GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

The most important factor that complicates the work of dysmorphologists is the significant phenotypic variability of the human face. Next-Generation Phenotyping (NGP) tools that assist clinicians with recognizing characteristic syndromic patterns are particularly challenged when confronted with patients from populations different from their training data. To that end, we systematically analyzed the impact of genetic ancestry on facial dysmorphism. For that purpose, we established the GestaltMatcher Database (GMDB) as a reference dataset for medical images of patients with rare genetic disorders from around the world. We collected 10,980 frontal facial images - more than a quarter previously unpublished - from 8,346 patients, representing 581 rare disorders. Although the predominant ancestry is still European (67%), data from underrepresented populations have been increased considerably via global collaborations (19% Asian and 7% African). This includes previously unpublished reports for more than 40% of the African patients. The NGP analysis on this diverse dataset revealed characteristic performance differences depending on the composition of training and test sets corresponding to genetic relatedness. For clinical use of NGP, incorporating non-European patients resulted in a profound enhancement of GestaltMatcher performance. The top-5 accuracy rate increased by +11.29%. Importantly, this improvement in delineating the correct disorder from a facial portrait was achieved without decreasing the performance on European patients. By design, GMDB complies with the FAIR principles by rendering the curated medical data findable, accessible, interoperable, and reusable. This means GMDB can also serve as data for training and benchmarking. In summary, our study on facial dysmorphism on a global sample revealed a considerable cross ancestral phenotypic variability confounding NGP that should be counteracted by international efforts for increasing data diversity. GMDB will serve as a vital reference database for clinicians and a transparent training set for advancing NGP technology.

Next-generation phenotyping in Nigerian children with Cornelia de Lange syndrome.

Next-generation phenotyping (NGP) can be used to compute the similarity of dysmorphic patients to known syndromic diseases. So far, the technology has been evaluated in variant prioritization and classification, providing evidence for pathogenicity if the phenotype matched with other patients with a confirmed molecular diagnosis. In a Nigerian cohort of individuals with facial dysmorphism, we used the NGP tool GestaltMatcher to screen portraits prior to genetic testing and subjected individuals with high similarity scores to exome sequencing (ES). Here, we report on two individuals with global developmental delay, pulmonary artery stenosis, and genital and limb malformations for whom GestaltMatcher yielded Cornelia de Lange syndrome (CdLS) as the top hit. ES revealed a known pathogenic nonsense variant, NM_133433.4: c.598C>T; p.(Gln200*), as well as a novel frameshift variant c.7948dup; p.(Ile2650Asnfs*11) in NIPBL. Our results suggest that NGP can be used as a screening tool and thresholds could be defined for achieving high diagnostic yields in ES. Training the artificial intelligence (AI) with additional cases of the same ethnicity might further increase the positive predictive value of GestaltMatcher.

GestaltMatcher Database - A global reference for the facial phenotypic variability of rare human diseases.

Dysmorphologists sometimes encounter challenges in recognizing disorders due to phenotypic variability influenced by factors such as age and ethnicity. Moreover, the performance of Next Generation Phenotyping Tools such as GestaltMatcher is dependent on the diversity of the training set. Therefore, we developed GestaltMatcher Database (GMDB) - a global reference for the phenotypic variability of rare diseases that complies with the FAIR-principles. We curated dysmorphic patient images and metadata from 2,224 publications, transforming GMDB into an online dynamic case report journal. To encourage clinicians worldwide to contribute, each case can receive a Digital Object Identifier (DOI), making it a citable micro-publication. This resulted in a collection of 2,312 unpublished images, partly with longitudinal data. We have compiled a collection of 10,189 frontal images from 7,695 patients representing 683 disorders. The web interface enables gene- and phenotype-centered queries for registered users (https://db.gestaltmatcher.org/). Despite the predominant European ancestry of most patients (59%), our global collaborations have facilitated the inclusion of data from frequently underrepresented ethnicities, with 17% Asian, 4% African, and 6% with other ethnic backgrounds. The analysis has revealed a significant enhancement in GestaltMatcher performance across all ethnic groups, incorporating non-European ethnicities, showcasing a remarkable increase in Top-1-Accuracy by 31.56% and Top-5-Accuracy by 12.64%. Importantly, this improvement was achieved without altering the performance metrics for European patients. GMDB addresses dysmorphology challenges by representing phenotypic variability and including underrepresented groups, enhancing global diagnostic rates and serving as a vital clinician reference database.

Advocacy at the Eighth World Congress of Pediatric Cardiology and Cardiac Surgery.

The Eighth World Congress of Pediatric Cardiology and Cardiac Surgery (WCPCCS) will be held in Washington DC, USA, from Saturday, 26 August, 2023 to Friday, 1 September, 2023, inclusive. The Eighth World Congress of Pediatric Cardiology and Cardiac Surgery will be the largest and most comprehensive scientific meeting dedicated to paediatric and congenital cardiac care ever held. At the time of the writing of this manuscript, The Eighth World Congress of Pediatric Cardiology and Cardiac Surgery has 5,037 registered attendees (and rising) from 117 countries, a truly diverse and international faculty of over 925 individuals from 89 countries, over 2,000 individual abstracts and poster presenters from 101 countries, and a Best Abstract Competition featuring 153 oral abstracts from 34 countries. For information about the Eighth World Congress of Pediatric Cardiology and Cardiac Surgery, please visit the following website: [www.WCPCCS2023.org]. The purpose of this manuscript is to review the activities related to global health and advocacy that will occur at the Eighth World Congress of Pediatric Cardiology and Cardiac Surgery.Acknowledging the need for urgent change, we wanted to take the opportunity to bring a common voice to the global community and issue the Washington DC WCPCCS Call to Action on Addressing the Global Burden of Pediatric and Congenital Heart Diseases. A copy of this Washington DC WCPCCS Call to Action is provided in the Appendix of this manuscript. This Washington DC WCPCCS Call to Action is an initiative aimed at increasing awareness of the global burden, promoting the development of sustainable care systems, and improving access to high quality and equitable healthcare for children with heart disease as well as adults with congenital heart disease worldwide.

Impact of the 2017 AAP clinical guideline on the prevalence of high blood pressure among adolescents in Lagos, Nigeria.

Introduction: Adolescent high blood pressure (HBP) can lead to several end-organ complications if it continues into adulthood. The 2017 AAP Guideline has lower blood pressure cut-off points and consequently leads to the identification of more people with high blood pressure. This study evaluated the impact of the 2017 American Academy of Pediatrics (AAP) Clinical Guideline on the prevalence of high blood pressure among adolescents when compared to the 2004 Fourth Report. Methodology: A descriptive cross-sectional study was conducted from August 2020 to December 2020. The selection of 1,490 students, 10-19 years old, was by a two-stage sampling technique. Socio-demographic information and relevant clinical data were obtained using a structured questionnaire. Blood pressure was measured according to standard protocol. Categorical and numerical variables were summarized using frequency, percentages, mean, and standard deviation. The McNemar-Bowker test of symmetry was used to compare the blood pressure values in the 2004 Fourth Report and the 2017 AAP Clinical Guideline. The Kappa statistic was used to test for the degree of agreement between the 2004 Fourth Report and the 2017 AAP Clinical Guideline. Results: The prevalence rates of high blood pressure, elevated blood pressure, and hypertension among adolescents were 26.7%, 13.8%, and 12.9%, respectively, using the 2017 AAP Clinical Guideline, and 14.5%, 6.1%, and 8.4%, respectively, using the 2004 Fourth Report. The degree of agreement between the 2004 and 2017 guidelines with respect to the classification of blood pressure was 84.8%. The Kappa statistic was 0.71 (CI: 0.67-0.75). The impact of this was a 12.2%, 7.7%, and 4.5% increase in the prevalence of high blood pressure, elevated blood pressure, and hypertension, respectively, using the 2017 AAP Clinical Guideline. Conclusion: The 2017 AAP Clinical Guideline detects a greater proportion of high blood pressure among adolescents. The adoption of this new guideline in clinical practice and its use in the routine screening of high blood pressure among adolescents is recommended.

High blood pressure pattern amongst adolescents in Lagos, South West Nigeria.

Introduction: high blood pressure (HBP), once considered rare in adolescents is now a growing health problem. Usually asymptomatic in adolescents, if uncontrolled, can track into adulthood leading to various end-organ complications. In 2017, the American Academy of Pediatrics (AAP) published a new Clinical Practice Guideline (CPG) for screening and management of high blood pressure in children and adolescents to update the 2004 Fourth report. The objective of this study was to determine the prevalence of high blood pressure among adolescents in Mushin Local Government Area (LGA) using the 2017 AAP guidelines. Methods: a descriptive cross-sectional study, conducted from August 2020 to December 2020. A two-stage sampling technique was used to select 1490 students aged 10 to 19 years, from 14 secondary schools. Socio-demographic information and relevant clinical data were obtained using a structured questionnaire. The anthropometry and blood pressure measurements were taken according to standard protocol (elevated blood pressure is systolic and/or diastolic blood pressure ≥ 90th percentile but ≤ 95th percentile for age, gender and height). Socio-demographic and anthropometric characteristics were described with descriptive statistics. Categorical variables were summarized using frequency and percentages, while numerical variables were summarized using mean and standard deviation. The predictors of hypertension were determined using logistic regression analysis. Results: study participants were 1490, 49.9% (744) were male and 50.1% (746) females (male: female ratio was 1: 1). Subjects mean age was 14.39 ± 2.79 years. There were 8.9% overweight and 1.7% obese participants. Prevalence of high blood pressure, elevated blood pressure and hypertension were 26.7% (n = 398), 13.8% (n = 205), and 12.9% (n = 193). Middle and late adolescence, when compared to early adolescence, significantly predicted the likelihood of high blood pressure; aOR 1.78, 95%CI: 1.20 - 2.63, p=0.004 and 3.90 (2.69 - 5.67, p=0.001 respectively). Similarly, male sex had increased odds for raised blood pressure when compared to female sex aOR 1.49,95% CI: 1.1 - 2.0, p= 0.009. Conclusion: the prevalence of high blood pressure, elevated blood pressure and hypertension amongst adolescents was high. Early detection and treatment will forestall development of complications.

Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1.

Neurofibromatosis type 1 is an autosomal dominant multisystemic disease caused by mutation of the neurofibromin (NF1) gene located on chromosome 17q11. We report a case of Neurofibromatosis 1 with ambiguous genitalia, giant congenital melanocytic nevus, and associated subpulmonic outlet ventricular septal defect, hitherto unreported in sub-Saharan Africa. In addition, a literature review of congenital heart diseases associated with Neurofibromatosis 1 is presented.

Hajdu-Cheney syndrome with atypical cardiovascular abnormalities.

Hajdu-Cheney syndrome is an ultra-rare autosomal dominant disorder caused by a heterozygous variant in NOTCH2 gene. Characteristic features include osteolysis, distinct facial appearance, skull deformity, joint laxity, osteoporosis, and short stature. Associated abnormalities are congenital heart disease, congenital defects of the kidney, and neurological problems. Here, we present the first reported case of an African child with a variant in NOTCH2 gene and features of Hajdu-Cheney syndrome in whom we detected a congenital heart defect that has not been previously reported in association with the syndrome. To appropriately characterize this disease and document correct proportion of cardiovascular malformation associations, echocardiography is recommended for all cases of Hajdu Cheney syndrome.

Coagulation abnormalities in children with uncorrected congenital heart defects seen at a teaching hospital in a developing country.

BACKGROUND: Coagulation abnormality is a significant complication and cause of mortality in children with uncorrected congenital heart defects (CHD). The aim of this study was to determine the prevalence of coagulation abnormalities and the associated factors in children with uncorrected CHD. METHOD: A cross sectional study conducted to determine the prevalence of coagulation abnormalities among 70 children with uncorrected CHD aged six months to 17 years and 70 age and sex matched apparently healthy controls. Coagulation abnormalities was determined using complete blood count, prothrombin time, activated partial thromboplastin time and D-dimer assay. RESULTS: The prevalence of coagulation abnormalities among children with CHD and controls was 37.1% and 7.1% respectively. Children with Cyanotic CHD had a significantly higher prevalence of coagulation abnormalities compared to children with Acyanotic CHD (57.1% versus 17.1%). Haematocrit and oxygen saturation levels were significantly associated with coagulation abnormalities. CONCLUSION: This study affirms that coagulation abnormalities are frequent in children with uncorrected CHD. Oxygen saturation and haematocrit are risk factors of coagulation abnormalities. Routine coagulation screen is recommended especially in children with cyanotic congenital heart defects to improve their quality of life and reduce morbidity and mortality while awaiting definitive surgeries.

Clinical presentation and short-term outcomes of multisystemic inflammatory syndrome in children in Lagos, Nigeria during the COVID-19 pandemic: A case series.

Background: Multisystemic inflammatory syndrome in children (MIS-C) has increasingly been documented globally with the progression of the COVID-19 pandemic and a significant proportion of cases have been noted in children of Black descent. There has been a noticeable discrepancy in the presentation and outcomes of COVID-19 infection in sub-Saharan Africa compared to the rest of the world. We documented the demography, clinical features, laboratory and imaging findings, therapeutic management, and short-term outcomes of paediatric patients with MIS-C diagnosed during the COVID-19 pandemic in Lagos, Nigeria. Methods: We carried out a retrospective review of MIS-C cases seen in nine public and private hospitals in Lagos from July 10, 2020 to July 30, 2021. Data on clinical presentation, laboratory investigations, therapy as well as outcomes at 2 weeks, 6 weeks, 3 months and 6 months were analyzed. Findings: 28 children and adolescents with median age of 7·5 (IQR 2·3 - 9·4) years were diagnosed with MIS-C. MIS-C was suspected in 24 patients (85·7%) at initial clinical evaluation and mucocutaneous, gastrointestinal and cardiovascular manifestations were identified in 75·0%, 71·4% and 89·3% of patients respectively. Acute kidney injury and aseptic meningitis were noted in 32·1% and 17·9% of patients respectively. Cardiac manifestations at presentation included coronary dilatation and pericardial effusion in 46·4% each, ventricular dysfunction (32·1%), atrioventricular valve regurgitation (25·0%), prolonged QTc interval (40·0%) and first-degree atrioventricular block (16·0%). Therapy included aspirin in 89·3%, steroids in 75·0% and intravenous immunoglobulin (IVIG) infusion in 60·7%. All patients survived and were discharged after a mean of 11·14 (SD 5·65) days. Frequency of coronary dilatation had reduced from 46·4% to 7·1% by 3 months follow up and prolonged QTc interval persisted until the 6 week follow up in 4.5% of patients. Echocardiogram and electrocardiogram findings were normal in all patients assessed at 6 months follow up. Interpretation: MIS-C is an important diagnosis in children presenting with prolonged fever during the COVID-19 pandemic. Cardiovascular manifestations occurred in several children with MIS-C and improved by 6 months follow up. Early diagnosis and prompt institution of a combination of antiplatelet therapy, steroids and IVIG appear to be beneficial. Funding: None.

Congenital heart defects in orofacial cleft: A prospective cohort study.

BACKGROUND: Congenital heart defects (CHDs) are one of the most common associated anomalies in patients with an orofacial cleft (OFC). However, few studies have shown the association between cleft type and CHDs in our population. This study aimed to assess the prevalence of CHDs in a cohort of OFC patients at a tertiary health facility in Nigeria, as well as assess the risk of CHD by OFC type. MATERIALS AND METHODS: This was a prospective study design. Patients with an OFC were consecutively enrolled at a single OFC treatment facility. All subjects were assessed by a paediatric cardiologist and had echocardiography done. They were categorised based on the presence of CHDs, as well as the OFC phenotypic type (cleft lip and/or alveolus, cleft lip and palate and cleft palate only). Statistical analysis was done using STATA version 14 (College Station, Texas), and significance was set at P < 0.05. RESULTS: A total of 150 subjects enrolled in the study over a period of 2 years (2018-2020). The median age of subjects was 6 months (interquartile range: 2-24), and 54.7% were female. The prevalence of CHDs in the subjects reviewed was 30.7%. Based on the severity of CHDs, the majority presented with simple defects (95.6%). Overall, the most common presentation was patent foramen ovale (12.7%), followed by septal defects (8.0%). There was no significant association between cleft type and the odds of a CHD. CONCLUSION: The study reports a relatively high prevalence of CHDs in patients with OFC; however, there was no association between the risk of CHD by cleft type. Although a majority of CHDs may pose a low operative risk, cardiac evaluation is recommended for all cases of OFC to aid the identification of potentially high-risk cases.

Electrocardiographic pattern of apparently healthy African adolescent athletes in Nigeria.

BACKGROUND: Strategies to prevent sudden cardiac death (SCD) among young athletes have become topical worldwide and unrecognized cardiac pathology has been identified as a leading cause. Black ethnicity has been reported as an independent predictor of abnormal electrocardiography (ECG) findings among athletes and the frequency and significance of training-related ECG findings versus findings suggestive of an underlying pathology in the young African athletes is crucial. METHODS: This cross sectional study aimed to determine the prevalence and distribution of ECG patterns in young athletes and controls. A total of 360 participants (180 athletes and 180 controls) were recruited from six secondary schools in Lagos, Nigeria between November 2014 and July 2015. Evaluation included interviewer-administered questionnaires for relevant history, physical examination and resting 12 - lead ECG for each participant. RESULTS: Abnormal ECG patterns were found in 48.3% of athletes and 35.6% of controls. Training-related ECG findings occurred in 33.3% of athletes and 18.3% of controls. Athletes and controls had 7.7% prevalence of training un-related ECG patterns respectively. Left ventricular hypertrophy was the most common ECG finding among the athletes and male athletes had a higher prevalence of ECG abnormalities compared to females. CONCLUSION: Adolescent athletes in Nigeria have a high prevalence of training-related ECG patterns and athletes and non-athletes alike have similar proportions of ECG findings suggestive of underlying structural heart disease. Cardiovascular evaluation including ECG should be performed for young athletes prior to competition at any level and should also be considered as part of pre-school entry assessment for all children.

Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa.

BACKGROUND: Congenital heart disease (CHD) is the most common birth defect and affects roughly 1% of the global population. There have been many large CHD sequencing projects in developing countries but none in sub-Saharan Africa. In this exome sequencing study, we recruited families from Lagos, Nigeria, affected by structural heart disease. METHODS: Ninety-eight participants with CHD and an average age of 3.6 years were recruited from Lagos, Nigeria. Exome sequencing was performed on probands and parents when available. For genes of high interest, we conducted functional studies in Drosophila using a cardiac-specific RNA interference-based gene silencing system. RESULTS: The 3 most common CHDs were tetralogy of Fallot (20%), isolated ventricular septal defect (14%), and transposition of the great arteries (8%). Ten percent of the cohort had pathogenic or likely pathogenic variants in genes known to cause CHD. In 64 complete trios, we found 34 de novo variants that were not present in the African population in the Genome Aggregation Database (v3). Nineteen loss of function variants were identified using the genome-wide distribution of selection effects for heterozygous protein-truncating variants (shet). Nine genes caused a significant mortality when silenced in the Drosophila heart, including 4 novel disease genes not previously associated with CHD (UBB, EIF4G3, SREBF1, and METTL23). CONCLUSIONS: This study identifies novel candidate genes and variants for CHD and facilitates comparisons with previous CHD sequencing studies in predominantly European cohorts. The study represents an important first step in genomic studies of CHD in understudied populations. Registration: URL: https://www.clinicaltrials.gov; Unique identifier: NCT01952171.

Rubinstein-Taybi syndrome in diverse populations.

Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP or EP300. Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, and intellectual disability. RSTS phenotype has been well characterized in individuals of European descent but not in other populations. In this study, individuals from diverse populations with RSTS were assessed by clinical examination and facial analysis technology. Clinical data of 38 individuals from 14 different countries were analyzed. The median age was 7 years (age range: 7 months to 47 years), and 63% were females. The most common phenotypic features in all population groups included broad thumbs and/or halluces in 97%, convex nasal ridge in 94%, and arched eyebrows in 92%. Face images of 87 individuals with RSTS (age range: 2 months to 47 years) were collected for evaluation using facial analysis technology. We compared images from 82 individuals with RSTS against 82 age- and sex-matched controls and obtained an area under the receiver operating characteristic curve (AUC) of 0.99 (p < .001), demonstrating excellent discrimination efficacy. The discrimination was, however, poor in the African group (AUC: 0.79; p = .145). Individuals with EP300 variants were more effectively discriminated (AUC: 0.95) compared with those with CREBBP variants (AUC: 0.93). This study shows that clinical examination combined with facial analysis technology may enable earlier and improved diagnosis of RSTS in diverse populations.

Congenital heart disease in school children in Lagos, Nigeria: Prevalence and the diagnostic gap.

Congenital heart disease (CHD) in low-and-middle income countries (LMIC) is often characterized by late presentation resulting from inadequate screening and healthcare access in these regions. Accurate estimates of the burden of CHD among school children are often lacking. The objective of this study was to determine the prevalence and distribution of CHD among school children in two communities (urban and semi-urban) in south western Nigeria. Using clinical assessment and portable echocardiography, 4107 school children aged 5 years to 16 years in Lagos, Nigeria, were selected using a multistage sampling procedure and screened for CHD. Diagnosis of CHD was made after echocardiography. Children identified with CHD were referred to a tertiary hospital for appropriate cardiac care. The 4,107 children screened had a mean age of 11.3 ± 2.7 years and 53.7% were females. Twenty seven children had echocardiography-confirmed CHD, representing a prevalence of CHD among school children in Lagos, Nigeria of 6.6 per 1000 children. Acyanotic CHD constituted 96.3% of detected cases. Two children diagnosed with CHD (Tetralogy of Fallot and severe pulmonary valve stenosis respectively) had successful intervention. The prevalence of previously undiagnosed CHD among school children in Lagos Nigeria is substantial and highlights gaps in the health care system and school health programs. Echocardiographic screening of school children provides an opportunity for missed early diagnosis and treatment of CHD and reduces the prevalence of first-diagnosed CHD in adulthood. Therefore, focused clinical examination of school children followed by echocardiography is a strategy that could bridge this diagnostic and treatment gap in CHD.

Turner syndrome in diverse populations.

Turner syndrome (TS) is a common multiple congenital anomaly syndrome resulting from complete or partial absence of the second X chromosome. In this study, we explore the phenotype of TS in diverse populations using clinical examination and facial analysis technology. Clinical data from 78 individuals and images from 108 individuals with TS from 19 different countries were analyzed. Individuals were grouped into categories of African descent (African), Asian, Latin American, Caucasian (European descent), and Middle Eastern. The most common phenotype features across all population groups were short stature (86%), cubitus valgus (76%), and low posterior hairline 70%. Two facial analysis technology experiments were conducted: TS versus general population and TS versus Noonan syndrome. Across all ethnicities, facial analysis was accurate in diagnosing TS from frontal facial images as measured by the area under the curve (AUC). An AUC of 0.903 (p < .001) was found for TS versus general population controls and 0.925 (p < .001) for TS versus individuals with Noonan syndrome. In summary, we present consistent clinical findings from global populations with TS and additionally demonstrate that facial analysis technology can accurately distinguish TS from the general population and Noonan syndrome.

Tuberous sclerosis in a patient from Nigeria.

Tuberous sclerosis complex (TSC) is an autosomal dominant syndrome characterized by mostly benign tumors of the brain, skin, heart, kidney, and eye. Aberrations in the genes TSC1 and TSC2 which encode hamartin and tuberin, respectively, cause TSC. Because disease manifestations develop over time, early diagnosis and intervention are imperative for patients. TSC is not well described in patients from sub-Saharan Africa or of black African ancestry. Here, we report on a 4-year-old Nigerian boy with skin lesions and cardiac anomalies associated with TSC. Furthermore, we note that in areas with limited resources for genetic diagnoses, the common skin manifestations found in TSC may be especially useful clinical markers.

Echocardiographic screening of 4107 Nigerian school children for rheumatic heart disease.

OBJECTIVE: Echocardiographic screening for Rheumatic Heart Disease (RHD) in Africa has revealed prevalence rates in the range of 0.5-7.4%. There are no recent large population-based studies in Nigeria. The objective of the study was to determine the prevalence of RHD in a large sample of Nigerian school children. METHODS: Using portable transthoracic echocardiography and auscultation, school children aged 5 years to 16 years in Lagos, Nigeria were screened for RHD. Diagnosis was based on the 2012 World Heart Federation echocardiographic criteria. RESULTS: The 4107 children screened had mean age of 11.3 years (SD = 2.6) and 2206 (53.7%) were females. There were 38 children with abnormal echocardiograms, of which 11 (0.27%) showed RHD including two cases of definite RHD giving a prevalence of 2.7/1000 [2.9/1000 in the peri-urban, 2.4/1000 in the urban area). Echocardiography detected RHD 10 times better than auscultation [echocardiography 11 (0.27%) vs. auscultation 1 (0.02%); P = 0.003]. The remaining 27 children with abnormal echocardiograms had congenital heart defects (CHD) giving a prevalence of 6.6/1000 for CHD, a yield higher than for RHD. CONCLUSION: Prevalence of RHD among school children in Lagos, South West Nigeria is low compared to other African countries, possibly due to better access to medical care and antibiotic treatment for infections. Our data provides evidence that RHD prevalence may vary substantially within sub-Saharan Africa, necessitating targeted population-based sampling to better understand disease burden and distribution. Further work is needed to compare within- and between-country RHD prevalence as a basis for programme planning and control efforts.

OBJECTIF: Le dépistage échocardiographique de la cardiopathie rhumatismale (CR) en Afrique a révélé des taux de prévalence compris entre 0,5 et 7,4%. Il n'existe pas de grande étude récente de population au Nigéria. L'objectif de l'étude était de déterminer la prévalence de la CR dans un grand échantillon d'écoliers nigérians. MÉTHODES: A l'aide d'une échocardiographie et d'une auscultation trans-thoraciques portables, des écoliers âgés de 5 à 16 ans de Lagos, au Nigeria, ont été soumis à un dépistage de la CR. Le diagnostic reposait sur les critères échocardiographiques de la Fédération Mondiale du Cœur de 2012. RÉSULTATS: Les 4.107 enfants testés avaient un âge moyen de 11,3 ans (DS = 2,6) et 2.206 (53,7%) étaient de sexe féminin. Il y avait des échocardiogrammes anormaux chez 38 enfants, dont 11 (0,27%) présentaient une CR, y compris deux cas de CR bien définie, donnant une prévalence de 2,7/1000 [2,9/1000 dans les zones périurbaines, 2,4/1000 dans les zones urbaines). L'échocardiographie a détecté une CR 10 fois mieux que l'auscultation [échocardiographie 11 (0,27%) contre auscultation 1 (0,02%); p = 0,003]. Les 27 enfants restants dont les échocardiogrammes étaient anormaux avaient une cardiopathie congénitale (CHD), ce qui donnait une prévalence de 6,6/1.000 pour les cardiopathies congénitales, donnant une prévalence de 6,6/1000, un rendement supérieur à celui de la CR. CONCLUSION: La prévalence de la CR parmi les écoliers à Lagos, dans le sud-ouest du Nigéria, est faible comparée à celle d'autres pays africains, probablement en raison d'un meilleur accès aux soins médicaux et au traitement antibiotique contre les infections. Nos données fournissent des preuves que la prévalence de la CR peut varier considérablement en Afrique subsaharienne, nécessitant un échantillonnage ciblé de la population pour mieux comprendre la charge et la répartition de la maladie. Des études supplémentaires sont nécessaires pour comparer la prévalence de la CR intra- et inter pays en tant que base des efforts de planification et de lutte des programmes.

Nutritional Assessment and Maternal Perception of Toddler Body Size using Toddler Silhouette Scale in Nigeria a Developing Country.

BACKGROUND AND OBJECTIVES: The toddler silhouettes scales have been validated in the caucascian population in developing countries but in the African population, the use of these scales is yet to be evaluated. The aim of this study was to determine the perception of mothers on the body size of toddlers using a validated scale in an African population. METHODS: This was a cross sectional study of 241 mothers and their toddlers. Study participants were recruited from the immunization and pediatric clinics. The mothers' perceptions of the body sizes of toddlers and their own child was determined with the use of a validated 7-scale toddler silhouette. Each mother also assessed their own child with the scale. Each child's anthropometry was documented. RESULTS: Majority of the mothers were able to correctly classify the underweight (95.0%) and overweight toddler silhouettes (95.7%). However, 30% of the respondents misclassified Silhouette 6 (overweight silhouette) as normal and 48.2% of the respondents misclassified a normal silhouette as underweight. The overall maternal accuracy in assessing their toddler size was 41.1%. There was a significant relationship between maternal accuracy and the maternal educational status, tribe, and toddler size. CONCLUSIONS AND GLOBAL HEALTH IMPLICATIONS: Toddler silhouette scales is a quick way of assessing the body size of children and could be of significant use in the developing countries. There is a need for caregivers to accurately assess the body size of their children as this will significantly influence the food mothers will give their children and thus children's eventual growth and development.

Clinical epidemiology of congenital heart disease in Nigerian children, 2012-2017.

BACKGROUND: Congenital heart diseases (CHDs) affect ~1% of newborns and are a significant cause of morbidity and mortality in children. We present the clinical epidemiology of CHD as seen in a large university medical center in Nigeria. METHODS: Participants were 767 children with echocardiographically confirmed CHD seen over a 5-year period at the Lagos University Teaching Hospital, Nigeria. RESULTS: Clinical presentation was often late with just over half (58.1%) presenting in infancy. The male:female distribution was 1:1. The predominant types of cardiac lesion seen were septal defects (43%), conotruncal defects (23.7%), atrioventricular septal defects (9.8%), and right ventricular outflow tract obstruction (7.3%). Cyanotic CHD was seen in 28.4% of cases and the single most common cyanotic CHD was Tetralogy of Fallot (13.4%). Children with cyanotic CHD were older (p = .002), had more severe lesions (p < .0001) and were more likely to have cardiac intervention (p < .0001). Extracardiac malformations were present in nearly one-third of the children. Syndromes associated with CHD were identified in 15.5% of the children and included Down syndrome (11.9%), congenital rubella syndrome (1.0%), and Marfan syndrome (0.7%). CONCLUSIONS: This study is a large case series of CHD from a single site in sub-Saharan Africa utilizing clinical, epidemiological, and developmental considerations. It provides a rich and up-to-date description of the clinical epidemiology of CHD in Nigerian children while yielding data that could be useful for designing genetic, molecular, and biomarker studies.