A Case of Osseocartilaginous Defects and Cardiovascular Anomalies: An Ambiguous Entity

A 24-year-old man presented with a history of palpitation and haemoptysis. He had a short stature, cardiac anomalies and physical deformities, including polydactyly, clubbing, cataracts and cyanosis. Echocardiography was performed, revealing both atrial and ventricular septal defects, along with severe pulmonary hypertension and Eisenmenger syndrome.

Self- and informant-reported executive function in young adults operated for atrial or ventricular septal defects in childhood

Background: Adults with simple congenital heart defects (CHD) have increased risk of neurodevelopmental challenges including executive dysfunction. It is unknown if the executive dysfunction is universal or if it is driven by dysfunction in specific clinical subscales and how it might affect psychosocial aspects of everyday life. Methods: The self-reported and informant-reported executive function of adults with an average age of 26 ± 5 (range 18–41) who underwent childhood surgery for atrial septal defects (n = 34) or ventricular septal defects (n = 32) and matched controls (n = 40) were evaluated using the Behavior Rating Inventory of Executive Functions - Adult version (BRIEF-A). Results: The CHD group reported having more executive dysfunction than controls in all BRIEF-A clinical subscales (p < 0.020) and more than their informants reported on their behalf (p < 0.006). The CHD group had received three times more special teaching (44% compared to 16%) and pedagogical psychological counselling (14% compared to none) and had a three times higher occurrence of psychiatric disorders than controls (33% compared to 11%). Lower educational levels and psychiatric disorders were associated with higher BRIEF-A scores (p < 0.03). Conclusions: Adults operated for septal defects in childhood report more challenges with all aspects of the executive functions than controls and more than relatives are aware of.

Transpercutaneous closure of perimembranous ventricular septal defects by symmatric occluder

Background: Ventricular septal defect ( VSD ) is the most frequently occurring congenital cardiac disease, accounts nearly 15-30% of all cases. Surgery is still the corrective therapy with high success and low complication but having some problems with: cardiopulmonary bypass, anesthesia, ICU, sternalitis, chest scar, AV block... Recently many progress in cardiac intervention applied to treat congenital heart disease especially percutaneous VSD closure. Currently patients with VSD have other choice to cure safely, effectively and less complication. Objectives: To evaluate 12 months rusults from transpercutaneous closure of perimembranous VSD by modified double – disk symmatric devices ( symmatric occluder). Methods: This is the descriptive clinical trial and follow-up. Result: 41 patients selected by echocardiography, 37 patients were closed successfully (90,2% success rate). No significant complication (AVB…) and 1 patient nonsignificant shunt is 2.7% after 12 month follow-up. Conclusions: Transpercutaneous closure of perimembranous VSD by symmatric occluder is effective and safe and more, longer follow-up.

Maternal serum-derived exosomal lactoferrin as a marker in detecting and predicting ventricular septal defect in fetuses

Among different types of congenital heart diseases, ventricular septal defect is the most frequently diagnosed type and is frequently missed in early prenatal screening programs. Herein, we explored the role of maternal serum-derived exosomes in detecting and predicting ventricular septal defect in fetuses in the early stage of pregnancy. A total of 104 pregnant women consisting of 52 ventricular septal defect cases and 52 healthy controls were recruited. TMT/iTRAQ proteomic analysis uncovered 15 maternal serum exosomal proteins, which showed differential expression between ventricular septal defect and control groups. Among these, four down-regulated proteins, lactoferrin, SBSN, DCD, and MBD3, were validated by Western blot. The protein lactoferrin was additionally verified by ELISA which was able to distinguish ventricular septal defects from controls with area under the ROC curve (AUC) 0.804 (p < 0.001). Our findings reveal that lactoferrin in maternal serum-derived exosomes may be a potential biomarker for non-invasive prenatal diagnosis of fetal ventricular septal defects.