Congenital Heart Disease: Genetic Aspect and Prenatal and Postnatal Counseling

Cardiac malformation present at birth is an important component of pediatric cardiovascular disease. The etiology of congenital heart disease is multifaceted including environmental, genetic and stochastic factors. With the advancement of cardiac diagnostic and therapeutic techniques in the past decade, with relatively low morbidity and mortality, has led to more and more children with congenital heart disease living to adulthood. Therefore the role of prenatal and postnatal genetic counseling becomes even more paramount as there is a higher likelihood of these patients living to adulthood and having families of their own. Prenatal counseling allows for the expectant parents to understand the full ramifications of continuing the pregnancy and possible events after birth. It is a multidisciplinary approach to help parents reach an informed decision on how to best to proceed with the pregnancy. After the birth of the child with congenital heart defects, the course is significantly dependent on the type of cardiac lesion. Postnatally, if the lesion is amenable to surgery, therapeutics intervention is offered. The postnatal counseling session includes the possibility of performing advanced genetic testing to help determine the hereditary potential of the cardiac defect in future offspring

Right superior vena cava draining in the left atrium associated with tetralogy of Fallot and pulmonary atresia

We report a case of an anomalous drainage of the right superior vena cava to the left atrium with intact atrial septum associated with Tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collateral arteries

Saudi Guidelines on the Diagnosis and Treatment of Pulmonary Hypertension: Pulmonary hypertension in children

Pulmonary hypertension (PH) is relatively uncommon in children. Pulmonary arterial hypertension (PAH) in pediatric comprises a wide spectrum of diseases, from a transient neonatal condition to a progressive disease associated with morbidity and mortality. Most common PAH in pediatric are idiopathic (IPAH) or PAH associated with congenital heart disease (PAH-CHD), while other associated conditions, such as connective tissue disease (CTD), are less common in pediatrics. Despite better understanding of PH and the availability of new medications during recent decades; the diagnosis, investigation and choice of therapy remain a challenge in children, as evidence-based recommendations depend mainly on adult studies. In this review, we provide a detailed discussion about the distinctive features of PAH in pediatric, mainly emphacysing on classification and diagnostic algorithm

Safety and efficacy of transcatheter closure of atrial septal defect type II under transthoracic echocardiographic guidance: A case control study

Background: Transcatheter closure of secundum atrial septal defect is routinely performed under general anesthesia and transesophageal echocardiography guidance. If patients have good echo windows, the procedure could be performed under transthoracic echo guidance. Aim of study: To evaluate safety and efficacy of the intervention using fluoroscopy and echo guidance. Methods: In a case control study design, 180 patients underwent atrial septal defect closure between January 2010 and December 2016. In 32 patients, the intervention was performed under fluoroscopy and transthoracic echo guidance. Our study group consisted of 22 out of 32 patients (<13 years old). For the other 10 patients, we could not find a matching pair. The data of the study group were compared with an age, weight, and height matched group (controls), who underwent the procedure under transesophageal echocardiography guidance. Results: The diameter of the atrial septal defect, septal length, and most of the rims were comparable. The superior rim and inferior rims were longer in the study group. The devices chosen for the cases were larger than the control group. Procedure time and fluoroscopy times were shorter in the study group. Success rate was comparable. On follow-up, both groups had almost no or minimal incidence of residual shunt. Conclusion: We conclude that transcatheter closure of atrial septal defect under fluoroscopy and transthoracic echo guidance is safe and successful in selected patients who have single central atrial septal defect with adequate septal lengths and adequate septal rims, with high incidence of complete occlusion rate. Keywords: 2D echocardiography, Atrial septal defect, Case control study, Transcatheter closure, Transesophageal echocardiograph