The Prevalence of Cardiovascular Manifestations in Pediatric Sickle Cell Anemia Patients in a Large Tertiary Care Hospital in the Western Region of Saudi Arabia.

Background Sickle cell disease (SCD) is a common hematological disorder with a high prevalence in Saudi Arabia. Despite that, limited studies are available in our region regarding cardiovascular complications. Objectives The objective of the current study was to estimate the prevalence of cardiovascular complications among children with SCD. Design This was a cross-sectional study. Setting The study took place at a single tertiary-care center in Jeddah, Saudi Arabia. Materials and methods The study reviewed 126 electronic records of pediatric patients up to 16 years old diagnosed with SCD between January 2008 and December 2019 in King Abdulaziz Medical City (KAMC) in Jeddah, Saudi Arabia. Of these, 54 patients had a previous echocardiogram evaluation and were eligible for the study. Main outcomes measures The study identified cardiovascular complications in pediatric sickle cell patients. Sample size The study included a total of 54 pediatric sickle cell patients. Results The mean age was 11.9 (3.48) years, the male-to-female ratio was 2:1, the majority (94.4%) had the HbSS-HbSß0 genotype, the mean baseline hemoglobin F (fetal hemoglobin) was 20.30 (9.03%), and the clinical severity score was severe in 19 (35.2%) and mild/moderate in 35 (64.8%) patients. Cardiovascular complications occurred in 32 (59.3%) patients. Increased systolic blood pressure was detected in 10 (18.5%) patients. Echocardiography showed left ventricular dilatation in nine (16.7%) patients, tricuspid valve insufficiency in six (11.1%) patients, mitral valve insufficiency in four (7.4%) patients, hyperdynamic left ventricle in one (1.9%) patient, and pulmonary hypertension in one (1.9%) patient. Long QTc interval was noticed in three (5.6%) and cardiomegaly was detected in 18 (33.3%) patients. Conclusion Cardiovascular complications occurred at a high frequency in our pediatric population despite high baseline hemoglobin F levels. Early evaluation and continuous monitoring are important for early intervention.

A Case Report of Recurrent Subaortic Membrane in a 3-Year-Old Saudi Child.

INTRODUCTION: While only a few cases have been reported in pediatrics, subaortic stenosis (SAS) is a gradually progressive disorder rarely seen at birth and infancy, however, it is the most common type of aortic stenosis. It obstructs the blood flow across the left ventricular outflow tract (LVOT). Although the cause is still not well known, different etiologies have been suggested by the literature. While surgical resection is the definitive treatment, recurrence is observed in many patients, nonetheless, LVOT gradient usually progresses over years of follow-up. CASE PRESENTATION: We report the clinical and diagnostic course of a 41-months-old Saudi boy, asymptomatic child who was found to have progressive recurrent subaortic stenosis within a few months which required two redo sternotomy for sub-aortic membrane resection throughout a period of two years. DISCUSSION: SAS is usually detected incidentally in asymptomatic patients requiring an echocardiogram to assess other accompanying congenital heart defects (CHD), or rather potentially arising after repair of CHD. Patient close monitoring is important aspect given the nature of disease progression, re-operation for recurrence demonstrate significant increase over years, re-resection rate was 0 % after one year, 6 % after five years, and 8 % after 10 years. CONCLUSION: Recurrence of LVOT obstruction following sub-aortic membrane resection is common. Long-term follow-up care in postoperative patients is crucial. Majority of patients will need re-operation for recurrence at certain point during course of the disease.

Assessment of Auscultation Skills Among Junior and Senior Healthcare Providers for Pediatric Patients: A Retrospective Study.

Background Heart murmurs are defined as whooshing or swishing sounds, unlike the normal lub-dub sounds detected by physicians while using a stethoscope. They usually develop due to numerous pathologies, with congenital defects accounting for the majority of pediatric murmurs. Few studies have addressed the difference in auscultating skills between senior and junior healthcare providers. Therefore, this study aims to collect local data on this topic as well as identify the gap between experienced and inexperienced providers in their ability to accurately detect heart murmurs. Methodology This study utilizes a quantitative retrospective design to collect data from King Abdulaziz Medical City and King Faisal Cardiac Centre, Saudi Arabia, from October 1, 2018, to September 30, 2019. The medical records of 292 pediatric patients, who were 14 years of age or below according to the centers' aging system, were collected from the Hospital Information System (BESTCare). Subsequently, it was determined whether a senior (R3-R4 residents and above) or a junior (R1-R2 residents and interns) healthcare provider ordered an echocardiogram (ECHO). Finally, using the centers' imaging system (Xcelera) the exact reason for referral, heart murmurs in the case of this study, was obtained, as well as whether a pathologic cause of a murmur was seen in the ECHO image. By obtaining the aforementioned data, the accuracy of each referral was analyzed using statistical analysis software. Results ECHO results were categorized into positive and negative outcomes depending on the presence of a structural heart defect, patent foramen ovale (PFO) was considered negative as it causes innocent murmurs. The majority of positive results were atrial septal defects, patent ductus arteriosus, and ventricular septal defects. The majority of negative results were either a structurally normal heart or PFO, which a great number of providers ordered an ECHO for. The Pearson score p-value using the chi-square test was 0.432, leading to the conclusion that junior and senior providers had a similar accuracy of referrals during the study period. Conclusions Junior healthcare providers display sufficient knowledge of heart murmur auscultation skills similar to senior healthcare providers during the study period. However, because the data only included two local centers with a limited sample and the absence of further local research on this topic, it is necessary to conduct studies of a larger scope on this topic.

Risk Factors of Persistent Pulmonary Hypertension in Neonate in A Tertiary Care Referral Center.

BACKGROUND: Persistent pulmonary hypertension of the newborn (PPHN) is a condition in which pulmonary vascular resistance fails to decrease after birth. PPHN leads to hypoxemia due to right-to-left shunting of the blood through the fetal circulation. This study aimed to determine the association between PPHN and prematurity in neonates admitted to the neonatal intensive care unit (NICU). MATERIALS AND METHODS: This study is a single-center, retrospective, and cross-sectional study. Patients diagnosed with PPHN had been selected by using a non-probability consecutive sampling technique from 2016 to 2020 at King Abdulaziz Medical City in Jeddah, Saudi Arabia. Patients with PPHN who did not admit to NICU were excluded. RESULTS: Fifty-six patients had met the inclusion and exclusion criteria. Twenty-six neonates were born prematurely before 37 weeks of gestation, and 30 were born at 37 weeks or more. Among the study population, respiratory complications were seen in 30 patients with a rate of 53.6%. The most common complications were respiratory failure, persistent pulmonary hypertension, and cardiopulmonary arrest. CONCLUSION: Mortality was documented in 26 patients, with the complicated group having a rate of 73.3% compared to the uncomplicated group 15.4%. The most common complications seen in our patients were respiratory failure, persistent pulmonary hypertension, and cardiopulmonary arrest.

The Most Common Clinical Features of Kawasaki Disease Patients in King Abdulaziz Medical City.

Background Kawasaki disease (KD) is an acute idiopathic vasculitis affecting the small and medium-sized arteries especially coronary artery (CA). it occurs in childhood mostly below five years of age. Objective This study aims to identify the most common clinical features among KD patients in King Abdulaziz Medical City in Jeddah, Saudi Arabia from 1/1/1982 to 31/12/2018. Methods A case series study was conducted in all KD patients that were admitted to the King Abdulaziz Medical City from 1/1/1982 to 31/12/2018 except those who were diagnosed in other hospitals or whose diagnosis has later changed. The identification of patient was done by using the International Classification of Diseases (ICD) coding for KD (ICD9 446.1). Our data consisted of the patient's file number, age at presentation, gender, whether the patients received IVIG treatment or not, number of days of fever before starting IVIG treatment, response to IVIG treatment, season in which the symptoms started and clinical features based on body's system.  Result The study included 18 patients, 11 males showed that (55.6%) of patients met the criteria of typical KD and most of them were less than five years old. In addition, most patients were reported to have polymorphous rash, cough, irritability, vomiting, and a murmur. All patients who received intravenous immunoglobulin (IVIG) treatment which demonstrated an improvement even though those who started the treatment after 10 days of fever. Conclusion In typical KD patients, the distribution of the clinical features was almost identical. However, there were some variations in them among atypical KD patients. Moreover, Evan though KD in our region is not common as in Japan, the incidence of giant aneurism was higher. In addition to that, this study and other study conducted in Saudi Arabia found that screened patients reported tachycardia more than patients in Japan. Recommendation As KD is still idiopathic, we recommend more details to be collected from the patients, especially consanguinity as it is common in Saudi Arabia.

Rhabdomyoma and Hypoplastic Left Heart Syndrome - Case Report of a Very Rare Combination.

The most benign cardiac tumor in the pediatric population is cardiac rhabdomyoma. They are known to be associated with tuberous sclerosis complex. Here we report a case with multiple cardiac rhabdomyomas and another rare anomaly of the heart known as hypoplastic left heart syndrome. The fetus was antenatally diagnosed with echocardiography which showed both rhabdomyoma and hypoplastic left heart. The patient was started on prostaglandin immediately after birth. He was confirmed postnatally to have inoperable congenital hypoplastic left heart syndrome. On the third day, the baby started to have progressive bradycardia and then died.

The Prevalence of Congenital Heart Diseases in Syndromic Children at King Khalid National Guard Hospital from 2005 to 2016.

Background Congenital heart diseases (CHDs) are abnormalities that present in the heart since birth and are one of the leading causes of infant mortality in the world. CHDs are more common among children with dysmorphic syndromes. The current study aims to estimate the prevalence of many CHDs in different dysmorphic syndromes. Methods This was a retrospective chart review study conducted on all dysmorphic syndrome patients who attended genetic clinics at King Khalid National Guard Hospital in King Abdulaziz Medical City (KAMC), Jeddah, Saudi Arabia from 2005 to 2016. Dysmorphic pediatric patients less than 14 years old who had genetic testing to confirm their diagnosis were included in the study. Patients who did not have any previous echocardiography were excluded. Results A total of 212 individuals (47% males and 53% females) were included. Eighty-five percent of Down syndrome patients had CHDs, and the most common CHD was an atrial septal defect (ASD) (51%). In patients with Turner syndrome, 45% of them had CHDs, and bicuspid aortic valve (BAV) (40%) was the most common defect. In DiGeorge syndrome, 81% of patients had CHDs, and ventricular septal defect (VSD) (41%) was the most common. In Williams syndrome, 83% of patients had CHDs. All patients with Noonan, Edwards, CHARGE (coloboma, heart defects, atresia choanae (also known as choanal atresia), growth retardation, genital abnormalities, and ear abnormalities), and Rubinstein-Taybi syndromes were found to have CHDs. In Patau syndrome and Joubert syndrome, 50% of patients in each had CHDs. Patients with Prader Willi syndrome had normal findings in the echocardiogram. Conclusion The highest prevalence of CHDs was found in Down syndrome. This study has a significant impact on the future of managing and directing the resources to improve the quality of life for syndromic patients. Further studies are needed to confirm these findings and to increase the local data in the field of CHDs in Saudi Arabia among syndromic patients.

The Association Between Maternal Age and the Prevalence of Congenital Heart Disease in Newborns from 2016 to 2018 in Single Cardiac Center in Jeddah, Saudi Arabia.

Congenital heart diseases (CHD) are suggested to be associated with advanced maternal age in different ethnicities and geographical locations. To provide a profound ground for comparison with Saudi Arabian population, in this study, we have assessed the association between maternal age and congenital heart diseases for different age groups during the period from 2016 to 2018 in King Abdul-Aziz Medical City in Jeddah. In this case-control study, we found no evidence relating maternal age to the incidence of CHD. However, an association between maternal age and the type of CHD was found. Mothers who are 35 years old or younger are more likely to have a baby with atrial septal defects, while babies of mothers who are older than 35 presented mostly with ventricular septal defects and patent ductus arteriosus. Therefore, no modification to the local clinical practice, including a referral of patients for fetal echocardiography based on maternal age, is recommended.

Late complete heart block post-tetralogy of Fallot repair: a possible new predicting, precipitating factor and review of related cases.

Tetralogy of Fallot (TOF) is the most common form of cyanotic congenital heart disease beyond the age of 3 months. Complete heart block (CHB) is rare but a serious sequalae post-repair of TOF. We present a case of an 18-month-old child who developed late CHB after around 1 year of the corrective surgery of the congenital anomaly. On the regular follow-up visit, the patient assessment was unremarkable. However, there was bradycardia, 55 beats/min. The ECG showed complete atrioventricular dissociation. Echocardiogram was done and demonstrated severe tricuspid regurgitation (TR). The patient required a permanent pacemaker and he is currently well. We are presenting this case as a late unexpected CHB, with a possibility of progressive right-side dilatation as a contributing factor to CHB due to severe TR.

Q Fever Endocarditis in a Saudi Child: A Case Report and Literature Review.

Q fever is a zoonotic disease that is caused by Coxiella burnetii, a gram-negative coccobacillary bacterium. Human infection primarily occurs following the inhalation of aerosols containing C. burnetii. The infection can either present in an acute or chronic form. The three main presentations are flu-like syndrome, atypical pneumonia, and hepatitis. Chronic Q fever mainly affects the heart where the disease manifests as endocarditis. In this case report, the patient was born at term with congenital heart defects, namely double outlet right ventricle (DORV), ventricular septal defects (VSD), and coarctation of the aorta. He underwent coarctation repair and pulmonary artery binding. At the age of three years, he presented with palpitation, sudden high-grade fever, myalgia, and dyspnea. Endocarditis was suspected due to a history of a surgical repair of congenital heart defects. Blood cultures were negative, however, a diagnosis of Q fever endocarditis was confirmed based on serologic titers. Q fever endocarditis is a challenging diagnosis since the echocardiography findings are often nonspecific. Moreover, Q fever can present as negative-culture endocarditis with low sensitivity of blood and tissue polymerase chain reaction (PCR) for C. burnetii. Hence, the modified Duke criteria has considered phase 1 immunoglobulin G (IgG) titers of 1:800 or more as diagnostic for infective endocarditis. Although uncommon, physicians should maintain a high index of suspicion for Q fever endocarditis, especially among patients with pre-existing structural heart disease and associated symptoms and risk factors such as animal exposure.

A case of atypical systemic primary carnitine deficiency in Saudi Arabia.

Systemic primary carnitine deficiency (SPCD) is an autosomal recessive inborn error of fatty acid metabolism caused by a defect in the transporter responsible for moving carnitine across plasma membrane. The clinical features of SPCD vary widely based on the age of onset and organs involved. During infancy, patients might show episodes of hypoketotic hypoglycemia, hepatomegaly, elevated transaminases, and hyperammonemia. Skeletal myopathy, elevated creatine kinase, and cardiomyopathy are the main manifestations in children with SPCD, while in adults, the disorder is usually manifested as cardiomyopathy, arrhythmias, or fatigability. Here, we report a 5-year-old boy with SPCD that presented as dilated cardiomyopathy with atypical features, such as anemia, respiratory distress, and proximal muscle weakness. This report supports considering carnitine deficiency treatment in the work-up of unexplained pediatric dilated cardiomyopathy.

A Saudi Infant with Vici Syndrome: Case Report and Literature Review.

INTRODUCTION: Vici syndrome, a rare autosomal recessive disorder, was first described in 1988 by Vici et al. Only 78 cases have been reported to date. The syndrome is characterised by agenesis of the corpus callosum, hypopigmentation, cardiomyopathy, progressive failure to thrive, dysmorphic features, immunodeficiency and cataracts. Mutations in the gene epg5 have been identified as the cause of Vici syndrome. CASE DESCRIPTION: The parents are a consanguineous Saudi couple with two other children diagnosed with Gaucher disease. The patient was born at term and in the first 5 months had many hospital admissions for a recurrent chest infection. Physical examination, investigations and imaging studies revealed that the patient had agenesis of the corpus callosum, cataracts, psychomotor delay, immunodeficiency and hypopigmentation. The initial echocardiogram was normal. At 7 months, genetic testing confirmed the diagnosis of Vici syndrome with a c.3693G>Ap (Gln1231Gln) mutation in the gene EPG5. The patient developed a chest infection and was admitted to the pediatric intensive care unit. An echocardiogram was repeated and showed significant left ventricular dilation with a Z-score of 3.1, moderate mitral and tricuspid regurgitation, and depressed ventricular function with a fractional shortening of 17% and ejection fraction 37%. The patient's condition deteriorated, and he died aged 8 months. CONCLUSION: The symptoms of extensive system involvement in Vici syndrome have been present in the majority of reported cases and should prompt careful evaluation of this syndrome when such symptoms are present in an infant. In confirmed cases, close monitoring of the immune status and cardiac function, the two main causes of death among Vici syndrome patients, is vital to prevent rapid deterioration and improve life expectancy.