Cardiac care in trisomy 18: A path to improved outcomes (case report).

Background: Trisomy 18 (also known as Edwards syndrome) is a chromosomal disorder characterized by severe developmental anomalies and cognitive deficits. Cardiac complications are a leading cause of mortality in these patients, and the role of cardiac interventions remains controversial. Case Presentation: We report a case of a full-term baby girl with trisomy 18, born via elective cesarean section. The neonate presented with pulmonary atresia and a series of other cardiac abnormalities, necessitating immediate intervention. Despite the initial challenges, including a brief episode of desaturation post-intervention, the patient responded positively to a balloon pulmonary valvuloplasty and emergency patent ductus arteriosus stent insertion, illustrating the potential benefits of cardiac interventions in patients with trisomy 18. Discussion: This case highlights the successful application of cardiac interventions in a patient with trisomy 18, challenging the notion of universally denying such treatments to this population. Our findings suggest that selective interventions can improve quality of life and stabilize the condition, supporting the need for further research to establish clear guidelines for treatment in this demographic. Conclusion: This case adds to the growing evidence supporting the feasibility and potential benefits of cardiac interventions in patients with trisomy 18, advocating for a more individualized approach to treatment.

Cytokine Profiling among Children with Multisystem Inflammatory Syndrome versus Simple COVID-19 Infection: A Study from Northwest Saudi Arabia.

BACKGROUND: Multisystem Inflammatory Syndrome in Children (MIS-C) is a novel syndrome associated with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection with varying clinical features. This study aimed to analyze the expression profiles of cytokines in blood, report the important clinical characteristics, and correlate these with the short- and mid-term outcomes. METHODS: This cross-sectional study was conducted on hospitalized children with MIS-C from March 2021 to May 2022. Phenotypes were classified into two groups (A,B) according to the severity of the disease and the need for invasive respiratory support. Clinical features, laboratory parameters, and outcomes were reported. RESULTS: We identified 60 children with MIS-C (mean age of 7.4 ± 3.8 years) compared to 30 age- and sex-matched controls with simple COVID-19. The clinical manifestations of MIS-C patients were fever (100%), respiratory (83.3%), GIT (80%), and conjunctivitis (80%). Twenty-seven MIS-C children (45%) required PICU admission due to shock and needed mechanical ventilation. Anemia, lymphopenia, and elevated levels of inflammatory and tissue injury markers were observed in the MIS-C groups (mainly B). High cytokine levels (IL-1ß, IL-6, IFN-α, GM-CSF, and HMGB1) were observed acutely in the MIS-C children, and a persistent elevation of some cytokines were reported at midterm follow-up, especially in Group B. CONCLUSION: Robust inflammatory response to COVID-19 disease with elevated IL-1ß, IL-6, and GM-CSF levels might explain the severity and outcome of the clinical syndrome.

Transcatheter occlusion of the vertical vein in a partial anomalous pulmonary venous connection with dual Drainage, case series with literature review.

Partial anomalous pulmonary venous return (PAPVR) is an uncommon type of congenital heart disease occurring due to abnormal drainage of one or more, but not all the pulmonary veins to the systemic veins or directly to the right atrium. The PAPVR might have single (to the systemic veins) or dual drainage (to the systemic as well as left atrium). Management depends on the shunt impact on the heart and lungs, and it is usually surgical correction. In case of PAPVR with dual drainage, there is a new trend of percutaneous occlusion of the vertical vein with dual drainage anatomy, so that the blood is obliged to flow to the left atrium as in normal hearts. The scope of this manuscript is to highlight the availability of this alternative option and to present our experience and outcome in 6 PAPVR patients with dual drainage treated using this percutaneous approach.

Effectiveness of stenting and subsequent re-implantation of disconnected pulmonary artery to restore the pulmonary hemodynamics.

INTRODUCTION: Early intervention in patients with congenitally disconnected pulmonary artery improves long-term outcome. CASE PRESENTATION: We present 3 cases of isolated disconnected pulmonary artery in the absence of associated structural heart disease during a period of 3 years. CONCLUSION: Transcatheter stenting of the feeding ductus arteriosus re-established pulmonary artery flow and growth. Successful surgical repair was achieved, and normal perfusion and complete function of the ipsilateral lung were regained.

The efficacy and safety of percutaneous balloon angioplasty for aortic coarctation in children. Acute and mid-term results in a single center experience.

OBJECTIVES: To assess the efficacy and safety of balloon angioplasty (BAP) procedure for treatment of coarctation of the aorta (CoA) in children. Methods: A retrospective study included 27 consecutive children, underwent BAP for either native-CoA (Na-CoA) or recoarctation (Re-CoA). Medical records, echocardiographic findings, angiographic and hemodynamic data were collected from the hospital database. Follow­up was scheduled at 1, 3, 6, 12 months after the procedure. The study took place over a period of 4.5 years, from April 2014 to January 2019, in Madinah Cardiac Center, Madinah, Northwest region, Saudi Arabia. RESULTS: The mean age of patients was 11.86±8.96 months. Seven children had Na-CoA and 20 children had Re-CoA. The success rate of the procedure was achieved in 23 children (85%), as BAP reduced the mean systolic pressure gradient across the CoA (Na-CoA: from 45.28± 18.3 to 9.8± 6.57 mm Hg, p=0.0009), and in Re-CoA groups (from 42.48±16.7 to 10.9±8.5 mm Hg, p less than 0.0001). In mid-term follow-up, the need for re-intervention occurred in 8 children of the cohort (3 children [42.8%] from the Na-CoA group, and 5 children [25%] from the Re-CoA group).  Conclusions: Balloon angioplasty is considered a safe procedure for the management of CoA, but its efficacy remains questionable especially for young infants with Na-CoA type. However, it is a reliable option for managing Re-CoA children, with a lower rate of future re-intervention.

Transcatheter device closure of ventricular septal defects in children: a retrospective study at a single cardiac center.

BACKGROUND: Ventricular septal defect (VSD) is the most common congenital heart disease in the pediatric population. Nowadays, trans-catheter closure is considered a feasible method of therapy for most muscular and some perimembranous types of VSDs. OBJECTIVE: Assess the safety, efficacy and outcome of percutaneous transcatheter closure of VSDs in children. DESIGN: Retrospective, single center study. SETTING: Madinah Cardiac Center, Madinah, Saudi Arabia. PATIENTS AND METHODS: The study included all consecutive children who underwent transcatheter closure of isolated VSD during the period from December 2014 to January 2019. The data were collected from hospital database medical records. Transthoracic echocardiography (TTE) and an electrocardiogram (ECG) were done before and after the procedure in all the patients. The device was implanted by the retrograde or antegrade approach. All patients were subjected to follow-up evaluation at 1, 3, 6, 12 months, and annually thereafter with TTE and ECG. MAIN OUTCOME MEASURES: Procedure success rate, clinical follow-up, TTE. SAMPLE SIZE: 70 children. RESULTS: The mean (standard deviation) age of patients was 10.2 (4.1) years (range: 2-18 years), and their mean body weight was 30.9 (13.9) kg (range: 7.0-57.7 kg). Forty-eight (68.6%) children had muscular VSD (mVSD), and 22 (31.4%) children had perimembranous VSD (pmVSD). The majority of defects were closed via the retrograde approach using the Amplatzer muscular occluder device. At 24 hours after the procedure, the success rate was 90%. Only four (5.7%) cases had major adverse events including complete atrioventricular block, hemolysis, and thrombus formation. CONCLUSION: Transcatheter closure is a safe and feasible procedure in VSDs of various morphologies, with a low adverse event rate. LIMITATIONS: Retrospective design, single-center study, absence of control group. CONFLICT OF INTEREST: None.

The trends and patterns of congenital heart diseases at Madinah Cardiac Center, Madinah, Saudi Arabia.

OBJECTIVES: To characterize the pattern of congenital heart diseases (CHDs) in Madinah, Saudi Arabia. METHODS: We retrospectively collected and analyzed the demographic and diagnostic details of all patients with CHDs referred at Madinah Cardiac Center (MCC) over a period of 3 years from January 2017 to December 2019. RESULTS: During the study period, 1,127 patients with CHDs were identified. The male to female ratio was 1.1:1, with a mean age of 8.4±2.4 years. The acyanotic CHDs were the predominant lesions, accounting for 84.8% of all cases, while the cyanotic types accounted for 13%. Patent ductus arteriosus (PDA), ventricular  septal defects (VSD), atrial septal defects (ASD), coarctation of the aorta (CoA), and atrioventricular septal defect (AVSD) were the most common acyanotic CHDs and represented 27.9%, 24.8%, 18.9%, 6.4%, and 4.4% of the total cases, respectively. Tetralogy of Fallot (ToF) (8.7%), followed by transposition of the great arteries (TGA) (1.7%) and truncus arteriosus (1.1%), were the most common cyanotic CHDs. There was a male predominance of VSD, ToF, CoA, TGA, and truncus arteriosus. In contrast, PDA, ASD, and AVSD were more common in females.  Conclusion: The pattern of CHDs observed in our study and age at which the diagnosis of CHDs was made were different from the other national and international studies, which points to a diagnostic issue along with problems of awareness on the part of the general population.

Assessment of quality of life among parents of children with congenital heart disease using WHOQOL-BREF: a cross-sectional study from Northwest Saudi Arabia.

BACKGROUND AND AIMS: Health-related quality of life (HRQOL) has garnered increasing interest especially for health care providers and researchers. The study aims to evaluate the HRQOL in parents of congenital heart disease (CHD) children, and to clarify the effect of the disease severity on the outcome of the HRQOL perception. Also, to analyze the internal consistency of the Arabic version of the World Health Organization (WHO) QOL-BREEF tool in order to determine whether the tool had good validity for the target population. METHODS: A cross-sectional study. The HRQOL perception was evaluated using WHOQOL-BREF questionnaire, and the internal consistency of the tool was tested using Cronbach's alpha (α-C), RESULTS: The study sample consisted of 200 individuals, 120 parents of CHD children, compared to 80 parents of children with minor illnesses (mean age of participating parents = 35.1 ± 9.8 years). While evaluating the HRQOL, the group of parents of children with minor illnesses had higher scores than the total group of parents of CHD children in all domains, indicating a better HRQOL. Class-IV subgroup of parents of CHD children showed the most significant lower total score of domains between all classes (44.47 ± 12, p < 0.001). With respect to the internal consistency of the WHOQOL-BREF, estimation of α-C values were 0.84 points for the group of parents of CHD children, and 0.87 for the group of parents of children with minor illnesses. CONCLUSIONS: This short-term study emphasized that, HRQOL scores among parents of CHD children are compromised, and the severity of their children illness significantly affect the total score of domains in their HRQOL perception. Furthermore, the tool showed to be practical and efficient to evaluate the QOL of parents of CHD children in our population in future researches.

Surgical palliation of univentricular heart disease in children with Down's syndrome: A systematic review.

OBJECTIVES: No standard protocol is available for the management of children with Down's syndrome (DS) and a functional single ventricle. This review attempts to determine the outcomes of the single ventricular surgical palliation pathway in high-risk children with DS. METHODS: Several databases were searched using the following MeSH terms: 'Congenital heart disease', 'Atrioventricular septal defect', 'Balanced AVSD', 'Unbalanced AVSD', 'Down's syndrome', 'Univentricular repair', 'bidirectional Glenn procedure', and 'Fontan procedure'. A structured algorithm was used for the selection of studies for an in-depth analysis. RESULTS: There was no universal agreement on the best surgical approach for unbalanced atrioventricular septal defect in DS. The majority of paediatric cardiac surgeons did not recommend the complete Fontan procedure; conversely, the use of a Glenn shunt (superior cavopulmonary connection) was preferred. CONCLUSIONS: Careful assessment of the suitability for Fontan surgery, including the absence of elevated pulmonary vascular resistance, pulmonary arterial anatomy, and function of the dominant ventricle, is mandatory. A staged surgical procedure ending with complete Fontan repair provides acceptable medium-term results.

Aspernolide F, as a new cardioprotective butyrolactone against doxorubicin-induced cardiotoxicity.

Endophytic fungi have known as a promising source of secondary metabolites. γ-Butyrolactones are a class of metabolites reported from Aspergillus genus, which attracted much attention for their bioactivities. This study aimed to assess the potential cardioprotective effects of aspernolide F (AF) separated from the endophytic fungus A. terreus against doxorubicin (DOX)-induced cardiotoxic effects in rats. Animals were treated with two different doses of AF for 10 days prior to DOX injection. Electrocardiographic (ECG), biochemical, histopathological and immunohistochemical analyses were performed. Results have shown that AF effectively protected against DOX-induced cardiac damage as AF counteracted DOX-induced ECG abnormalities and attenuated serum markers of cardiotoxicity (creatine kinase-MB, lactate dehydrogenase, troponin I, and troponin T). Histopathological examination of cardiac tissue revealed a remarkable improvement in DOX-induced lesions. In addition, AF ameliorated DOX-induced oxidative damage and increased the levels of antioxidants in cardiac tissues. AF treatment inhibited the activation of nuclear factor-κB (NF-κB) and decreased the immuno-expression of NF-κB in cardiac tissue. Furthermore, AF caused a marked lowering in the level of inflammatory cytokines (nitric oxide, tumor necrosis factor-α, and interleukin-6) in the cardiac tissue. Collectively, this study demonstrates the cardioprotective activity of AF against DOX-induced cardiac damage which may be due to its antioxidant and anti-inflammatory activities.

Anomalous Connection of the Right Superior Vena Cava to the Left Atrium in a Child with Bilateral Superior Vena Cavae: An Unusual Cause of Cyanosis.

Anomalous drainage of the right superior vena cava into the left atrium (LA) has been previously reported in the medical literature. We present a unique case of a child who had two superior vena cavae, a left superior vena cava that drained normally through the coronary sinus to the right atrium, and a right superior vena cava that drained anomalously to the LA.

Pristimerin protects against doxorubicin-induced cardiotoxicity and fibrosis through modulation of Nrf2 and MAPK/NF-kB signaling pathways.

BACKGROUND/PURPOSE: Pristimerin (Pris) is triterpenoid compound with many biological effects. Until now, nothing is known about its effect on doxorubicin (DOX)-induced cardiotoxicity. Hence, this study investigated the impact of Pris on DOX-induced cardiotoxic effects. MATERIALS AND METHODS: Rats were treated with Pris 1 week before and 2 weeks contaminant with repeated DOX injection. Afterwards, electrocardiography (ECG), biochemical, histopathological, PCR, and Western blot assessments were performed. RESULTS: Pris effectively alleviated DOX-induced deleterious cardiac damage. It inhibited DOX-induced ECG abnormities as well as DOX-induced elevation of serum indices of cardiotoxicity. The histopathological cardiac lesions and fibrosis were remarkably improved in Pris-treated animals. Pris reduced hydroxyproline content and attenuated the mRNA and protein expression of the pro-fibrogenic genes. The antioxidant activity of Pris was prominent through the amelioration of oxidative stress parameters and enhancement of antioxidants. Furthermore, Pris enhanced the activation of nuclear factor-erythroid 2 related factor 2 (Nrf2) signaling pathway as it increased the mRNA and protein expression of Nrf2 and Nrf2-dependent antioxidant genes (GCL, NQO1, HO-1). Additionally, the anti-inflammatory effect of Pris was obvious through the inhibition of mitogen activated protein kinase (MAPK)/nuclear factor kappa-B (NF-kB) signaling and subsequent inhibition of inflammatory mediators. CONCLUSION: This study provides evidence of the cardioprotective activity of Pris which is related to the modulation of Nrf2 and MAPK/NF-kB signaling pathways.

Assessment of cardiac functions in children with sickle cell anemia: doppler tissue imaging study.

BACKGROUND AND AIMS: The extent in which sickle cell anemia (SCA) impacts myocardial function in children is unclear. Doppler tissue imaging (DTI) was introduced as a new non-invasive echocardiographic method for assessment of ventricular systolic and diastolic functions. We undertook this study to assess subclinical impact of SCA on global myocardial performance in affected children using DTI and to correlate it with mean hemoglobin concentration. METHODS: Eighty five children with SCA (mean age 11.82 ± 3.7 years) was included as the study group and 55 age- and sex-matched healthy children as the control group. Conventional two-dimensional echocardiography was performed in both groups and DTI was used to determine right ventricular (RV) and left ventricular (LV) Tei indexes. Mean Hb concentration was correlated to the cardiac functions of SCA children. RESULTS: RV and LV Tei indexes were significantly higher in SCA group (mean ± SD: 0.54 ± 0.19 vs. 0.27 ± 0.01, p <0.0001 and 0.47 ± 0.09 vs. 0.30 ± 0.07, p <0.0001, respectively). Also, mean Hb concentration was correlated negatively with both LV Tei index (r = -0.611, p <0.0001) and with RV Tei index (r = -0.894, p <0.0001). On the contrary, fractional shortening (FS) did not correlate with mean Hb concentration (r = -0.044, p = 0.681). CONCLUSIONS: DTI technique appears to be more sensitive than conventional echocardiography in the early detection of myocardial dysfunction in children with SCA. This provides insights into the value of early screening and the potential for preventive therapy in children to avert cardiac morbidity and mortality in adults with SCA.

Usefulness of the multiplanar reformatting mode of three-dimensional echocardiography in evaluating valvular and structural heart disease: An experience from Saudi Arabia.

OBJECTIVE: The aim of this study is to compare the feasibility and capacity of multiplanar reformatting (MPR) mode of three-dimensional echocardiography (3DE-MPR technique) with two-dimensional echocardiography (2DE) for visualizing morphological details during evaluation of congenital heart disease (CHD). The study also seeks to validate the accuracy of 3DE MPR in determining cardiac valvular lesions and the application of the 3DE-MPR technique in daily clinical practice. METHODS: A cross-sectional study was carried out at Madinah Cardiac Centre, Saudi Arabia from May to December 2012. Various forms of CHD were diagnosed in 43 patients by conventional 2DE, and the patients were then examined with the 3DE-MPR technique using dedicated software and a standard protocol. RESULTS: Of the 43 patients, 23 (53.5%) were males and 20 (46.5%) females. Their age varied from 30 days to 146 months (mean age, 70.2 months and SD = 42.5 months) and their weight from 4 to 42 kg (mean weight, 20.2 kg and SD = 9.7 kg). The 2DE showed left heart lesions in nine patients (20.9%), right heart lesions in 23 (53.5%), atrial septal defects in five (11.6%) and complex CHD in six patients (14%). The 3DE MPR technique application and analysis was possible in all patients. The study demonstrated the fields where 3DE MPR was of additive value to conventional 2DE for the vena contracta area in valvular regurgitation severity and the planimetry for the valvular stenosis precise estimation, enface views of atrial septal defects with direct visualisation of shape and size of the defect, and segmental analysis of complex CHD using one window. The clinician and surgeon were then able to determine the mechanism and severity of the lesions and thus decide on appropriate treatment and management. CONCLUSION: The study demonstrated the usefulness of 3DE-MPR as a complement to conventional 2DE. The technique is a significant technological breakthrough that allows instant visualization of morphological details and precise determination of cardiac valvular lesions, which were less clearly delineated by 2DE alone.

The role of 3-dimensional echocardiography in evaluating congenital heart diseases.

OBJECTIVE: To assess the feasibility and efficacy of the real-time transthoracic 3-dimensional echocardiography (RTT-3DE) technique in providing more detailed information compared to 2-dimensional echocardiography (2DE) in patients with structural heart disease, and to explore its application in routine clinical use. METHODS: This cross sectional study was carried out at the Prince Sultan Cardiac Center, Riyadh, Kingdom of Saudi Arabia from January to June 2009. Patients with congenital heart disease (CHD) were evaluated by conventional 2DE followed by RTT-3DE using dedicated software and a standard protocol. The 3DE studies were graded as: A--new finding not on 2DE; B--useful anatomic perspective; C--equivalent to 2DE; or D--missed 2DE findings. RESULTS: Fifty patients, 29 (58%) males and 21 (42%) females with age range from one month to 17 years compose the study group. The 2DE showed 12 (24%) right heart and 18 (36%) left heart lesions, 12 (24%) septal defects, one (2%) aortopulmonary window, 4 (8%) complex CHD, and 3 (6%) borderline left ventricular volume. When compared with the 2DE studies, 3DE studies were graded A in 25, B in 24, and C in one case. CONCLUSION: The results in this study show that the RTT-3DE technique is feasible and very effective in providing more detailed information compared with 2DE in structural heart disease evaluation.

Feasibility and effectiveness of three-dimensional echocardiography in diagnosing congenital heart diseases.

Three-dimensional echocardiography (3DE), a novel approach employed in detecting congenital heart disease (CHD), has gained popularity since it was made commercially available in 2002. This modality is now accepted as an important diagnostic tool for diagnosing CHD. Advancement in transducer technologies and digital data processing allows the use of 3DE in daily clinical practice. In this review, modes of 3DE data acquisition and storage methods in the echocardiogram's machine's hard disk (data processing) are examined. Analysis of the acquired data (cropping or slicing the data set) and methods of illustrating the cropped data set for cardiologists and pediatric cardiovascular surgeons are also discussed. Published literature was searched in PubMed using the keywords "three-dimensional echocardiography", "congenital heart disease", "cropping", and "echoangiogram". This search produced 100 articles, which were further short-listed to 30 articles. Based on this algorithm, the final selected 30 articles were extensively examined in the current review. The clinical applications of real-time transthoracic 3DE, as well as novel transesophageal 3DE and color flow 3DE data set analyses (echoangiogram) in the routine practice of CHD assessment, are also reviewed. Finally, the limitations 3DE, together with the potential future developments required to improve various techniques of 3DE to make it more readily applicable, are examined.

Extended application of percutaneous pulmonary valve implantation.

OBJECTIVES: This study was designed to report a novel indication for percutaneous pulmonary valve implantation in patients with previous right ventricular outflow tract (RVOT) patch. BACKGROUND: Current indications for percutaneous pulmonary valve implantation are limited to patients who had pulmonary valve stenosis and/or regurgitation in a right ventricle-to-pulmonary artery conduit. Percutaneous pulmonary valve implantation has not been previously reported in patients with severe pulmonary valve regurgitation following repair of tetralogy of Fallot (TOF) using RVOT patch. METHODS: After assessment of the RVOT patch in multiple projections, a catheter was placed in a distal pulmonary artery branch. In patients with an RVOT patch, sizing of the narrowest diameter of the RVOT patch by manual inflation of a sizing balloon was performed; a stent was placed into the RVOT patch at the level of the narrowest area to anchor the stent and to create an artificial conduit to place the Melody valve. The percutaneous valve was then implanted. RESULTS: Seven females and 6 males with a mean age of 14.3 years and mean body weight 45 kg had successful percutaneous implantation of the Melody valve. Four patients had previous repair of TOF using RVOT patch. All patients were discharged within 2 days after the procedure without complications. After a mean of 4 months follow-up all patients were alive and well. Transthoracic echocardiography showed competent pulmonary valve. Chest X-ray showed no stent migration or fracture. CONCLUSIONS: Percutaneous pulmonary valve implantation can be performed in patients with pulmonary valve regurgitation, including those with previous RVOT patch using pre-stenting techniques, with satisfactory results.

Pulmonary atresia with intact ventricular septum and antenatal left ventricular failure.

Pulmonary atresia with intact ventricular septum has been described extensively, and it is recognized that associated abnormalities of the coronary arteries may cause ischemia. We describe a fetus, diagnosed antenatally as having pulmonary atresia with intact ventricular septum and severe hypoplasia of the right ventricle, who developed severe left ventricular dysfunction. We hypothesize that this is due to reduced coronary blood flow because of falling right ventricular volume in the presence of complete right ventricular coronary arterial dependence.