Anomalous right pulmonary artery from aorta, surgical approach case report and literature review.

BACKGROUND: Anomalous origin of one pulmonary artery from the aorta is a rare congenital anomaly affecting the right pulmonary artery more than the left. These patients are at risk for the early development of significant pulmonary hypertension. Early surgical treatment has been proven safe with excellent results. The surgical approach and technique is challenging and should be decided ahead before the patient to surgery. Different techniques were described including direct reimplantation, conduit interposition, aortic ring flap. AIM: We present a neonate with anomalous origin of the right pulmonary artery from the aorta and discuss the surgical technique and complications in the literature.

Aortopulmonary window with anomalous right coronary artery from the pulmonary artery. Case report and literature review.

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.

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.

Congenital Complete Heart Block Complicated by Atrial Flutter Diagnosis and Management.

Seventeen-month-old child was diagnosed in utero to have congenital complete heart block. The mother has Sjogren's syndrome with high Anti Ro antibodies. The baby was delivered at term with a heart rate of 55-60 beats per minute. Echocardiography revealed a structurally normal heart with a small atrial septal defect and moderate patent ductus arteriosus. At the age of 17 months, he developed atrial flutter which was aborted using electrical cardioversion in the Cath lab. No recurrence of the atrial flutter during a one-year follow-up.

Predictors of reintervention in neonates with critical pulmonary stenosis or pulmonary atresia with intact ventricular septum.

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.

The Value of Continuous Electrocardiographic Monitoring in Pediatric Cardiology: A Local Center Experience.

Objectives This study aims to evaluate the value of Holter monitoring in pediatric cases and look for the best predictor for abnormal Holter monitoring. Methodology All patients referred with cardiac symptoms associated or possibly related to abnormal cardiac rhythm from January 2019 to December 2020 were retrospectively reviewed. The demographic, clinical, 12-lead electrocardiography (ECG), echocardiography, and Holter monitoring results were reviewed. Multinomial logistic regression analysis was used to assess the correlation between gender, age, type of symptoms, ECG, and echo abnormalities, and Holter monitoring results were analyzed. Results During the study period, a total of 189 Holter monitoring was performed for 187 patients. The mean age at the performance of Holter monitoring was 88.6 ± 57 months. The female/male ratio was 1.5:1. The commonest indications for Holter monitoring were abnormal 12-lead ECG (30.7%), palpitations (30.7%), syncopal attacks (12.7%), and chest pain (6.9%). Patients with congenital heart disease (CHD) pre- or post-cardiac intervention constitute 9% of the total Holter monitoring cases. Apart from sinus arrhythmia, 12-lead ECG was abnormal in 57 (30%) patients, with premature atrial complexes (PACs) being the most common abnormality. Echocardiography was abnormal in 67 (35.4%) cases, with secundum atrial septal defect (ASD) (6.3%) and mitral valve prolapse (5.8%) being the commonest abnormalities. The Holter monitoring was completely normal in 89 (47.1%) cases. The commonest Holter abnormalities were PACs (12.7%), supraventricular tachycardia (SVT) (5.8%), and premature ventricular complexes (PVCs) (4.8%). There were 24 patients with SVT, and eight of them had normal Holter monitoring. One patient with SVT had ablation by the electrophysiologist. Using the multinomial logistic regression analysis, significantly abnormal 12-lead ECG, the presence of CHD, and abnormal echocardiography predict the presence of abnormal Holter results with a statistically significant p-value. Conclusion Most pediatric arrhythmias are benign. Holter monitoring provides reassurance for the patient and family. Abnormal Holter monitoring is more often observed in patients with paroxysmal or persistently abnormal 12-lead ECG with or without associated cardiac abnormalities or cardiac interventions. The yield of Holter monitoring is low in children referred because of chest pain, palpitations, or syncope with no other cardiac symptoms and with a structurally and functionally normal heart.

Assessing Pediatric Inter-Hospital Transfer: A single-center, Retrospective, Observational Study of Saudi Arabia's National Life-Saving Protocol.

Objective: To examine the accuracy of our national Life-Saving Protocol (LSP). To the best of our knowledge, this is the first study addressing this issue in Saudi Arabia. Background: LSP was created to facilitate triaging patients with LIFE or LIMB threatening conditions in peripheral hospitals with limited services to large regional hospitals to receive definitive care. Method: This is a retrospective single-center observational study over 12 months studying the patients who arrived via LSP to our Emergency room (ED), at the only regional pediatric hospital. For the subgroup of patients who were admitted to PICU through LSP, we further assessed their outcomes like mortality and length of stay (LOS) through a matched case-control study of 1:1 with similar patients who were admitted to our PICU via other routes rather than LSP. The primary outcome is to assess the accuracy of the LSP in triaging pediatric patients with LIFE of LIMB conditions. Secondary outcomes include assessing the association between LSP and (mortality, LOS) for those who were admitted to the regional PICU via LSP compared to patients admitted to PICU via other sources of admission. Results: During the study period, 118 patients arrived at our ED via LSP. Only 43 patients (36 %) were admitted to the PICU with LIFE or LIMB conditions. A total of 64 patients (54%) of the patients were admitted directly to the general pediatric ward from ED level due to absence of LIFE of LIMB threatening condition and 8% (n=9) were discharged immediately home from the ED level due to lack of any significant illness. One patient died at ED level, and one was referred to another hospital with a minor orthopedic injury. For those who were admitted to the PICU via LSP, the mortality rate was (13.9%) (6/43), and the control group was (4.6%) (2/43) with a p-value of 0.08. Conclusion: LSP is an excellent initiative and essential tool in our healthcare system; however, our study showed huge variation in the ability of the system to recognize true pediatric patients with LIFE or LIMB conditions. Our study might form a stepping-stone in future studies assessing the LSP at the national level.

Pulmonary arteriovenous malformation with unexplained cyanosis as the first presentation of hereditary haemorrhagic telangiectasia, case report, and literature review.

BACKGROUND: Pulmonary arteriovenous malformations (PAVMs) are rare pulmonary vascular anomalies. They can result in right-to-left shunt and, if significant, low systemic saturation, cyanosis, polycythaemia, and paradoxical systemic embolization. CASE SUMMARY: Eighteen months old female child was referred to our centre due to unexplained central and peripheral cyanosis. Based on the agitated saline contrast echocardiography study, computed tomography scan confirmed the presence of abnormal vasculature at the left lower lobe. Percutaneous closure of the PAVM was performed using Amplatzer Duct Occluder type 1 device. The genetic study revealed a pathogenic mutation in the endoglin gene, which is a known cause of hereditary haemorrhagic telangiectasia (HHT) inhered in an autosomal dominance pattern. DISCUSSION: PAVM could be the first manifestation of HHT. Closing the malformation percutaneously is feasible, which can eliminate the right to left shunt and improves the saturation. Genetic study is warranted in these cases, as well as long-term follow-up.

Percutaneous removal of air-bullet gunshot: case report and literature review.

BACKGROUND: Cardiac air bullet injuries are rare but can be associated with significant morbidity and mortality. CASE PRESENTATION: We 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. CONCLUSIONS: It is reasonable to try foreign body removal in the cath lab, for certain cases, and avoid cardiac surgery.

Pulmonary hypertension associated with congenital heart disease; clinical decision scenario.

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.

Lethal recurrent mycotic ascending aortic pseudoaneurysm in a 21-month-old child with repaired subaortic membrane.

Mycotic pseudoaneurysm of the aorta is a rare and lethal complication of pediatric congenital heart surgery. We report the lethal consequences of recurrent mycotic pseudoaneurysm in an 18-month-old baby, early after subaortic membrane resection. We managed to repair the pseudoaneurysm successfully by replacing the infected ascending aorta using bovine jugular vein graft, but unfortunately, the patient developed new pseudoaneurysm at the site of anastomosis which led to his death. Although prompt diagnosis and surgical management can save the patient life, uncontrolled infection can lead to the recurrence of the problem and lethal results.

Cardiac Catheterisation Interventions in Neonates and Infants Less Than Three Months.

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.

Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy.

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.

Clinical profile and mutation spectrum of long QT syndrome in Saudi Arabia: The impact of consanguinity.

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.

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.