Ali A. Al-Akhfash

Social impact on families of children with complex congenital heart disease.

BACKGROUND AND OBJECTIVES The care of children with complex congenital heart disease creates emotional and financial hardships for their families. We evaluated the social impact on families of patients with complex congenital heart disease (CHD) who underwent single ventricle repair. DESIGN AND SETTING Cross-sectional survey conducted at the pediatric cardiology outpatient department at Prince Sultan Cardiac Center-Qassim (PSCC-Q). PATIENTS AND METHODS All patients diagnosed and treated for complex CHD of single ventricle pathophysiology and seen in the pediatric cardiology at PSCC-Q were eligible for the study. Families of these patients completed a questionnaire conducted by one interviewer. The Impact on Family Scale (IFS) questionnaire of Stein and Riessman was instituted. Patients were divided into two groups according to the cardiac diagnosis and the requirement for medical or surgical management. The first group included patients with CHD who do not need any medical or surgical intervention, e.g. tiny VSD or small ASD. The second group included patients with complex CHD with single ventricle pathophysiology who underwent Glenn and/or Fontan procedures. The mean impact on family scores was compared among the different groups by two sample t test analysis. RESULTS Families of 41 children with CHD were interrogated during the study period from September 2011 to February 2012. Patients were divided into two groups. Group one (20 patients, 49%) with simple CHD and group two (21 patients, 51%) with complex CHD who are managed in the univentricular tract. Families of children who underwent single ventricle repair had significantly higher IFS (mean and standard deviation of 62 [7]) than families with minor heart disease (mean of 51 [4]) (P=.005). CONCLUSION Families of patients who underwent single ventricle repair have significant social impact because of their child illness. A supporting public group should be initiated and encouraged.

The Phenotype and Outcome of Infantile Cardiomyopathy Caused by a Homozygous ELAC2 Mutation

Objective: Cardiomyopathy (CMP) in children is a clinically and genetically heterogeneous group of disorders. Disease-associated mutations have been identified in more than 50 genes. Recently, mutations in the mitochondrial tRNA processing gene, ELAC2, were reported to be associated with the recessively inherited form of hypertrophic CMP (HCM). This study is aimed at describing the cardiac phenotype and outcome of ELAC2 mutation. Methods: We performed whole exome sequencing followed by targeted mutation screening to identify the genetic etiology of severe infantile-onset CMP in 64 consanguineous Saudi families. Results: A previously reported mutation (p.Phe154Leu) in ELAC2 gene was detected in 16 families. The index cases presented between 2 and 7 months of age with HCM in 13 infants and dilated CMP (DCM) in 3. Pericardial effusion was observed in 7 infants (44%). All infants died with a median age of death of 4 months. Almost 1/3 of them died during the initial presentation. Conclusion: Our study suggests screening the ELAC2 gene in severe infantile-onset HCM or DCM of unknown etiology, especially in the presence of pericardial effusion. Our work demonstrates a universally poor outcome of the (p.Phe154Leu) variant in ELAC2 gene; a correlation that helps in counseling parents and in planning appropriate medical intervention.

Treatment options for transposition of the great arteries with ventricular septal defect complicated by pulmonary vascular obstructive disease

The arterial switch operation is the procedure of choice for patients with isolated transposition of the great arteries or those with associated atrial and/or ventricular septal defects. After the development of pulmonary arterial hypertension, the surgical options for patients with a late presentation include either retraining the left ventricle by pulmonary artery banding followed by an arterial switch operation or palliative atrial or arterial switch, with or without medical management of pulmonary hypertension. We present a case with D-transposition of the great arteries with ventricular septal defects and irreversible pulmonary arterial hypertension who improved after a palliative atrial switch operation.

PDA Device Closure with and without Arterial Access

Background: PDA device closure can be performed without an arterial access. We are presenting our experience in closing the PDA with and without arterial access. Methods: From February 2012 till August 2014, all patients underwent transcatheter PDA closure were included. Detailed echocardiographic evaluation of the heart with hemodynamic doppler assessment was performed. Results: During the period, 45 patients underwent PDA device closure. All have venous access, 14 patients (31%) have additional arterial access. Since 2013 our protocol is to do PDA device closure without an arterial access except in selected patients when arterial access was considered necessary. Pre-procedure angiograms were performed in tow projections by the venous catheter positioned at the PDA descending aorta junction in 32 patients (71%), and by the arterial accessed catheter in 13 patients (29%). PDA was closed by ado1 device in 25 patients (56%), Oculotech PDA device in 18 patients (40%), and by coils in 2 patients (4.4%). Post PDA device angiograms were performed through the side port of the long delivery sheath. Detailed echocardiographic assessment was performed 2 hrs to 4 hrs after intervention as well as in the next day. No major immediate complications. One patient developed mild pericardial effusion 24 hrs after the procedure. Comparing the differences between those with and without arterial access revealed that the procedure time, the fluoroscopic time as well as the amount of the contrast dose used were less in those with no arterial access. Conclusion: PDA device closure without an arterial access can be performed safely and effectively by experienced interventionist. Patient selection and appropriate pre-intervention detailed echocardiography and procedure planning are essential for accomplishing device closure of PDA. The procedure is simplified and many patients can be discharged on the day of the procedure.

SHA 085. Heart defects in acyanotic pediatric patients referred with heart murmurs

Video presentation Objectives: Coronary artery bypass graing associated with Ross Procedure performed to 9 years old boy. Dr. Imad Naja; Dr. Nani Najm. Department of Cardiac Sciences, King Abdul-Aziz cardiac Centre, Riyadh, Saudi Arabia. This uncommon presentation of this disease at this age, leads u to share our experience. How to do it is the video presentation of CABG + ROSS performed to a 9 years old boy. Methods: 9 years old boy presented at emergency department with severe chest pain, subsequent Echocardiography showed thickened aortic valve with moderate stenosis. The angiogram showed moderate aortic valve stenosis and severely disease ascending aorta. Result: The surgery was uneventful; it was remarkable the atheromatosis at the level of the ascending aorta, successful outcome, the patient was discharged at the 7th post-operative day. doi:10.1016/j.jsha.2011.02.085 SHA 085. Heart defects in acyanotic pediatric patients referred with heart murmurs Dhafer O. Alqahtani, MD, Ali A. Alakhfash, MD, Omar R Tamimi, MD, Dhafer O. Alqahtani, MD, Ali A. Alakhfash, MD, Omar R Tamimi, MD KACC, Riyadh, Saudi Arabia E-mail address: qahtanidh@ngha.med.sa (D.O. Alqahtani) Objectives: The aim of the study is to explore the prevalence of congenital heart disease in pediatric patients referred to our center solely based on the detection of a heart murmur on routine physical examination. Study design: A retrospective database review was performed for all patients referred to KACC from July 2007 to March 2009 for cardiovascular evaluation because of a heart murmur detected during routine physical examination. This study included all pediatric patients from the neonatal period to 12 years of age who underwent echocardiography in our center. Patients with cyanosis, those with a significant difference in blood pressure between the upper and lower limbs, preterm neonates, patients with acquired heart disease, and syndromic or critically ill patients were excluded from this study. Results: Of the patients in the database, 245 met the inclusion criteria. The median age was 7 months (1 day to 12 years old), and the median weight was 7.85 kg (1.9–54 kg). A normal Abstract for SHA22 195