis is the leading cause of lower respiratory t ract infection and hospitalization in children less than 1y ear of age worldwide. It is usually a mild disease, but some children may develop severe symptoms, requiring hospital admission and ventilatory support in the ICU. Infants with pre-existing risk factors (prematurity, bronchopulmonary dysplasia, congenital heart diseases and immunodeficiency) may be predisposed to a severe form of the disease. Clinical diagnosis of bronchiolitis is manly based on medical history and physical examination (rhinorrhea, cough, crackles, wheezing and signs of respiratory distress). Etiological diagnosis, with antigen or genome detection to i…
Simplified first-trimester fetal cardiac screening (four chamber view and ventricular outflow tracts) in a low-risk population
2014
Objectives Our aim was to assess the accuracy of a simplified fetal cardiac study, inclusive of four-chamber view (4CV) and ventricular outflow tracts, performed during the 11–14 week screening by well-trained obstetricians to detect congenital heart diseases (CHDs). Methods A transabdominal ultrasound was performed on 4820 singleton pregnant women at 11–14 weeks to visualize the visceral site, the 4CV, and the outflow tracts. Neonatal outcomes were recorded 6 and 12 months after birth. Results Among the 4820 patients reviewed, 790 were excluded because of loss at prenatal or postnatal follow-up (649 cases), or inability to obtain adequate first-trimester sonographic cardiac evaluation (141…