Family History Of Congenital Heart Disease Research Articles

Newborn Pulse Oximetry Screening for Detecting Congenital Heart Disease: Experience at a Tertiary Care Center.

Congenital heart disease (CHD) remains the number one birth defect worldwide. Pulse oximetry screening (POS) is a widely used CHD screening modality effective in detecting critical lesions. This study is aimed at assessing the accuracy and cost-effectiveness of POS in a cohort of term well-babies admitted to a regular nursery in a tertiary care center. We reviewed the charts of term babies admitted to our regular nursery over a period of one year. The results of POS and the findings of echocardiography were collected. Similarly, we explored the records of our fetal echocardiography program to identify the fetuses screened for CHD during the same period. 900 term babies were born and admitted to newborn nursery at our center, and 69 fetuses were evaluated by our fetal cardiology team during the study period. None of our term babies had a positive POS at birth or 24 hours of age. However, 56 babies had a cardiac echo before hospital discharge due to suspicious findings on physical examination or a family history of CHD. A simple noncritical CHD was noted in 10 of them. Additionally, 53 babies underwent echocardiography within the first five years of life; a simple CHD was noted in 6 of them. In parallel, 21 of our fetuses were found to have CHD: 16 simple CHD and 5 critical CHD (CCHD). Despite its cost-effectiveness and efficacy in screening for CCHD, POS is suboptimal for detecting simple CHD. In the absence of a proper prenatal screening and fetal echocardiography program, POS remains a cost-effective modality for detecting CCHD.

Abstract 13945: Evaluation of a Deep Neural Network for Detection of D-Transposition of the Great Arteries on Fetal Echocardiograms

Introduction: While prenatal detection of congenital heart disease (CHD) has improved over the years, a significant proportion of CHD remains unrecognized on fetal ultrasound. Prenatal identification of d-transposition of the great arteries (d-TGA) in particular would significantly alter delivery planning and postnatal course. Research Questions: We investigated whether a deep neural network (DNN) can accurately detect d-TGA on fetal echocardiograms. Aim: To evaluate a DNN for detection of d-TGA on second (2T) or third (3T) trimester fetal echocardiograms. Methods: Patients with a singleton pregnancy with a 2T or 3T fetal echocardiogram performed between Jan 1, 2022 and May 1, 2023 at one center were retrospectively evaluated. Cases of d-TGA and negative cases referred for family history of CHD or increased nuchal translucency were included. Cases were reviewed by 3 pediatric cardiologists to confirm that the recorded ultrasound clips were sufficient to diagnose the presence or absence of d-TGA, and were excluded otherwise. The DNN was trained on patients not included in the evaluation to detect the absence of the great artery cross-over pattern, a distinct finding in d-TGA. The DNN outputs the presence or absence of this finding using all recorded video clips of an examination. Results: We included 18 positive and 99 negative cases. The DNN detected suspicion for d-TGA with an AUC of 91.4%, sensitivity of 83.3% (60.8-94.2, 95%CI) and specificity of 92.9% (86.1-96.5, 95%CI). Conclusions: D-TGA can be accurately detected on fetal echocardiograms using a DNN. These promising results lay the foundation for reliable, computer-aided detection of CHD on screening fetal ultrasounds.

Epidemiological and clinical aspects of congenital heart disease in Fallujah Maternity and Children Hospital, Iraq

Objective: This study aimed to analyze the descriptive characteristics of children diagnosed with Congenital Heart Disease (CHD) at Fallujah Maternity and Children Hospital (FMCH).
 Methods: The prospective study included 1,025 pediatric patients born between 1st December 2018 and 30th September 2022, admitted to the newborns and children's wards, and diagnosed with CHD. Data were collected through interviews with patients' guardians using a registration and questionnaire form, capturing variables related to the child (e.g., name, sex, birth weight, type of CHD) and the mother (e.g., age, occupation, consanguinity, previous CHD births, chronic diseases during pregnancy). Residence (rural or urban) was also recorded.
 Results: Among the CHD cases, Atrial Septal Defect (ASD) was the most common (72%), followed by Ventricular Septal Defect (VSD) (25%) and Patent Ductus Arteriosus (PDA) (21%). Most diagnoses occurred in children aged 1-28 days. The male-to-female ratio was 1.2:1, and 0.2% had an ambiguous gender. About 58% of children weighed ≥ 2.5kg at birth, and 20% had a family history of CHDs.
 Conclusion: The increasing prevalence of congenital heart diseases in Fallujah requires preventive strategies targeting modifiable risk factors, better monitoring of high-risk pregnancies, and increased awareness of genetic counseling for families with congenital anomalies. The cardiology department should receive more attention and resources to improve diagnostic and therapeutic capabilities. Further research is needed to understand the reasons behind the recent rise in CHD cases in newborns.

Parental risk factors associated with congenital heart disease in a Thai population: multivariable analysis.

Congenital heart diseases (CHDs) are the most common types of birth defects and contribute to a large proportion of infant morbidities and mortalities worldwide. These defects may require multiple surgical interventions impacting the infant's quality of life. To identify risk factors associated with CHD in a population of Thai children. We conducted a case-control study of patients attending the Pediatric Clinic, Naresuan University Hospital, Thailand. We included data from pediatric patients diagnosed with CHDs as cases, and patients without cardiovascular abnormalities as controls. Risk data were collected from July 2019 to April 2020 using face-to-face interviews. Multiple logistic regression was used to analyze parental factors associated with CHDs. We included 249 cases classified into 2 groups according to severity and 304 patients as controls. For those less-severely affected (155 patients, 62.2%), ventricular septal defect (27.7%) was the most prevalent, whereas for those with severe CHDs, tetralogy of Fallot was the most prevalent (14.0%). There was no difference in sex distribution or maternal obstetric history between the groups. In multivariable analysis, a family history of CHDs (adjusted odds ratio [AOR] 4.67, 95% confidence interval (CI) 1.61-13.57, P = 0.005) and maternal exposure to second-hand cigarette smoke (AOR 1.58, 95% CI 1.03-2.42, P = 0.002) were identified as significant risk factors for CHDs. A family history of CHDs and maternal exposure to second-hand cigarette smoke are associated with having offspring with CHDs in the population studied. These findings help us to encourage affected parents to obtain a fetal echocardiogram.

The diagnostic value of the early extended fetal heart examination at 13 to 14 weeks gestational age in a high-risk population.

BackgroundCongenital heart disease (CHD) is the most common congenital malformation that affects high-risk populations. A more definite heart diagnosis in the first trimester should be provided to guide clinical treatment. The study aim was to evaluate the diagnostic precision of the early extended fetal heart examination (EFHE) that includes abdominal situs view, four-chamber view (4CV), left ventricular outflow tract view (LVOT), right ventricular outflow tract view (RVOT), 3-vessel and tracheal view (3VT), ductal arch view, and the aortic arch view in the detection of CHD at the gestational age (GA) 13 to 14 weeks in a population with high risks.MethodsThis study was a diagnostic test study. EFHE was performed by transabdominal sonography in women at GA 13 to 14 weeks with singleton pregnancies who were at high risk for CHD. The risk of CHD was determined by family history of CHD, rubella infection, metabolic disorders, exposure to teratogens, conception by in-vitro fertilization (IVF), increased nuchal translucency (NT) thickness, abnormal obstetric ultrasound, etc. The operator had more than 5 years of experience in first-trimester scans and fetal echocardiography. Early scans were compared with a fetal echocardiography in the second trimester (16–24 weeks).ResultsEFHE was performed, and the pregnancy outcomes were obtained in 234 single pregnancies with a high risk of CHD. The average crown-rump length (CRL) was (76.17±7.09) mm. CHD was diagnosed in 43 cases by EFHE; 10 of these cases were misdiagnosed, and 2 cases were missed. Four cases were inconsistent in the main diagnosis of CHD. The sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and kappa coefficient (Ko) value of EFHE in diagnosing CHD by type and severity was 84.6% [95% confidence interval (CI), 69.5–94.1%], 96.9% (95% CI, 93.4–98.9%), 84.6% (95% CI, 69.5–94.1%), 96.9% (95% CI, 93.4–98.9%), and 0.82 (P<0.001), respectively.ConclusionsEFHE can work as a diagnose examination for most major CHD cases at GA 13 to 14 weeks by an experienced operator; Therefore, this diagnostic system for fetal CHD may be applied in the first trimester. The study has been registered in the Chinese Clinical Trial Registry (www.chictr.org.cn). The registration number is ChiCTR2000038451.

Incidence and risk factors of congenital heart disease in Qingdao: a prospective cohort study

BackgroundMany studies have been conducted to assess the incidence of congenital heart disease (CHD). However, results were greatly inconsistent among these studies with a broad range of findings.MethodsA prospective census-based cohort study was conducted in Qingdao, China, from August 1, 2018 to April 30, 2019. All of the local registered pregnant women were continuously investigated and followed from 15 to 20 weeks of gestation to delivery, tracking the CHD cases in both the fetal and neonatal stages. A logistic regression model was applied to assess the association between CHD and possible risk factors.ResultsThe positive rate of prenatal CHD screening was 14.36 per 1000 fetuses and the incidence of CHD was 9.38 per 1000 live births. Results from logistic regression indicated that, living in the countryside (odds ratio, (OR): 0.771; 95% confidence interval, (CI): 0.628–0.946) and having a childbearing history (OR: 0.802; 95%CI: 0.676–0.951) were negatively associated with CHD. However, twin pregnancy (OR: 1.957, 95% CI: 1.245–3.076), illness in the first trimester (OR: 1.306; 95% CI: 1.048–1.628), a family history of CHD (OR: 7.156; 95% CI: 3.293–15.552), and having a child with a birth defect (OR: 2.086; 95% CI: 1.167–3.731) were positively associated with CHD.ConclusionCHD is a serious health problem in Qingdao. The CHD incidence found in this study was similar to existing research. The positive rate of prenatal CHD screening was higher than the incidence of neonatal CHD. Moreover, CHD risk factors were identified in our study, and our findings may have great implications for formation CHD intervention strategies.

The Predisposing Risk Factors for Non-syndromic Congenital Heart Disease: A Case-Control Study

Objectives: Despite the importance of congenital heart disease (CHD) in the population, the risk factors predisposing infants to be born with non-syndromic CHD are not well understood yet. Materials and Methods: In a case-control study, we recruited consecutive 109 infants with non-syndromic CHD who were referred to our pediatric cardiac care clinic and then compared them with 117 infants without CHD (2015-2016). Paternal, maternal, and neonatal demographic information, maternal past medical history, and antenatal history were recorded for each child. To investigate the potential risk factors for developing CHD, infants with and without CHD were compared in terms of study variables. In a second analysis, preterm infants were excluded and term infants were compared regarding the study variables. Results: The findings revealed that higher maternal and paternal education were both associated with a lower risk of CHD (odds ratio [OR]: 0.47, 95% confidence interval [CI]: 0.24-0.93, P=0.031, and OR: 0.45, 95% CI: 0.23-0.89, P=0.023, respectively). The family history of CHD in the first- or second-degree relatives of infants was significantly associated with CHD (OR: 3.56, 95% CI: 1.35-9.40, P=0.007). Several parameters were more prevalent in the CHD group, including having lower birth weight, having preterm birth, being the fourth birth order or higher, and not receiving maternity care under the supervision of a gynecologist. However, higher birth order and lower birth weight were not associated with CHD in exclusively term infants. Finally, a higher maternal educational level was related to lower CHD in term infants even after adjusting for a family history of CHD and preconception diabetes mellitus (OR: 5.45, 95% CI: 1.71-17.37, P=0.004). Conclusions: Our study findings demonstrate the need for a more enhanced primary care program, especially in patients with poor financial status and a family history of CHD.

Factors Associated with Congenital Heart Diseases among Children in Uganda: A Case-Control Study at Mulago National Referral Hospital (Uganda Heart Institute)

Congenital Heart Diseases (CHD) are among the leading causes of morbidity and mortality associated with congenital malformations among children. Not knowing the risk profile of CHD among children in Uganda impedes development of effective prevention interventions. In this hospital based unmatched case-control study we examined risk factors for all types of CHD among 179 pair of case and control children aged 0-10 years old at Mulago National Referral Hospital. Odds ratios and their corresponding 95% confidence intervals were calculated using multivariate logistic regression. Low birth weight (adjusted OR: 3.15, 95% CI 1.48 - 6.69), high birth order ≥5^th birth order (adjusted OR: 3.69 (1.10 – 12.54), maternal febrile illness during pregnancy, maternal and paternal alcohol consumption, and paternal socio-economic status were associated with CHD. Family history of CHD, maternal education level, maternal chronic illness, and paternal education level were not associated with CHD. The results suggest: low birth weight, high birth order, and maternal febrile illness during pregnancy, parental alcohol use and paternal socio-economic status as dominant risk factors for CHD among children. Rigorous implementation of public health policies and strategies targeting prevention of febrile illness during pregnancy, maternal malnutrition, parental alcohol consumption, delivery of high number of children per woman, might be important in reducing the burden of CHD among children in Uganda.

Regional Brain Growth Trajectories in Fetuses with Congenital Heart Disease.

Congenital heart disease (CHD) is associated with abnormal brain development in utero. We applied innovative fetal magnetic resonance imaging (MRI) techniques to determine whether reduced fetal cerebral substrate delivery impacts the brain globally, or in a region-specific pattern. Our novel design included two control groups, one with and the other without a family history of CHD, to explore the contribution of shared genes and/or fetal environment to brain development. From 2014 to 2018, we enrolled 179 pregnant women into 4 groups: "HLHS/TGA" fetuses with hypoplastic left heart syndrome (HLHS) or transposition of the great arteries (TGA), diagnoses with lowest fetal cerebral substrate delivery; "CHD-other," with other CHD diagnoses; "CHD-related," healthy with a CHD family history; and "optimal control," healthy without a family history. Two MRIs were obtained between 18 and 40 weeks gestation. Random effect regression models assessed group differences in brain volumes and relationships to hemodynamic variables. HLHS/TGA (n = 24), CHD-other (50), and CHD-related (34) groups each had generally smaller brain volumes than the optimal controls (71). Compared with CHD-related, the HLHS/TGA group had smaller subplate (-13.3% [standard error = 4.3%], p < 0.01) and intermediate (-13.7% [4.3%], p < 0.01) zones, with a similar trend in ventricular zone (-7.1% [1.9%], p = 0.07). These volumetric reductions were associated with lower cerebral substrate delivery. Fetuses with CHD, especially those with lowest cerebral substrate delivery, show a region-specific pattern of small brain volumes and impaired brain growth before 32 weeks gestation. The brains of fetuses with CHD were more similar to those of CHD-related than optimal controls, suggesting genetic or environmental factors also contribute. ANN NEUROL 2021;89:143-157.

Sensitivity, specificity, and accuracy of fetal echocardiography for high-risk pregnancies in a tertiary center in Egypt

BackgroundAdvances in fetal echocardiography training among pediatric cardiologists have led to substantial improvements in prenatal detection of congenital heart diseases (CHDs). Nevertheless, diagnostic accuracy varies among centers. Moreover, this subspecialty continues to evolve in developing countries, with limited studies assessing fetal echocardiography sensitivity, specificity, and accuracy in developing countries such as Egypt. Subject and methodsHigh-risk pregnancies referred for fetal echocardiography from January 2011 to January 2019 were analyzed retrospectively. All of the cases included had one of the high-risk indications for fetal echocardiography. Maternal age and gestational age at the prenatal diagnosis were determined, and detailed fetal and neonatal echocardiograms were documented. The results of fetal and postnatal echocardiography were compared to assess the sensitivity, specificity, and accuracy of fetal echocardiography. A minor lesion was defined when no postnatal intervention was needed and a major anomaly when postnatal cardiac therapy, surgery, or intervention was required. ResultsOut of 615 pregnant patients referred, comparisons between fetal and neonatal echocardiography were possible in 458 fetuses, with 157 patients excluded from the study. The mean maternal age in the study was 26.97±5.871 years and the mean gestational age at referral was 27.24±5.407 weeks. The most common indication for prenatal echocardiography in this cohort was a family history of CHD (142; 31%) followed by nonimmune hydrops (97; 21.18%) and abnormal obstetrical ultrasound screening (64; 13.97%). We had three false-positive minor diagnoses and four false-negative cases with only one requiring intervention. Prenatal diagnosis in this study was accurate in 98.47% of cases. The sensitivity, specificity, and accuracy of fetal echocardiography in the current work were 97.03%, 99.07%, and 98.47, respectively. ConclusionFetal echocardiography is considered a highly sensitive specific tool for prenatal detection of congenital heart diseases in high-risk pregnancies even in developing countries. However, minor fetal cardiac disorders are challenging to diagnose and family counseling should emphasize the difficulty of excluding or confirming such lesions.

Fetal Echocardiography Indications: A Single- Center Experience

Background Congenital heart disease (CHD) is the most common lethal congenital anomaly. Early diagnosis of CHD by fetal echocardiography based on maternal and fetal indications is important and lifesaving. The aim of study was to assess the referral aspects of pregnant women to pediatric cardiologist. Materials and Methods This was a retrospective cross-sectional study on 250 documents of referred pregnant women, which was conducted in Imam Reza hospital (Mashhad city, Iran) from 2012 to 2017. Relevant factors of referral to pediatric cardiologist were assessed in an unselected population of pregnant women, mostly based on guideline indications. Data were analyzed using SPSS software version 16.0. Results From 250 fetuses 59.8% were male. The most common reasons of referral were abnormal ultrasonography and family history of CHD with 83% and 28.8 %, respectively, which were referred mostly by gynecologist (53.7%). Fetuses were mostly singleton (98. 8%). Five and six percent had associated extra-cardiac anomalies, mostly central nervous system and renal disorders. The mean age of referred pregnant women was 31.5+5.14 years. The mean age of gestation was 24.5+ 6.09 weeks. Seventy-one cases (28.4 %) have similar history in prior children. Conclusion Timely referral to pediatric cardiologist as an extraordinary benefit for pregnant women and also ongoing follow- up for the baby is requires an organized observation. Assessment and comparison with universal guidelines reveals our shortcomings. More than half of referred cases were identified too late in time and the whole indications were not done accurately.

Burden of congenital heart diseases in a tertiary cardiac care institute in Western India: Need for a national registry

Objective: Congenital heart disease (CHD) is very common disease, and it is the major cause of childhood mortality and morbidity. Not much of Indian data are available particularly from the western part of the country. There are needs to further explicate the spectrum and epidemiology of the CHD. Materials and Methods: This retrospective study collected data of the paediatric patients received in our institute from January 2016 to June 2017. All simple and complex congenital anomalies diagnosed on echocardiography were included in our study. Results: Of total 22,275 cases, CHDs were diagnosed in 9728 cases with a male-to-female ratio of 1:0.6. Most CHDs (62.77%) were diagnosed between 1 month and 6 years of age. Incidence of cyanotic CHD was 27.14% and acyanotic CHDs was 72.86% with a ratio of cyanotic-to-acyanotic CHD being 1:2.7. Ventricular septal defect (26.24%) was the most common acyanotic CHD found followed by 2089 patients of atrial septal defect. Tetralogy of Fallot (13.57%) was the most common cyanotic CHD found followed by double-outlet right ventricle in 276 patients (2.84%). Conclusions: Ours is the largest Indian study till date in this spectrum which yielded new data on the epidemiology, incidence, and prevalence of CHD. Majority of the patients with CHD had acyanotic CHD with most common anomaly being ventricular septal defect. Tetralogy of Fallot was the most common cyanotic defect. This study will increase awareness in the people with a family history of CHD and health-care providers and will assist in early diagnosis.

Studying the determinant factors leading to congenital heart disease in newborns.

CONTEXT:Congenital heart disease (CHD) is an important cause of death during the 1st year of life and includes a special group of cardiac diseases that exist from birth. These conditions arise due to the abnormal development of an embryo's normal structures.AIMS:A case–control study was conducted to investigate the determinant factors leading to CHD.MATERIALS AND METHODS:All newborns who have been diagnosed with CHD upon echocardiography in 2013 were considered as cases. The number of samples required was randomly selected from the newborns who lacked CHD on cardiography. The mothers of both groups were handed the questionnaires.STATISTICAL ANALYSIS USED:SPSS 23 was employed to analyze the data.RESULTS:A statistically significant association was seen between CHD and a positive family history (FH) (P < 0.001), consanguinity (P < 0.001), maternal diabetes (P = 0.004), the use of antiepileptics during the first 45 days of gestation (P = 0.002), and the mother's education status (P > 0.001). No significant association was observed between CHD in the newborn and the age below 20 and above 35 years and (P = 0.11), maternal body mass index (BMI) (P = 0.44), smoking during the first 45 days of gestation (P = 0.017), and maternal rheumatologic diseases (P = 0.4).CONCLUSIONS:Newborns are at a greater risk of having CHD born from mothers with a FH of CHD, from consanguineous marriages, history of diabetes, antiepileptic use, and lack of folic acid use. However, no significant associations were found between newborn CHD and maternal age, BMI, or cigarette smoking.

How Suitable Are Registry Data for Recurrence Risk Calculations? Validation of Diagnoses on 1,593 Families With Congenital Heart Disease.

Congenital heart disease (CHD) occurs in approximately 1% of all live births, and 3% to 8% of these have until now been considered familial cases, defined as the occurrence of two or more affected individuals in a family. The validity of CHD diagnoses in Danish administrative registry data has only been studied previously in highly selected patient populations. These studies identified high positive predictive values (PPVs) and recurrence risk ratios (RRRs-ratio between probabilities of CHD given family history of CHD and no family history). However, the RRR can be distorted if registry data are used indiscriminately. Here, we investigated the consequences of misclassifications for the RRR using validated diagnoses on Danish patients with familial CHD. Danish citizens are assigned a civil registration number (CPR number) at birth or immigration, which acts as a unique identifier in the Danish registries, thus enabling connection of information from several registries. Utilizing the CPR number, we identified Danish patients with familial CHD and reviewed each patient's file. We compared diagnoses from the registries with those manually assigned, which enabled calculation of the PPVs of diagnoses in the Danish registries, and from this, we deduced the false discovery rate (FDR). To measure the consequences on the RRR, the FDR was applied to a simulated data set with true RRR values of 2 and 10. We validated diagnoses of 2,442 patients from 1,593 families. Of these, 874 patients were misclassified corresponding to an FDR of 36%. Applying this FDR on the simulated data sets, we found that the RRR decreased from 2 and 10 to 1.4 and 5.1, respectively. Lastly, we estimated that 11% of all cases with CHD were familial. We found that approximately one of nine of all cases with CHD are familial, and we also found that 36% of individuals with CHD in administrative medical registries are misclassified, which distort the RRR in simulated scenarios.

Prevalence of congenital heart disease and its related risk indicators among 90,796 Chinese infants aged less than 6 months in Tianjin.

Congenital heart disease (CHD) represents one of the most prevalent congenital malformations. However, few studies use whole-population screening by colour Doppler ultrasonic diagnostic system to identify CHD among live infants. We estimate the prevalence of CHD and its major risk indicators among infants aged less than 6 months in urban Tianjin, China. A colour Doppler ultrasonic diagnostic system was used as the screening tool for the diagnosis of CHD. A total of 90,796 infants aged less than 6 months, living in the nine urban districts of Tianjin, China, participated in the CHD screening programme between July 2009 and June 2011. A total of 1817 children were identified as having CHD. The overall prevalence of congenital heart disease was 16.4 per 1000 live births among 47,697 boys, 24.1 per 1000 live births among 43,099 girls, and 20.0 per 1,000 live births among 90,796 boys and girls combined. Atrial septal defect was the most common heart lesion of CHD, with the prevalence of 10.6 per 1000 live births. Several maternal antenatal factors, such as older age, pregnant infections, pregnancy-induced hypertension, gestational diabetes, family history of CHD, and lower education level, and several child factors, such as early screening age, lower birthweight and short gestational age, were associated with an increased risk of CHD. The prevalence of CHD of live infants in Tianjin was found to be relatively high by using a colour Doppler ultrasonic diagnostic system to screen CHD. Several maternal factors were associated with CHD risk.

Neighbourhood Deprivation, Individual-Level and Familial-Level Socio-demographic Factors and Risk of Congenital Heart Disease: A Nationwide Study from Sweden.

The purpose of the study is to examine whether there is an association between neighbourhood deprivation and incidence of congenital heart disease (CHD), after accounting for family- and individual-level potential confounders. All children aged 0 to 11 years and living in Sweden (n = 748,951) were followed between January 1, 2000 and December 31, 2010. Data were analysed by multilevel logistic regression, with family- and individual-level characteristics at the first level and level of neighbourhood deprivation at the second level. During the study period, among a total of 748,951 children, 1499 (0.2%) were hospitalised with CHD. Age-adjusted cumulative hospitalisation rates for CHD increased with increasing level of neighbourhood deprivation. In the study population, 1.8 per 1000 and 2.2 per 1000 children in the least and most deprived neighbourhoods, respectively, were hospitalised with CHD. The incidence of hospitalisation for CHD increased with increasing neighbourhood-level deprivation across all family and individual-level socio-demographic categories. The odds ratio (OR) for hospitalisation for CHD for those living in high-deprivation neighbourhoods versus those living in low-deprivation neighbourhoods was 1.23 (95% confidence interval (CI) = 1.04-1.46). In the full model, which took account for age, paternal and maternal individual-level socio-economic characteristics, comorbidities (e.g. maternal type 2 diabetes, OR = 3.03; maternal hypertension, OR = 2.01), and family history of CHD (OR = 3.27), the odds of CHD were slightly attenuated but did not remain significant in the most deprived neighbourhoods (OR = 1.20, 95% CI = 0.99-1.45, p = 0.057). This study is the largest so far on neighbourhood influences on CHD, and the results suggest that deprived neighbourhoods have higher rates of CHD, which represents important clinical knowledge. However, the association does not seem to be independent of individual- and family-level characteristics.

G168(P) Antenatal management of fetal cardiac diseases, a single centre experience in egypt

Aims The antenatal diagnosis of congenital heart diseases (CHD) is crucial for fetal and perinatal management; however, there is little in literature regarding the pharmacologic intervention for fetal CHD in Egypt. Therefore, we attempted to detect fetal cardiac structural or functional abnormalities using fetal echocardiography and plan fetal pharmacologic intervention without endangering the mother’s life. Methods Cases fulfilled inclusion criteria were diagnosed using detailed fetal Echocardiographic examinations and antenatal treatment was described if indicated after a written consent. Cardiovascular profile score (CVPS) was used to assess the response to treatment. Postnatal transthoracic Echo was done to confirm diagnosis with follow up till the end of neonatal period to determine outcome. Results Fetuses fulfilled inclusion criteria were 143 with a mean gestational age at diagnosis 27.59 ± 5.41 weeks, mean maternal age at diagnosis was 26.64 ± 5.428 years, the most frequent cause of referral was family history of CHD (34.1%). Twenty fetuses (14%) received antenatal therapy. Fetuses with heart failure due to structural cardiac defects (n = 4) and functional non arrhythmic heart failure (n = 8) received digoxin while cases with fetal tachyarrhythmia (n = 6) received digoxin and/or sotalol or flecainide and fetuses with immune mediated fetal heart block (n = 2) received dexamethazone. Success in tachyarrhythmia was statistically significant regarding CVPS (p = 0 .038) and heart rate changes (p = 0 .002) but statistically insignificant regarding CVPS in structural defects ( p = 0 .102) and non-arrhythmic functional heart failure (p = 0 .343). Conclusion Antenatal cardiac pharmacologic intervention is possible with hydrops fetalis reversal in fetal tachyarrhythmia and resolution of first degree immune mediated atrioventricular block. On the contrary, no response to antenatal digoxin use in fetal structural heart failure and limited response in non-arrhythmic functional heart failure.

Novel and highly lethal NKX2.5 missense mutation in a family with sudden death and ventricular arrhythmia.

To date, several disease-related mutations in NKX2-5, a cardiac-specific homeobox gene, have been documented in patients with a variety of congenital heart diseases (CHDs). The most commonly reported phenotypes are secundum atrial septal defect (ASD) and atrioventricular conduction disease (AVCD). Reports of sudden cardiac death (SCD) have been attributed to progressive conduction disease preventable with pacemaker therapy. A retrospective chart review of individuals from three generations of a family with a novel NKX2-5 mutation associated with CHD, ventricular arrhythmias, and SCD despite pacemaker therapy was conducted. The review documented NKX2-5 Gln181His missense mutation in 11 phenotypically affected members of a single family with a strong family history of SCD, CHD, and AVCD. Before genotyping, four family members died suddenly, two despite pacemaker therapy. The ages at SCD were respectively 23, 29, 44, and 45 years. Observed phenotypic characteristics of genotype-positive patients included ASD, ventricular septal defect, aortic coarctation, tricuspid atresia, supraventricular tachycardia, progressive AVCD, and ventricular tachycardia documented on implantable cardiac defibrillator (ICD) recording. The age at presentation ranged from 5 months to 44 years, and AVCD was seen as early as infancy. Four phenotypically unaffected family members tested negative for the mutation. The findings of this review strongly suggest a new association of this NKX2-5 mutation with SCD from ventricular arrhythmia. This observation has significant implications for the choice of therapy for affected individuals, specifically the use of ICDs, and broadens the observed phenotypic spectrum of NKX2-5 mutations.

Screening of fetal congenital heart disease: the challenge continues

Congenital heart disease (CHD) is the most common congenital malformation [1] in fetuses. It affects eight per 1,000 live births and is more common antenatally [2-5]. In beginning, cardiac evaluation was confined to pregnancies at increased risk of CHD, such as those with a family history of CHD or where extracardiac malformations had been detected. However, up to 86% of CHD occurs in pregnancies where there are no known high risk features [6], emphasizing the need for an effective fetal cardiac screening program for all pregnancies [7,8]. For this reason, in the mid 80’s started the idea of teaching the obstetrician to assess the heart in a simplified form during routine obstetric scanning [9,10]. Four chamber view scanning became an integral part of the fetal anatomical survey in many countries by the end of the 1980s [9,10]. However, prenatal screening based on visualization of the four-chamber view has much lower sensitivity [6,11]. This is partly because the four-chamber view may appear normal in cases of many anomalies, such as transposition of the great vessels, tetralogy of Fallot, double outlet right ventricle, truncus arteriosus, pulmonary or aortic stenosis/atresia and coarctation of the aorta. Anomalies of the great vessels are associated with an abnormal four-chamber view in 30% of cases [12]. When four-chamber and great vessels view are examined, the sensitivity of ultrasound screening for congenital heart defects increases from approximately 30% to 69–83% [6,11,13]. Therefore, we support the idea of evaluation both the four-chamber view and the outflow tracts (Figure 1). Then, we could improve the rate of prenatal detection of congenital heart disease. In 2006, the International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) published a guideline in which they described the “basic” and “extended basic” cardiac ultrasound examinations [14]. The intention was to standardize the assessment and to maximize the detection of heart anomalies during the second-trimester scan (Figure 1). However, we agree that a comprehensive fetal echocardiography should be performed when heart anomalies are suspected. One of the problems to follow this guideline is the difficulty of obtaining images of the outflow tracts. This happens because unlike the four-chamber view, the aorta and pulmonary artery do not lie in a single axis. In

Barriers to prenatal detection of congenital heart disease: a population‐based study

To evaluate the extent and determinants of missed prenatal detection of congenital heart disease (CHD) in a population-based setting. This was a retrospective cohort study of cases with CHD, excluding minor defects, identified between 1997 and 2007 by a statewide surveillance program. We examined a comprehensive list of potential risk factors for which data were available in the surveillance database from abstracted medical charts. We analyzed the association of fetal, maternal and encounter factors with 1) whether a prenatal ultrasound was performed and 2) prenatal detection of CHD. CHD was detected prenatally in only 39% of 1474 cases, with no improvement in detection rate over the 10-year period. Among the 97% (n = 1431) of mothers who underwent one or more ultrasound examinations, 35% were interpreted as abnormal; fetal echocardiography was performed in 27% of the entire cohort. Maternal and encounter factors increasing the adjusted odds of prenatal detection included: family history of CHD (OR, 4.3 (95% CI, 1.9-9.9)), presence of extracardiac defects (OR, 2.7 (95% CI, 1.9-3.9)) and ultrasound location i.e. high risk clinic vs clinic (OR, 2.1 (95% CI, 1.3-3.1)). Defects that would be expected to have an abnormal outflow-tract view were missed more often (64%) than were those that would be expected to have an abnormal four-chamber view (42%). The majority of CHD cases over the 10-year study period were missed prenatally and detection rates did not increase materially during that time. The failure to detect CHD prenatally was related to encounter characteristics, specifically involving screening ultrasound examinations, which may be targeted for improvement.