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Background: Childhood-onset cardiomyopathy is a heterogeneous group of conditions the cause of which is largely unknown. The influence of consanguinity on the genetics of cardiomyopathy has not been addressed at a large scale. Methods: To unravel the genetic cause of childhood-onset cardiomyopathy in a consanguineous population, a categorized approach was adopted. Cases with childhood-onset cardiomyopathy were consecutively recruited. Based on the likelihood of founder mutation and on the clinical diagnosis, genetic test was categorized to either (1) targeted genetic test with targeted mutation test, single-gene test, or multigene panel for Noonan syndrome, or (2) untargeted genetic test with whole-exome sequencing or whole-genome sequencing. Several bioinformatics tools were used to filter the variants. Results: Two-hundred five unrelated probands with various forms of cardiomyopathy were evaluated. The median age of presentation was 10 months. In 30.2% (n=62), targeted genetic test had a yield of 82.7% compared with 33.6% for whole-exome sequencing/whole-genome sequencing (n=143) giving an overall yield of 53.7%. Strikingly, 96.4% of the variants were homozygous, 9% of which were found in 4 dominant genes. Homozygous variants were also detected in 7 novel candidates ( ACACB, AASDH, CASZ1, FLII, RHBDF1, RPL3L, ULK1 ). Conclusions: Our work demonstrates the impact of consanguinity on the genetics of childhood-onset cardiomyopathy, the value of adopting a categorized population-sensitive genetic approach, and the opportunity of uncovering novel genes. Our data suggest that if a founder mutation is not suspected, adopting whole-exome sequencing/whole-genome sequencing as a first-line test should be considered.

BackgroundCardiac air bullet injuries are rare but can be associated with significant morbidity and mortality.Case presentationWe are presenting a young male child who sustained an accidental injury to the chest by an air rifle. Bullet entered the right ventricle from the anterior part of the chest and was identified in the RV side of the interventricular septum by echocardiography and chest CT scan. There was mild pericardial effusion but no valvular injury. The bullet was removed in the cath lab, and the patient was discharged home on the second day.ConclusionsIt is reasonable to try foreign body removal in the cath lab, for certain cases, and avoid cardiac surgery.

Objectives Transcatheter closure is the treatment of choice for most patent ductus arteriosus (PDA) in infants, children, and adults. However, there is a controversy regarding transcatheter closure of clinically silent PDAs. Some authors favor device closure to eliminate the lifelong risk of infective endarteritis while others recommend avoiding PDA closure in such patients. The study describes our experience of closing the silent PDAs using the Amplatzer duct occluder II-additional size (ADO II-AS) (St. Jude Medical Corp, St. Paul, MN). Materials and methods From April 2018 through March 2021, 52 consecutive pediatric patients aged 18 years and less with clinically silent PDA who had transcatheter closure at our center were enrolled. Patients were excluded if they had clinically detected PDAs; had surgical ligation of PDA with no residual shunt; had left heart dilatation on echocardiography; or moderate-sized PDAs closed with ADO II-AS. In addition, patients with an innocent murmur or murmur due to an associated lesion were included. This study was retrospective, and all of the 52 patients underwent PDA device closure using ADO II-AS. Results Fifty-two consecutive patients were enrolled with a median age of 17 months, range (97-2.5) 94.5 months. Mean weight was 11.29 kilogram, range (24.8-3.5) 21.3 kilogram, and mean follow-up was 13.5 months, range (29-0) 29 months. Thirty-one (59.6%) were females, and 21 (40.4%) were males. The mean procedure time was 30.6 min, range (60-10) 50 min, and mean fluoroscopic time was 5.5 min, range (28-1.7) 26.3 min. The mean volume of contrast given was 9.1 milliliter, range (30-4) 26 milliliter. Forty-five (45; 88.2%) patients had immediate closure of PDA. No patients had anesthetic or vascular complications; however, two patients had procedural complications. Device placement was unsuccessful in one patient with Downs syndrome. The mean follow-up for our patients was 13.5 months, range (29-0) 29 months; the patients were asymptomatic at the follow-up, and none of the patients had any residual leak. None of the patients showed coarctation or left pulmonary artery stenosis at the latest follow-up. Conclusion The usefulness of catheter-based therapy for silent PDA is less well-established by current evidence. Further studies are needed to justify the intervention solely based on the premise that the silent duct is a substrate for infective endarteritis; however, our reason to close silent PDA was to do so primarily because of social reasons. This study found that device closure of silent PDA is safe and effective using an ADO II-AS device with minimal risk of embolization and a low residual shunt rate. Coils have been used to close small PDAs, however, with higher rates of embolization and device malpositioning. We believe ADO-II AS offers an advantage of safety and efficacy over coils. In addition, the study highlights the advantage of using an ADO II-AS device, which can be delivered via a four French delivery system with no arterial complications.

Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is one type under group 1 PH. Undiagnosed or delayed diagnosis of significant CHD might lead to significant PAH and at the end might lead to Eisenmenger syndrome. We could expect the degree of PAH in patients with CHD by proper clinical assessment as well as by the basic assessment tools including the chest x-ray (CXR), ECG, and transthoracic echocardiography (TTE). We are presenting a three and half years old child with a delayed/missed diagnosis of large patent ductus arteries (PDA) who present with significant PAH. Clinical evaluation, CXR, ECG, TTE, as well as cardiac catheterization data are presented, with a review of the current guidelines regarding the management of pediatric patients with PAH-CHD.

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.

Aortopulmonary window is a rare congenital heart lesion. It might be associated with other CHDs, as well as with anomalous origin of the coronary arteries. Anomalous origin of the right coronary artery from the pulmonary artery (ARCAPA) is the most commonly described coronary artery anomaly in association with aortopulmonary window. We are describing a premature neonate who was diagnosed to have aortopulmonary window and ARCAPA immediately after birth, and had a successful operation at the age of 4 months. This report highlights the importance of very careful assessment of the coronary arteries in patients with aortopulmonary window.

Introduction Pediatric cardiac catheterization interventions become an established way of care for selected patients with congenital heart diseases. Cardiac catheterization for neonates and small infants can be challenging. The indications for diagnostic cardiac catheterization have decreased with the advent of advanced non-invasive imaging modalities. Patients and method Between June 2012 and July 2017 patients less than three months who had cardiac catheterization in two centers were reviewed. Results During the study period, 174 patients underwent interventional cardiac catheterization,83.3% of them had CHD with two-ventricle circulation and 29 patients (16.7%) had single ventricle pathophysiology. Procedures include diagnostic cath, BAS, balloon pulmonary and aortic valvuloplasty, coarctation angioplasty, and stenting procedures. The vascular access depends upon the type of procedure. All except one had general anesthesia. ICU admission was required on 106 patients (62%). Patients were divided according to the type of cardiac lesion (single versus biventricular pathology) as well as according to the type of intervention (stenting and non-stenting procedures). Comparing these groups revealed that: stent procedures and procedures for patients with single ventricle pathologies were performed at an earlier age, with more contrast, fluoro and procedure time than for non-stent procedures and procedures for patients with biventricular pathologies. Complications include transient arrhythmias in most patients, perforation of the RVOT in one and lower limb hypoperfusion in 12 patients. ICU complications include low cardiac output symptoms (LCOS) in 10 (7%), and sepsis in 8. No intra-procedure mortality. The overall survival was 94%. Ten patients died, with one early and 9 late mortality. 60% of the dead patients had PDA stenting. Reintervention varies according to the patient's diagnosis. Conclusion Cardiac catheterization intervention an important modality in the management of neonates and infants with critical CHD. Well planned procedures and team expertise are essential. Stenting procedures and procedures for patients with single ventricles carries higher morbidity and mortality.

Although infective endocarditis is an uncommon condition, it can be fatal if not treated. The new era of infective endocarditis in children with structurally normal heart has become apparent entity. Duke criteria has been established for a long time and gives clear guidelines for diagnosis; however, surgical indication in pediatric population needs to be tailored to individual patients. Keywords: Endocarditis, Infective, Pediatric, Surgical management

Introduction The goal of this study is to describe (1) different types of isolation of arch branches and (2) to show the importance of careful evaluation of arch morphology using imaging tools such as echocardiography, cardiac computerized tomography (CT) and cardiac catheterization. Methodology Following IRB approval from KAIMRC with number RC17/298/R, we reviewed retrospectively a consecutive case series of pediatric patients who were diagnosed to have isolated innominate or subclavian arteries at King Abdul-Aziz and Prince Sultan Cardiac Centers by use of imaging techniques mentioned above. Data was collected, including demographic information, cardiac diagnosis, diagnostic modalities, and surgical interventions. Results There were a total of 11 patients who were diagnosed to have isolated arch branches. 9 of these patients (82%) had a right aortic arch (RAA) while 3 patients (27%) were found to have a left-sided aortic arch (LAA). Three patients from those with documented RAA had isolated left innominate artery with retrograde blood supply from the circle of Willis through the left vertebral artery and the isolated artery was connected to the pulmonary artery by patent ductus arteriousus or its remnant ligament; the remaining six patients with RAA presented with an isolated left subclavian artery. 3 patients were found to have LAA arch with an isolated left subclavian artery. Of the 11 patients included in this study, one patient had normal intracardiac anatomy, 3 patients a VSD, 2 patients an interrupted aortic arch type B, 2 patients had tetralogy of Fallot, one patient left isomerism, another one hypoplastic left heart syndrome, and the last patient presented with crossed PAs and LPA stenosis. Conclusion Isolation of arch branches is a rare condition, but if it is present a careful initial assessment of arch morphology during echocardiography examination is mandatory; however, the utilization of cardiac CT with expert people reading the results will improve the detecting rate of such a lesion significantly.

Background Congenital long QT syndrome (LQTS) is an inherited, potentially fatal arrhythmogenic disorder. At least 16 genes have been implicated in LQTS; the yield of genetic analysis of 3 genes ( KCNQ1 , KCNH2 , and SCN5A ) is about 70%, with KCNQ1 mutations accounting for ∼50% of positive cases. LQTS is mostly inherited in an autosomal dominant pattern. Systemic analysis of LQTS has not been previously conducted in a population with a high degree of consanguinity. Objectives To describe the clinical and molecular profiles of LQTS in the highly consanguineous Saudi population. Methods Fifty-six Saudi families with LQTS were consecutively recruited and evaluated. Sequencing of KCNQ1 , KCNH2 , and SCN5A genes was conducted on all probands, followed by screening of family relatives. Results Genetic analysis was positive in 32 (57.2%) families, with mutations in KCNQ1 identified in 28 families (50%). Surprisingly, 17 (53.1%) probands were segregating homozygous mutations. Family screening identified 123 individuals with mutations; 89 (72.4%) were heterozygous, 23 (18.7%) were homozygous, and 11 (8.9%) were compound heterozygous. Compared to heterozygous, the phenotype was more severe in homozygous individuals, with cardiac symptoms in 78.3% (vs 12.4%), family history of sudden death in 64.7% (vs 44.4%), and prolonged QT interval in 100% (vs 43.8%). Congenital deafness was found in 11 (47.8%) homozygous probands. Conclusion Our study provides insight into the clinical and molecular profiles of LQTS in a consanguineous population. It underscores the importance of preemptive management in homozygous patients with LQTS and the value of clinical and molecular screening of at-risk relatives.

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.

Transcatheter closure of secondum atrial septal defect (ASD) is an alternative option to open heart surgery with good short and long-term outcomes. For this purpose, the Amplatzer septal occluder (ASO) device is widely used. Arrhythmias are known complications of ASD device closure including atrial ectopy and heart block.We report a seven-year-old female patient who developed second degree atrioventricular block (AVB) within few hours after ASD device closure using ASO device. At the seventh post-procedure day; while under close observation; patient regained sinus rhythm which was maintained thereafter. A 3-day course of prednisolone was given.

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.

Objective To investigate the incidence, timing indications and outcome of tracheotomy in children who underwent cardiac surgeries. Methods All pediatric cardiac patients (under 14years of age) who underwent cardiac surgeries and required tracheotomy from November 2000 to November 2010 were reviewed. The data were collected and reviewed retrospectively. Results Sixteen children underwent tracheotomy after cardiac surgery. Fifteen of these cases had surgery for congenital heart disease, and one had surgery for an acquired rheumatic mitral valve disease. The mean±SEMs of the durations of ventilation before and after tracheotomy were 60.4±9.8 and 14.5±4.79days respectively ( P value 0.0002). The means±SEM of the lengths of ICU stay before and after tracheotomy were 63.31±10.15 and 22±5.4days respectively ( P value 0.0012). After the tracheotomy 12/16 patients (75%) were weaned from their ventilators and 10/16 were discharged from the PCICU. Six patients were discharged from the hospital and 3 were successfully decannulated. The overall survival rate was 9/16 (56%). Conclusion Tracheostomy shortens the duration of mechanical ventilation and facilitates discharge from the ICU. The mortality of tracheotomy patients is still significant but is mainly related to the primary cardiac disease.

Worldwide, congenital heart defects (CHD) are the leading cause of infant deaths owing to congenital anomalies. Knowing the actual incidence of severe CHD is important for defining the requirement for resources and the burden of disease within the total population. Objectives. The aim of the study is to estimate the incidence of severe CHD at the province of Al-Qassim as a reflection of that in the Kingdom of Saudi Arabia. Study Design. A retrospective database review of all cases diagnosed to have severe CHD at Prince Sultan Cardiac Center-Qassim during a 3-year period from January 2008 to December 2010. Results. During the study period, 316 patients were diagnosed to have severe CHD. During the 3-year study period, the total live birth at the province of Al-Qassim was 58 908. The incidence of severe CHD is 5.4/1000 live birth/year. Sixty-five percent of cases were diagnosed at less than 2 months of age, with a median age at diagnosis of 45 days (range of 1 day to 1 year). Ventricular septal defect was the most common lesion diagnosed (22.5%). Collectively, prostaglandin-dependent lesions constitute 38% of cases. Fifteen percent of patients were proved to have a syndrome. The most common syndrome was Down syndrome. Conclusion. Severe CHD is a major health problem at the Kingdom of Saudi Arabia and worldwide. The incidence of severe CHD likely to require intervention in infancy, in the province of Al-Qassim, Saudi Arabia, is 5.4 per 1000 live births.

Persistent fifth aortic arch is a rare congenital anomaly that can be discovered incidentally or at postmortem exam. It can be associated with major congenital heart malformations involving the systemic or the pulmonary circuits. It usually has no clinical significance but can be either, beneficial as in systemic outflow tract obstructions or cause hemodynamic compromise when associated with a significant left to right shunt. We report an infant with persistent fifth aortic arch associated with Shone’s complex diagnosed accurately by transthoracic echocardiography and confirmed by cardiac catheterization and computed tomography.

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.

To evaluate the effectiveness of implementation of the pediatric Canadian Triage and Acuity Scale (Ped-CTAS) for children visiting the pediatric emergency department (ED).This cross-sectional study evaluated all children presented to the ED during a 9-day period in March 2010. The Ped-CTAS triage system was used. Triage performance was analyzed on the basis of quality indicators, rate of admissions, rate of referral, observation duration, and relationship between investigations requested and CTAS level.During the study period, 3,337 patients were triaged. Overall, 4 patients (0.1%) were in triage level 1, 356 (12%) were level 2, 655 (22%) were level 3, 1810 (60%) were level 4, and 189 (6%) were level 5. The left without being seen rate was 6.25%. A triage duration of 5 minutes or less was carried out for 97% of cases. Within the CTAS time objectives, the waiting time to nurse and physician was 100% for cases triaged to level 1. The proportion of cases who needed observation was 100% for level 1, 85% for level 2, 53% for level 3, 33% for level 4, and 26% for level 5. The proportion of patients admitted to the hospital was 100% for level 1. The lower the level (more acute and emergent the condition) the more use of the laboratory and radiological investigations.The pediatric CTAS triage system is a good tool for categorizing pediatric patients attending the ED. Stratified by triage level, triage indicators can be used as indicators of ED performance.

To explore and find out the level of awareness regarding folic acid's (FAs) importance, current use, and timing of administration among pregnant Saudi females.This is a cross-sectional study conducted randomly among women aged 18-45 years old, attending the Antenatal and Gynecology Clinics at the Maternity and Children's Hospital, Al-Qassim, Kingdom of Saudi Arabia from January to November 2012. A total of 1250 subjects were approached, and 1000 women expressed their verbal consent to participate. The questionnaire consisted of 17 items, and results were analyzed using univariate and multivariate analysis.A total of 88.4% of women were aware of FA. However, only 4.4% of them took FA before pregnancy. Compared to highly educated women (20.4%), only 5% of illiterate women use FA during the first trimester of their pregnancy. Univariate and multivariate analysis showed that educational level had a significant association with FA awareness and use (p=0.001; odds ratio: 0.000; 95% confidence interval: 1.001 to 1.080). Most women recall hearing of FA from their doctors. Only 48 women reported a history of a previous child with congenital anomalies, and 4 of them (8.3%) of them used FA before pregnancy.We found that only 4.4% of the studied women use FA in their preconceptional period. The higher the educational level, the more the knowledge, and frequent use of FA. Poor level of awareness among lower educated woman requires medical authorities to broadcast the importance of FA, and there may be a need to fortify food with FA.

Background: Coarctation of the aorta is a very common congenital heart malformation. It is frequently associated with other abnormalities. Echocardiography is the diagnostic modality for congenital heart disease. The carotid-subclavian artery index and the isthmus/descending aorta index were proposed for establishing the diagnosis of coarctation of the aorta. Objectives: The objectives were to evaluate such indexes and to look for other echocardiographic predictors of coarctation of the aorta. Method Echocardiography was reviewed for infants with coarctation of the aorta, as well as a control group, using the Echo PAC Dimension. Standard measurements were obtained from different sites of the aortic arch. Results: A total of 31 infants 3 months or less with coarctation of the aorta and 50 infants with no coarctation of the aorta were reviewed. Abnormal aortic valve was present in 65% of those with coarctation of the aorta. The diameters of the proximal and the distal transverse aortic arch were smaller in the coarctation of the aorta group. The distance between the aortic arch branches was longer in the coarctation of the aorta group. Apart from the ratio between distance 2 and the ascending aorta, other ratios/indexes were smaller in the coarctation of the aorta group than in the control group. Conclusion: The presence of abnormal aortic valve, a carotid subclavian index

Chest pain is a common paediatric complaint. Chest pain due to a cardiac condition is rare in children and adolescents, with a prevalence of less than 6%. History and physical exam may be sufficient for identifying the majority of significant aetiologies. Objectives To review the different causes of chest pain of patients referred to PSCC-Q Method Rertrospective analysis of our database. Follow up of patients was done with telephone call of all patients family to ask about the child and the chest pain status. Results During the period from January 2011 till December 2012, 28 patients were referred because of chest pain to the cardiac clinic. 18 (64%) were females and 10 (36%) were males. Palpitations were present in 7 of them (25%). Four patients were having noncardiac symptoms in the form of arthralgia in two and recurrent tonsillitis in two. Tow patients were having a positive family history of cardiac problems in the form of mitral valve prolapse in one and dilated cardiomyopathy in the other. General examination and Vital signs were normal in all of them. The mean ± SD of the heart rate, blood pressure and saturation were 99 ± 15 bpm, 102/63 ± 11/9 mm Hg, and 97 ± 1% respectively. The mean ± SD of the weight and height were 30 ± 16 kg and 131 ± 10 cm, respectively. Cardiovascular examination was normal in all of them. Innocent systolic murmur was present in 5 of them (18%). ECG was also normal in all of them. One patient had mild prolongation of the PR interval. Those with history of palpitations had Holter monitoring for 24 h which were normal in all of them. Chest pain was recurrent in 6 patients (22%) and was related to exertion in only one. On Followup all patients were alive and asymptomatic. Conclusion Chest pain in children usually is benign. History and physical exam usually are sufficient. Laboratory testing should be guided by History and physical exam.

Background Echocardiography is the main diagnostic modality of coarctation of the aorta especially in infants less than 3 months. Sometimes it is difficult to diagnose coarctation of the aorta either because of poor echo window or because of the presence of a large PDA. Failure or delay in the diagnosis of coarctation will lead to morbidity as well as mortality. Objectives The objectives of our study were to look for echocardiographic predictors of coarctation of the aorta. Methods During the period from September 2010 to July 2011 echocardiographic measurements were performed for 67 normal infants referred for echocardiography. This was compared with 37 patients with proved coarctation either by surgery or cath. Echocardiographic measurements performed in both groups include aortic annulus, ascending aorta diameter, proximal transverse arch diameter, distal transverse arch diameter, aortic isthmus diameter, distance between aortic arch branches. Aortic valve anatomy , associated findings as well as surgical and cath diagnosis were reviewed. The ratio between the transverse arch and ascending aorta as well as between transverse arch and the distance between aortic arch branches were calculated. We compared both groups using SPSS statistical software. Measurements were done online as well as offline. Results During the study period 67 normal infants and 37 infants with coarctation were reviewed. The age group were from one day to one year and the mean weight were 4.48 ± 1.67 and 3.8 ± 2.19 kg for the normal and abnormal groups, respectively. There were no statistical difference between the two groups regarding the age weight as well as the gender. There were statistical difference in the echocardiographic measurements between the two groups regarding the transverse arch diameter with a smaller diameter in the CoA group (3.89 ± 1.17 vs 5.8 ± 1.05 mm, P value 0.0001). The ratio between the transverse arch and the ascending aorta was smaller in patients with CoA (0.55 ± 0.16 vs 0.73 ± 0.16, P value 0.0001). The distance between the left common carotid and the left subclavian arteries was longer in patients with CoA compared to those with normal arch (4.76 ± 2.37 mm vs 2.85 ± 1.59 mm, P value 0.0012). The ratio between the distance between the left common carotid and the left subclavian arteries to that of the transverse aortic arch diameter was higher in patients with Co (1.3311 ± 0.71 vs 0.54 ± 0.29, P value 0.0001). Bicuspid aortic valve was found in 57% of patients with CoA compared to only 6.5% of patients without coarctation (P value 0.0001). Conclusions Echocardiographic predictors of coarctation of the aorta include the presence of bicuspid aortic valve, hypoplasia of the transverse arch, smaller ratio between the transverse arch and the ascending aorta and high ratio between the distance between aortic arch branches and transverse aortic arch.

Worldwide, congenital heart defects (CHD) are the leading cause of infant deaths owing to congenital anomalies. Knowing the actual incidence of severe CHD is important for defining the requirement for resources and the burden of disease within the total population. The aim of the study is to estimate the incidence of severe CHD at the province of Al-Qassim as a reflection of that in the Kingdom of Saudi Arabia. A retrospective database review of all cases diagnosed to have severe CHD at Prince Sultan Cardiac Center-Qassim during a 3-year period from January 2008 to December 2010. During the study period, 316 patients were diagnosed to have severe CHD. During the 3-year study period, the total live birth at the province of Al-Qassim was 58,908. The incidence of severe CHD is 5.4/1000 live birth/year. Sixty-five percent of cases were diagnosed at less than 2 months of age, with a median age at diagnosis of 45 days (range of 1 day to 1 year). Ventricular septal defect was the most common lesion diagnosed (22.5%). Collectively, prostaglandin-dependent lesions constitute 38% of cases. Fifteen percent of patients were proved to have a syndrome. The most common syndrome was Down syndrome.. Severe CHD is a major health problem at the Kingdom of Saudi Arabia and worldwide. The incidence of severe CHD likely to require intervention in infancy, in the province of Al-Qassim, Saudi Arabia, is 5.4 per 1000 live births.

Objectives: Describe the short and midterm outcome and to determine the predictors of reintervention in neonates with critical pulmonary stenosis (PS) or pulmonary atresia with intact ventricular septum (PA/IVS). Background: The transcatheter intervention for critical PS and PA/IVS resulted in improvement in the patient's survival and the quality of life. The procedure is not free of complications and there is still a significant rate of reintervention. Method: All neonates with critical PS or PA/IVS who underwent interventional cardiac catheterization between November 2004 and January 2009 were reviewed retrospectively. We performed a comparison between those who required reintervention and those who did not, to identify the predictors of reintervention. Results: Forty-three neonates were included, 23 (53.5%) had critical PS and 20 (46.5%) had PA/IVS. Twenty-six patients (60%) were males, the mean age was 11 ± 8 days, and the mean weight was 3.2 ± 0.6 kg. Two patients died (4.6%). The mean follow-up period was 19 ± 13 months for 42 patients. Fifteen patients (36%) required reintervention, 11 of them (73%) had PA/IVS, and 4 (27%) had critical PS. Reintervention was more in patients with PA/IVS than those with critical PS (P = 0.003). Other predictors for reintervention included hospital stay ≥ 7.5 days (P = 0.001) and tricuspid valve regurgitation peak gradient in day one post first intervention (TR1) ≥ 43 mm Hg (P = 0.03). Conclusion: Interventional cardiac catheterization shows favorable outcome for patients with critical PS and PA/IVS. Predictors for reintervention included the diagnosis of PA/IVS, hospital stay ≥7.5 days after first intervention and TR1 gradient ≥ 43 mm Hg. © 2011 Wiley Periodicals, Inc.

We report a unique case of infantile form of Scimitar syndrome with a patent ductus arteriosus and pulmonary hypertension. The PDA was closed percutaneously using the new Amplatzer Ductal Occluder device type II.

To review the experience with Norwood and Damus-Kaye-Stansel (DKS) staged repair in the management of hypoplastic left heart syndrome (HLHS), or functional single ventricle (FSV) with systemic outflow tract obstruction (SOTO).A retrospective study was conducted from a single center from January 2001 to September 2007 at the Cardiac Sciences Department, King Abdulaziz Cardiac Center, National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia. The cardiac departmental database was reviewed, together with the echocardiographic findings. Demographic data representing age and weight at operation, gender, cardiac anatomy, non-cardiac abnormalities, and operative details were collected.Twenty-eight patients with a diagnosis of HLHS were included in the study. The mean +/- SD for weight was 3.4 +/- 0.85kg and 32 +/- 37 days for age. All infants at our institution who underwent a Norwood or DKS surgery for HLHS, or other forms of FSV with SOTO were included. All included patients underwent first stage palliation consisting of either a classical Norwood procedure in 6/23 (21%) patients, or a modified Norwood with right ventricle to pulmonary artery (RV-PA) conduit in 22/28 (79%) patients. After first stage palliation, 23 patients (82%) survived, and all but one underwent second stage palliation with bidirectional cavopulmonary anastomosis (BCPA). The survival rate after second stage repair was 91%. Subsequently, 4 patients completed a third stage Fontan with 100% survival. All deceased patients had HLHS.The Norwood procedure is applied to a heterogeneous group of patients with variable outcomes in certain subgroups. Patients with HLHS palliated with the Norwood procedure are at a greater risk for morbidity and mortality compared to those with other forms of FSV with SOTO.

Introduction Chronic illness may result in a variety of stressful outcomes, families of children with congenital heart disease are not exception. In Saudi Arabia, many public supporting groups for families with chronically ill children like diabetics or cancer patients are active and giving a great deal of help but unfortunately, non are available for families of children with severe congenital heart disease. Our study is an effort to put this issue in focus. Objective To evaluate the social impact on families of patients with of congenital heart disease. Design Cross sectional survey. Setting Pediatric cardiology outpatient department at Prince Sultan Cardiac Center – Qassim. Patients Parents of 71 randomly selected children with CHD of different severity. Main outcome measures The social impact on family score. Methods The impact on family questionnaire of Stein and Riessman was instituted. This questionnaire, which determines the effects of a chronic illness on parents and families, has been used to assess the impact of CHD. It is based on four subscales assessing perceived (1) financial burden; (2) familial/social impact; (3) personal strain; and (4) mastery. The first subscale contains four statements. The second subscale contains nine statements assessing social effects of CHD. The third subscale has six statements relating to the personal stress imposed by CHD on the parent. The third subscale has six statements relating to the personal stress imposed by CHD on the parent. The final subscale contains positively phrased statements to assess the positive effects of the child’s CHD on the parent’s feelings of control in his or her life. The parent’s response is given as a number from 1 to 4, where 1 represents strong agreement, 2 predominant agreement, 3 weak partial agreement, and 4 strong disagreement. The fourth subscale is reverse coded, so that it is compatible with the other subscales to calculate a final score where a low score corresponds to a high impact. This score is then inverted so that a high score is equivalent to a high impact. The questionnaire was administered by a two Researchers. Patients were divided into three groups according to the severity of the CHD they do have (Mild, Moderate and Sever). Mild CHD was defined as any CHD with no need for medical or surgical management. Moderate CHD was defined as a CHD which required surgical or cath intervention. Severe CHD was defined as CHD with single ventricle physiology who underwent Glenn or Fontan procedure, as well as patients with dilated CMP taking more than two cardiovascular medications. The mean impact on family scores was compared among the different groups by two sample t test analysis. Results Families of 71 children with severe CHD were interrogated. The main age was 3.76 ± 3 years. 23 were males (32.4%) and 48 (67.6%) were females. Mild CHD constitute 36.6%, moderate 29.6% and severe 33.8%. Families of children with severe CHD had a significantly higher impact on family score (mean of 62) than families with mild and moderate CHD (mean of 48) P value > .005. Conclusion Families of patients with severe CHD have significant social impact because of their child illness. Supporting public groups in Saudi Arabia should be initiated and encouraged.

to have CHD (32%); 25 out of the 52 mothers with abnormal obstetric sonogram (48%), 4 out of the 26 mothers with positive past history for CHD (15%), and 3 out of the 22 mothers with systemic disease (14%). CHD were of different expressions ranging from simple cardiac defects to complex lesions, as well as cardiac arrhythmias. Discussion: Fetal echocardiography has been introduced as an essential antenatal procedure for high risk pregnancies. It proved great value to diagnose many cardiac defects and help giving time to think of available plans of management. In our institution we evaluated 100 mothers and diagnosed 32 fetuses to have different types of CHD and help in making their cardiac plans as well as assurance of other 68 mothers with normal fetal echocardiography. Conclusion: Fetal echocardiography evaluation is important for antenatal cardiac diagnosis and postnatal management plans. Almost all types of CHD can be detected with 2-D echocardiography. Collaboration with perinatologists is of great importance to improve this service.

Worldwide congenital heart defects (CHD) are the leading cause of infant deaths owing to congenital anomalies. Delay in diagnosing and operating in neonates with prostaglandin dependant CHD may lead to significant morbidity and mortality. Objectives: To assess the time interval needed for acceptance and transfer of patients with critical CHD to a tertiary cardiac center and the impact on the patient’s survival. Study design: Retrospective database reviews of all cases diagnosed to have prostaglandin dependant (PG) CHD at Prince Sultan Cardiac Center-Qassim during a 43 months period (from May 2007 to December 2010). Results: During the study period 104 patients were diagnosed to have PG dependant CHD. Patients with PG dependant systemic circulation constitute 60% of patients. Patients with ventricular septal defect (VSD) associated with coarctation of the aorta constituted 16% of patients. The mean waiting time for transfer to a tertiary cardiac center was 10 ± 10 days. Twenty-two (21%) patients died while waiting for acceptance and transfer. Eleven patients were diagnosed with hypoplastic left heart syndrome (HLHS). There was no significant difference in the waiting time for those with or without HLHS, with a mean of 9 days for both. Six of our patients had infections with positive blood cultures. The mean waiting period for those with proved infection was 25 days compared with 8 days for those with no proved infection (p value

Introduction Over the last decade, stent implantation has become a widely accepted, effective therapy for the treatment of pulmonary arterial (PA) stenoses. Stent implantation has proved to be a safe procedure with minimal complications. Objectives To review our experience with branch PA stenting. We reviewed also catheter based interventions for patients with right aortic arch and crossed pulmonary arteries associated with branch PA stenosis. Method Retrospective data analysis of all patients who had branch PA stenting at KACC, NGHA, Riyadh KSA, during the period from January 2006 till October 2009. Patients with pulmonary atresia VSD and MAPCAS were excluded. Results Twenty-one patients were identified to have PA stenting during the study period. 14 were females (66.7%). Six patients (29%) were syndromic (Alagile syndrome, DiGeorge syndrome, Down syndrome, Goldenhar Syndrome, and Noonan Syndrome). Five patients (24%) had crossed Pas. Seven patients (33%) had PA, VSD, PDA, Two had TOF, one had AVSD with TOF, one DORV, one TGA, one truncus arteriosus with IAA type B, and one had Bicuspid AV with aortic stenosis as a primary diagnosis. All of them had branch PA stenting as a secondary procedure (post surgical intervention). Six patients (29%) had PA stenting as a primary intervention with no prior surgical intervention. Six patients (29%) had Bilateral branch PAs stenting, 11 (52%) had LPA stenting and 4 (19%) had RPA stenting. The median age at branch PA stenting was 35 months (range 2 months to 45 years). The median weight was 10.5 kg (2.8–100 kg). The median F/U period was 32 months (40 days to 61 months). Ten patients (48%) required stent dilatation after a median period of 28 months (12–38 months). One patient had failed LPA stenting (stent embolized and parked into RPA) who later underwent another intervention with successful LPA stenting. Conclusion Stent implantation has proved to be a safe procedure with minimal complications. Even in those with crossed Pas. Restenoses is long term concerns which are amenable to redilatation with excellent results.

Kawasaki disease (KD), an acute febrile vasculitis, is the most common cause of acquired heart disease in infants and young children. However, the diagnosis of infantile KD can be difficult or delayed due to vague clinical manifestations. This current study aimed to review patients referred to pediatric cardiology at PSCC-Qassim with a diagnosis or suspicion of Kaawasaki disease. Methods Retospectively review of the database as well as patients files. Results During the period from August till 2009 August 2012, 23 patients were referred to PSCC-Q, with a mean F/U period of 32 months. The mean age of presentation ±SD was 32 ± 28 months (range 5–96 months). The timing of referral was ranging from 2 to 30 days from the onset of fever. 13 patients were having complete criteria for Kawasaki on presentation, 8 of them developed cardiac affection. Out of the 22 patients referred 12 had cardiac abnormality in the form of mitral insufficiency in 2, aortic root dilatation in one and coronary artery involvement in 6 patients. All patients except one received IgG at a mean time from onset of fever of 10 ± 6 days (range 5–30 days). Two patients required a second dose of IgG after 48 h from the first dose. Initial echo was normal in 13. The most commonly affected coronary artery was the LAD. ECG was abnormal in one. Comparison between the groups with and without cardiac affection was done. There was a difference in all variables but did not reach a statistically significant value. Conclusion A significant number of patients with complete as well as incomplete Kawasaki had cardiac involvement especially coronary atery affection. Delay in the referral as well as in the administration of IgG may lead to developement of coronary artery involvement.