Prevalence Of Congenital Heart Disease Research Articles

Global prevalence of congenital heart disease in school-age children: a meta-analysis and systematic review

BackgroundCongenital heart disease (CHD) is the commonest birth defect. Studies estimating the prevalence of CHD in school-age children could therefore contribute to quantifying unmet health needs for diagnosis and treatment, particularly in lower-income countries. Data at school age are considerably sparser, and individual studies have generally been of small size. We conducted a literature-based meta-analysis to investigate global trends over a 40-year period.Methods and resultsStudies reporting on CHD prevalence in school-age children (4–18 years old) from 1970 to 2017 were identified from PubMed, EMBASE, Web of Science and Google Scholar. According to the inclusion criteria, 42 studies including 2,638,475 children, reporting the prevalence of unrepaired CHDs (both pre-school diagnoses and first-time school-age diagnoses), and nine studies including 395,571 children, specifically reporting the prevalence of CHD first diagnosed at school ages, were included. Data were combined using random-effects models. The prevalence of unrepaired CHD in school children during the entire period of study was 3.809 (95% confidence intervals 3.075–4.621)/1000. A lower proportion of male than female school children had unrepaired CHD (OR = 0.84 [95% CI 0.74–0.95]; p = 0.001). Between 1970–1974 and 1995–1999, there was no significant change in the prevalence of unrepaired CHD at school age; subsequently there was an approximately 2.5-fold increase from 1.985 (95% CI 1.074–3.173)/1000 in 1995–1999 to 4.832 (95% CI 3.425–6.480)/1000 in 2010–2014, (p = 0.009). Among all CHD conditions, atrial septal defects and ventricular septal defects chiefly accounted for this increasing trend. The summarised prevalence (1970–2017) of CHD diagnoses first made in childhood was 1.384 (0.955, 1.891)/1000; during this time there was a fall from 2.050 [1.362, 2.877]/1000 pre-1995 to 0.848 [0.626, 1.104]/1000 in 1995–2014 (p = 0.04).ConclusionsGlobally, these data show an increased prevalence of CHD (mainly mild CHD conditions) recognised at birth/infancy or early childhood, but remaining unrepaired at school-age. In parallel there has been a decrease of first-time CHD diagnoses in school-age children. These together imply a favourable shift of CHD recognition time to earlier in the life course. Despite this, substantial inequalities between higher and lower income countries remain. Increased healthcare resources for people born with CHD, particularly in poorer countries, are required.

Congenital heart defects in patients with isolated microtia: evaluation using colour Doppler echocardiographic image.

The objective of this study was to delineate the characteristics and incidence of congenital heart disease (CHD) in patients with isolated microtia and to determine whether the prevalence of CHD among patients with isolated microtia increases with the severity of microtia. A total of 804 consecutive patients had a pre-operative colour Doppler echocardiographic examination. A retrospective study was performed with the clinical and imaging data from November, 2017 to January, 2019. The χ2 test was performed to analyse the interaction between isolated microtia and CHD. With the colour Doppler echocardiographic examination's data from 804 consecutive isolated microtia patients, we found CHD, including atrial septal defect, ventricular septal defect, tetralogy of Fallot, patent ductus arteriosus, and others, occurred in 52 of 804 patients (6.5%). Atrial septal defect prevalence in patients with isolated microtia was significantly higher than ventricular septal defect (24/804 versus 11/804, p < 0.05) and patent ductus arteriosus (24/804 versus 2/804, p < 0.001). Ventricular septal defect prevalence in patients with isolated microtia was significantly higher than patent ductus arteriosus (11/804 versus 2/804, p < 0.05). All four types of microtia (concha-type microtia, small concha-type microtia, lobule-type microtia, and anotia) had similar incidences of CHD with no difference in the incidences among these types (p > 0.05 respectively). Furthermore, there was no significant difference in the incidence of the atrial septal defect among the four subtypes (p > 0.05 respectively). Similarly, ventricular septal defect and patent ductus arteriosus also showed no differences (p > 0.05 respectively). The overall incidences of CHD and three most common CHD subtypes (atrial septal defect, ventricular septal defect, and patent ductus arteriosus) in patients with isolated microtia are higher than general population. The prevalence of CHD among patients with isolated microtia does not increase with the severity of microtia. According to our experience in this study, we suggest colour Doppler echocardiographic imaging should be performed for isolated microtia patients soon after birth if possible. Furthermore, for the plastic surgeon and anaesthesiologist, it is important to take pre-operative colour Doppler echocardiographic images which can help evaluate heart function to ensure the safety of the peri-operative period. Future studies when investigating CHDs associated with isolated microtia could focus on genetic and molecular mechanisms.

Abstract 13291: Impact of VAD Support Duration on Pediatric Heart Transplant Outcomes

Introduction: There is wide variability in the timing of heart transplant (HT) listing and consideration of organ offers after ventricular assist device (VAD) implant in children. While some centers wait weeks or months before proceeding with HT, others accept donor hearts within days of VAD surgery. We sought to determine if HT within 30 days of VAD implant impacts post-HT outcomes when compared to HT after ≥30 days of VAD support. Methods: Patients on VAD support prior to HT were extracted from the Pediatric Heart Transplant Study database. The primary endpoints were post-HT length of hospital stay (LOS) and one-year survival. Confounding was addressed by propensity score weighting using inverse probability of treatment. Propensity scores were calculated based on age at VAD implant, blood type, primary cardiac diagnosis, decade, VAD type, and allosensitization status. Group balance was verified with standardized differences. Results: A total of 1138 children underwent VAD implant prior to HT between 2000-2019 (Table 1). Most underwent HT ≥30 days after VAD (71%). The majority (70%) had an LVAD alone. Infants accounted for 22% of both groups, while those 1-11 years were 46% of the ≥30-day group and patients ≥12 years made up 42% of &lt;30-day group (p=0.001). There was no difference in the prevalence of congenital heart disease vs. cardiomyopathy (p=0.7) or high allosensitization status (p=0.8) between groups. Post-HT LOS was similar between groups (23 vs. 21 days in &lt;30 vs. ≥30 days, p=0.07). One-year survival was 90.5% in the &lt;30-day group vs. 94.5% in ≥30 days (adjusted mortality HR 1.81, 95% CI 1.15-2.86, p=0.01). Conclusions: In this large study of children undergoing HT after VAD, we found lower one-year survival in patients on VAD support for &lt;30 days prior to HT compared to those on VAD for ≥30 days before HT. These findings suggest that a strategy of delayed HT listing following VAD implant may favorably impact post-HT survival in the pediatric population.

Advanced heart failure and transplant in congenital heart disease

### Learning objectives Due to advances in medical and surgical palliations, >90% of children born with congenital heart disease (CHD) are expected to survive into adulthood.1 2 Recent studies estimate...

GENETIC PERSPECTIVE OF THE CONGENITAL HEART DISEASE

GENETIC PERSPECTIVE OF THE CONGENITAL HEART DISEASE

Clinical spectrum and prevalence of congenital heart disease in children in Botswana.

Reliable data on congenital heart disease (CHD) from diverse settings is important both for planning health systems in each country and to elucidate possible aetiologies of CHD in different settings. There is a lack of data on the clinical spectrum and prevalence of CHD in Botswana. The aim of this study was to describe the clinical spectrum and prevalence of CHD in Botswana. This was a retrospective, descriptive, cross-sectional study of all children from birth to 15 years who had had an echocardiogram performed as an in- or out-patient at Princess Marina Hospital (PMH) between 1 January 2010 and 31 December 2012. Of 377 enrollees, 140 (40%) had normal echocardiographs, 170 (45%) had CHD, and 57 (15%) had an acquired lesion. In the CHD patients, median age was 0.9 years (Q1: 0.2, Q3: 4.1) and 85 (50%) were male. Ventricular septal defect (VSD) (29%), patent ductus arteriosus (18%), atrio-ventricular septal defect (AVSD) (10%) and tetralogy of Fallot (TOF) (6%) were the predominant pathologies. VSD was the most common acyanotic lesion and TOF the most common cyanotic lesion. The estimated prevalence of CHD was between 2.8 and 4.95 per 1 000 live births. The clinical spectrum of CHD in Botswana is similar to that observed in other African countries and in the Western world, with VSD the most common acyanotic lesion and TOF the most common cyanotic lesion. The prevalence of CHD was 2.8-4.95 per 1 000 live births, in keeping with other settings. This is the first study to describe CHD in Botswana, and it aimed to stimulate subsequent studies in this field.

The association between congenital heart disease and small for gestational age with regard to the prevalence and outcomes.

To evaluate the association between small for gestational age (SGA) and the prevalence of congenital heart disease (CHD) and the association of the SGA status with the outcomes among infants with CHD. Echocardiography was performed within the first 5days of life in 5664 consecutive infants. Infants were classified into four groups according to the presence or absence of SGA and CHD. All CHD infants were followed up until either spontaneous resolution of all cardiac lesions, invasive intervention or death. All newborns without CHD were followed for mortality until the final follow-up date. A total of 303 infants were diagnosed with CHD, while 610 were diagnosed with SGA. Among the CHD infants, 56 were SGA, and 247 were not. A multivariable logistic regression analysis showed that the adjusted odds ratio of SGA (9.71, P<.001) was significantly higher than that of other parameters concerning predictors of invasive intervention or death. The mortality rate in the presence of both SGA and CHD (hazard ratio: 33.6, P<.001) was markedly higher than in the absence of both. SGA was a significant predictor of invasive intervention for CHD. The combination of CHD and SGA carried a high risk of death beyond that of either alone.

Prevalence and Outcomes of Congenital Heart Disease in Very Low Birth Weight Preterm Infants: An Observational Study From the Brazilian Neonatal Network Database.

To evaluate the prevalence of congenital heart disease and their outcomes in a Brazilian cohort of very low birth weight preterm infants. Post hoc analysis of data from the Brazilian Neonatal Network database, complemented by retrospective data from medical charts and a cross-sectional survey. Twenty public tertiary-care university hospitals. A total of 13,955 newborns weighing from 401 to 1,499 g and between 22 and 36 weeks of gestational age, born from 2010 to 2017. None. The prevalence of congenital heart disease was 2.45% (95% CI, 2.20-2.72%). In a multivariate regression analysis, risk factors associated with congenital heart disease were maternal diabetes (relative risk, 1.55; 95% CI, 1.11-2.20) and maternal age above 35 years (relative risk, 2.09; 95% CI, 1.73-2.51), whereas the protection factors were maternal hypertension (relative risk, 0.54; 95% CI, 0.43-0.69), congenital infection (relative risk, 0.45; 95% CI, 0.21-0.94), and multiple gestation (relative risk, 0.73; 95% CI, 0.55-0.97). The pooled standardized mortality ratio in patients with congenital heart disease was 2.48 (95% CI, 2.22-2.80), which was significantly higher than in patients without congenital heart disease (2.08; 95% CI, 2.03-2.13). However, in multiple log-binomial regression analyses, only the presence of major congenital anomaly, gestational age (< 29 wk; relative risk, 2.32; 95% CI, 2.13-2.52), and Score for Neonatal Acute Physiology and Perinatal Extension II (> 20; relative risk, 3.76; 95% CI, 3.41-4.14) were independently associated with death, whereas the effect of congenital heart disease was spotted only when a conditional inference tree approach was used. The overall prevalence of congenital heart disease in this cohort of very low birth weight infants was higher and with higher mortality than in the general population of live births. The occurrence of a major congenital anomaly, gestational age (< 29 wk), and Score for Neonatal Acute Physiology and Perinatal Extension II (> 20) were significantly and independently associated with death, whereas the association of congenital heart disease and death was only evident when a major congenital anomaly was present.

Perspectiva da terapia com alprostadil na cardiopatia congênita: foco no neonato

A Cardiopatia Congênita se apresenta como uma variedade de anormalidades na anatomia e/ou função cardíaca e pode ser classificada como acianótica ou cianótica. O tratamento dessa patologia se dá inicialmente pela estabilização dos sintomas, através da suplementação de oxigênio e a administração de medicamentos, como por exemplo, o alprostadil, visando melhorar a qualidade de vida dos pacientes e prepará-los para correção cirúrgica. O objetivo desse trabalho foi traçar o perfil do uso do alprostadil em pacientes neonatos com cardiopatia congênita. Trata-se de um estudo descritivo, transversal, retrospectivo e com abordagens quantitativas, realizado em um hospital terciário da rede pública do Estado do Ceará. Foram avaliados 79 prontuários de pacientes no período de janeiro de 2015 a setembro de 2019 que fizeram uso de alprostadil com diagnóstico ou não de cardiopatia congênita. Observou-se que o perfil de neonatos que utilizaram o alprostadil foi de 12,7 dias de vida, peso médio de 2712,8g, classificados adequadamente quanto ao peso e a idade gestacional. A prevalência de cardiopatia congênita foi maior no sexo masculino, cor parda e RN a termo. O cateter de inserção periférica e a ventilação mecânica induzida foram as formas de acesso e oxigenação mais utilizadas. O ecocardiograma foi realizado em 86% dos recém-nascidos, notificando 78% das cardiopatias cianogênicas. Conclui-se que o uso do alprostadil possui segurança e eficácia, entretanto sozinho não é suficiente para aumentar os dias de vidas dos pacientes neonatos com cardiopatia complexa/múltipla, visto a severidade das alterações.

The commencement of congenital heart diseases registry in Isfahan, Iran: Methodology and design.

BACKGROUNDReported prevalence of congenital heart diseases (CHDs) varies widely among studies worldwide. The incidence of CHD, total number of pediatric and adult grown-up congenital heart disease (GUCH), is not determined in Iran. Therefore, we have designed a system to register the information of patients with CHD for the first time in our country.METHODSCHD registry is a database in which the patients' data are collected by five pediatric cardiologists from three referral hospitals affiliated to Isfahan University of Medical Sciences, Isfahan, Iran, and five outpatient clinics. We enrolled patients with CHD either as new cases who were referred for evaluation of potential CHD or those who were being followed within the outpatient clinics and entered their whole information in a website specifically designed for it. All the information was collected from checklist by those pediatric cardiologistsRESULTSFrom April 2017 to April 2020, after developing the forms and website, the Quality Control Committee evaluated the first 558 files. 73 files (13%) needed major revisions. Among them, 34 (46%) files were omitted totally and the 39 remaining files were revised and completed. After that revision, we changed our checklist and gathered about 1600 patients accordingly.CONCLUSIONRegistry of CHDs not only improves epidemiologic studies but also assists researchers to understand how much a disease management is useful and how to raise the quality of cares and outcomes. Moreover, this provides a better insight for policymakers to understand the extent of health-related problems as well as the issues related to the prevention and management of CHDs all around the world.

The association of maternal hypertensive disorders with neonatal congenital heart disease: analysis of a United States cohort.

To examine the association of any type of maternal hypertensive disorders of pregnancy (HDP) and neonatal congenital heart diseases (CHD). We compared the prevalence of CHD between neonates born to mothers with HDP to those delivered to mothers without HDP among 24,525,889 hospital records of living infants, from a national database. We controlled for multiple confounding factors by using multiple logistic regression analysis. Infants delivered to mothers with HDP had higher prevalence of CHD compared to infants born to mothers without HDP [5.20% vs. 1.47%; aOR: 2.51(2.38-2.64), p < 0.001]. Maternal diabetes was more frequent among infants born to mothers with HDP and was independently associated with CHD [aOR 5.14 (5.04-5.23), p < 0.001]. Infants born to mothers with hypertension had almost a threefold increase in CHD compared with those born to mothers without hypertension. Further studies are needed to investigate the underlying mechanism and direction of this association.

Study the universal critical congenital heart disease screening in a peripheral area of Uttarakhand, India

Background: Congenital heart disease (CHD) is the most frequently occurring congenital disorder, responsible for 28% of all congenital birth defects. The birth prevalence of CHD is reported to be 8-12/1000 live births. Considering a rate of 9/1000, about 1.35 million babies are born with CHD each year globally. Objective of research work to study the prevalence of CHD among newborn and its types.Methods: This cross-sectional study was carried among 34 cases of CHD/5126 newborn screened at 4 birthing places in Kashipur a small town in Uttrakhand at pediatrics department of Sahota Super-specialty hospital, Kashipur, Uttarakhand. Screening program between 22 August 2014, and March 30, 2019. All newborns, including preterm babies, delivered in these facilities were eligible for inclusion in this study.Results: Present study found the prevalence of CHD was 0.7 per 1000 children (34/5126). Around 26.5% participants have cyanotic CHD and 73.5% have acynotic CHD. Almost 44%, 28%, 20%, 4% and 4% participants of acynotic congenital heart diseases have VSD, ASD, PDA, AVSD and valvular PS respectively and 55.6%, 22.2%, 11.1% and 11.1% participants of cynotic congenital heart diseases have TOF, DORV/VSD, dTGA/VSD and tricuspid atresia respectively.Conclusions: Screening for congenital heart disease should be included as a part of newborn assessment as it is a common congenital problem. Early identification influences outcome. Barriers in implementation of the screening programmes in resource limited setting is a challenging feature. This study can provide observed data that can help in policy making in the health sector.

Role of routine fetal echocardiography in an unselected group of pregnant women for prenatal detection of cardiac malformations

ObjectivesWe investigated the potential for improvement in prenatal detection of congenital heart disease (CHD) by routinely performing detailed fetal echocardiography (FE) in all pregnant women. MethodsFollowing routine obstetric sonography, 1445 unselected pregnant women were prospectively subjected to FE at gestational ages between 16 and 24 weeks, or at first visit, if they presented later. Maternal or fetal factors, conventionally known to be associated with risk of CHD, were noted.The prevalence and detection rates of cardiac abnormalities were determined, and confirmation of findings by postnatal follow-up was done to ensure accuracy of FE. Prevalence of CHD was compared in pregnancies with or without conventional risk factors. ResultsThe overall prevalence of CHD was 8.3 per 1000; only 2 CHD cases belonged to the high maternal risk group, while 10 cases were observed without maternal risk factors. Cardiac malformations were suspected in 14 fetuses during obstetric scan; but, only 5 of them had CHD, remaining 9 had structurally normal hearts. 50% of CHD cases occurred in pregnancies not associate with any (fetal or maternal) risk factor. The sensitivity, and specificity for prenatal CHD detection were 91.7% and 100% respectively. ConclusionsOur study indicates that a substantial proportion of CHD cases occur in women not having high risk of giving birth to children with CHD. FE is a highly sensitive and specific test with strong predictive values. We recommend that FE should be done in every pregnancy.

Epidemiological study of congenital heart diseases in dogs: Prevalence, popularity, and volatility throughout twenty years of clinical practice.

The epidemiology of Congenital Heart Diseases (CHDs) has changed over the past twenty years. This study aimed to evaluate the prevalence of CHDs in the population of dogs recruited in a single referral center (RC); compare the epidemiological features of CHDs in screened breeds (Boxers) versus non-screened (French and English Bulldogs, German Shepherds); investigate the association of breeds with the prevalence of CHDs; determine the popularity and volatility of breeds over a 20-year period; analysed the trends of the most popular breeds in the overall population of new-born dogs registered in the Italian Kennel Club (IKC) from 1st January 1997 to 31st December 2017. The RC’s cardiological database was analysed, and 1,779 clinical records were included in a retrospective observation study. Descriptive statistics and frequencies regarding the most representative breeds and CHDs were generated. A logistic regression model was used to analyse the trends of the most common CHDs found in single and in cluster of breeds. The relationship between breed popularity and presence of CHDs was studied. The most common CHDs were Pulmonic Stenosis, Patent Ductus Arteriosus, Subaortic Stenosis, Ventricular Septal Defect, Aortic Stenosis, Tricuspid Dysplasia, Atrial Septal Defect, Double Chamber Right Ventricle, Mitral Dysplasia, and others less frequent. The most represented pure breeds were Boxer, German Shepherd, French Bulldog, English Bulldog, Maltese, Newfoundland, Rottweiler, Golden Retriever, Chihuahua, and others in lower percentage. Chihuahuas, American Staffordshire Terriers, Border Collies, French Bulldogs, and Cavalier King Charles Spaniel were the most appreciated all of which showed a high value of volatility. This study found evidence for the value of the screening program implemented in Boxers; fashions and trends influence dog owners’ choices more than the worries of health problems in a breed. Effective breeding programs are needed in order to control the diffusion of CHDs without impoverishing the genetic pool.

Congenital Heart Disease Prevalence in Portugal in 2015: Data from the National Register of Congenital Anomalies

The prevalence at birth of congenital heart disease in Portugal is 8.3/1000 births; undetected critical congenital heart disease may result in adverse outcomes for the fetus/newborn infant. This study describes the reported cases of congenital heart disease in Portugal in 2015 regarding antenatal diagnosis, cardiac defect, and presence of other congenital anomalies/chromosomal abnormalities. These indicators are compared in live births and medical pregnancy terminations. Additionally, postnatal deaths were characterized. Congenital heart disease data derived from the 2015 Portuguese National Registry of Congenital Birth Defects were analyzed. The prevalence rates per 1000 births were assessed by the chi-square test of independence. The prevalence of congenital heart disease in this study was 5/1000 live-births (339 live-births, 20% with critical defects). The most common defects were ventricular septal defect (38%), atrial septal defect (15%), aortic coarctation (7%), tetralogy of Fallot (7%) and pulmonary stenosis (5%). One third of the live births had antenatal diagnosis of congenital heart disease. In the live-births with critical congenital heart disease, 54% had antenatal diagnosis and 14% were diagnosed at birth. There were records of 84 pregnancy terminations; 49% had critical defects, 75% had non-cardiac congenital anomalies and 40% had chromosomal abnormalities. There were 15 postnatal deaths recorded (3.4% mortality rate), associated with prematurity/low birthweight, critical congenital heart disease, other non-cardiac congenital anomalies and chromosomal abnormalities. The data analysis revealed a prevalence of congenital heart disease in this study of 5/1000 births (inferior to other international studies), with a distribution per type of anomaly similar to that reported in previously published work. There were significant regional differences that need further studying. These results are paramount to characterize the Portuguese scenario and improve Healthcare planning. It is important to improve reporting in the Portuguese National Registry of Congenital Birth Defects.

Frequency of Congenital Heart Disease in Neonates with Extra Cardiac Anomalies

Background Diagnosis of congenital heart disease (CHD) in neonates with extra cardiac anomalies is effective in their clinical management and surgical outcomes. This study aimed to investigate the frequency of CHD in neonates with extra cardiac anomalies admitted to a neonatal intensive care unit (NICU). Materials and Methods This retrospective, descriptive study included all neonates with extra cardiac anomalies admitted to the NICU of Ali Ibn Abitaleb Hospital in Rafsanjan, Iran, from March 2016 until the end of September 2018. Data were collected through a researcher-designed checklist including demographic and disease information for neonates and their parents. The checklist was filled out according to the neonates’ medical records. Moreover, CHD was diagnosed using echocardiography. Finally, the data were analyzed using SPSS version 18. Results From the 58 neonates, 35 (60.35%) were boys and 23 (39.65%) were girls. The mean age of the neonates was 5.27±6.9 days. The prevalence of CHD in neonates with extra cardiac anomalies was 37.25% (n=19). The most prevalent CHD anomaly was PDA with a rate of 78.9%. The highest prevalence of CHD was associated with musculoskeletal (50%, n=6 from 12), and genitourinary (43.8%, n=7 from 16) abnormality, respectively. There was no statistically significant difference between the CHD and non-CHD neonates in terms of neonatal gender and parental characteristics. Conclusion This study shows that 37.25% of neonates with extra cardiac anomalies have CHD anomalies; thus, it is recommended to refer all neonates with extra cardiac anomalies for cardiac examination.

Evaluation of the prevalence and distribution of congenital heart diseases who presented to a pediatric cardiology outpatient clinic

Introduction: The present study aimed to determine the prevalence and distribution of congenital heart disease in patients who presented to the paediatric cardiology outpatient clinic in Turkey. Methods: File records of the children who underwent transthoracic echocardiography within the 3-year period between January 2013 and December 2015 at the paediatric cardiology outpatient clinic were retrospectively evaluated. Congenital heart diseases were grouped as follows: diseases with a left-to-right shunt, obstructive diseases, cyanotic diseases, cardiac malposition, vascular ring and unclassified diseases. Prevalence of the diseases, distribution among gender and age groups were investigated. Results: This study included 12,342 subjects; 6996 (56.7%) subjects were male and 5346 (43.3%) subjects were female. The subjects were aged between 1 day and 18 years, and the mean age was 6.86 ± 5.39 years; 27.7% of the subjects were determined to have congenital heart disease. The prevalence of congenital heart disease was higher in males and in the 0–1 month age group. Of the subjects with congenital heart disease, 87% had a disease with a left-to-right shunt, 21.2% had an unclassified disease, 7% had obstructive disease, 1.6% had cyanotic disease, 0.8% had a vascular ring and 0.7% had cardiac malposition. Conclusion: We recommend performing echocardiography on patients presenting to a paediatric cardiology outpatient clinic. Conducting echocardiographic examination on new-borns who are referred to the paediatric cardiology department within the first month of life would enable detecting, particularly the diseases with a left-to-right shunt and cyanotic congenital heart diseases, and ensure timely treatment planning.

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

BackgroundCongenital 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.MethodsThis 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.ResultsA 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.ConclusionThe 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.

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.