Rate Of Congenital Heart Disease Research Articles

Changing epidemiology of congenital heart disease: effect on outcomes and quality of care in adults.

The epidemiology of congenital heart disease (CHD) has changed in the past 50 years as a result of an increase in the prevalence and survival rate of CHD. In particular, mortality in patients with CHD has changed dramatically since the latter half of the twentieth century as a result of more timely diagnosis and the development of interventions for CHD that have prolonged life. As patients with CHD age, the disease burden shifts away from the heart and towards acquired cardiovascular and systemic complications. The societal costs of CHD are high, not just in terms of health-care utilization but also with regards to quality of life. Lifespan disease trajectories for populations with a high disease burden that is measured over prolonged time periods are becoming increasingly important to define long-term outcomes that can be improved. Quality improvement initiatives, including advanced physician training for adult CHD in the past 10 years, have begun to improve disease outcomes. As we seek to transform lifespan into healthspan, research efforts need to incorporate big data to allow high-value, patient-centred and artificial intelligence-enabled delivery of care. Such efforts will facilitate improved access to health care in remote areas and inform the horizontal integration of services needed to manage CHD for the prolonged duration of survival among adult patients.

How should we treat representative neonatal surgical diseases with congenital heart disease?

Representative neonatal surgical diseases are often complicated by congenital heart disease (CHD). We reviewed our decade of experience from the perspective of the prognosis and report on the management of infants with CHD. Cases with and without CHD between 2011 and 2020 were retrospectively compared. Qualitative data were analyzed using a chi-square test with Yates' correction, and quantitative data were compared using Student's t-test. Of the 275 neonatal surgical cases, 36 had CHD (13.1%). Ventricular septal defect was the most common cardiac anomaly, followed by atrial septal defect. Esophageal atresia showed the highest complication rate of CHD (43.8%, 14/32) followed by duodenal atresia (38.5%, 10/26). The mortality rates of patients with and without CHD (22.2% [8/36] vs. 1.3% [3/239]) were significantly different (χ2 = 30.6, p < 0.0001). Of the eight deaths with CHD, six patients had cyanotic complex CHD. Notably, four of these patients died from progression of inappropriate hemodynamics in the remote period after definitive non-cardiac surgery. Considering its high-mortality, the presence of CHD, especially cyanotic heart disease, is an important issue to consider in the treatment of neonatal surgical diseases. Pediatric surgeons should be alert for changes in hemodynamics after surgery, as these may affect mortality.

Prevalence and Pattern of Congenital Heart Disease in Pediatric Population—A Study from Central India

Abstract Introduction Prevalence of congenital heart disease (CHD) is variable depending on the region and setting of study ranging from 0.8 to 6/1,000. Age of presentation depends on types of CHD and its severity. Burden of CHD is not known in this tribal belt of Central India. Main objective of this study was to find out prevalence of CHD in children. We have also studied the pattern and age of presentation of various types of CHDs. Methods This retrospective observational study was conducted at tertiary care teaching institute in tribal belt of Central India. Children aged 0 to 15 years reported to pediatric outpatient department (OPD) were included. CHD was confirmed by echocardiography in suspected cases. Prevalence rate was calculated as number of CHDs per 1,000 OPD patients. Pattern of CHD was categorized as per standard guidelines and age-wise presentations of various types of CHD were studied. Results The prevalence rate of CHD in our study population was 27.7/1,000, which is high when compared with most of the other hospital-based studies. Most of the patients, 60.36 and 83.26% were detected before the age of 1 year and 5 years, respectively. All critical CHD cases were detected in early infancy. Conclusion There is a high burden of CHD seen in this study. Possible cause of this may be lack of specialized facility in this reason and study period included first and second wave of COVID. Further, large sample size studies and/or nationwide registry/database are needed to know the exact burden of CHD.

Endocarditis infecciosa en pacientes pediátricos de Andalucía (España), 2008-2020

IntroductionPaediatric infective endocarditis (IE) is a serious condition associated with significant mortality. Information in Spain is limited and comes from case series from single centres. The aim was to describe the epidemiology, clinical features, microbiology and outcome of paediatric IE in Andalusia. Patients and methodsMulti-centre descriptive observational retrospective study of patients <18years old with a diagnosis of IE who were admitted to six Andalusian hospitals during 2008-2020. Results44 episodes of IE (41 patients) with a median age of 103months (IQR 37-150 months) were identified. Congenital heart disease (CHD) was the main predisposing factor, identified in 34 cases (77%). A total of 21 (48%) episodes of IE occurred in patients with prosthetic material. These had higher rate of CHD (P=.002) and increased end organ dysfunction (P=.04) compared to those with native valve.Fever was an almost universal symptom, associated in 23% of the episodes with heart failure. Staphylococcus aureus (25%) followed by coagulase-negative staphylococci (18%) and Streptococcus viridans (14%) were the most frequently isolated microorganisms, and three (7%) patients with central venous catheters had a fungal infection.Thromboembolic events were observed in 30% of the episodes, surgical intervention was required in 48% of cases. Mortality rate was 9%. Prosthetic material and CRP >140mg/L were independent predictors of complicated IE. ConclusionsOur findings emphasise the high morbidity of paediatric IE. The information provided could be useful for the identification of epidemiological and clinical profiles of children with IE and complicated forms.

Congenital portosystemic venous shunt associated with 22q11.2 deletion syndrome: a case report

Background22q11.2 deletion syndrome (22qDS) is the most common chromosomal microdeletion syndrome and is associated with a high rate of congenital heart disease (CHD) and neurodevelopmental abnormalities. Congenital portosystemic venous shunts (CPSS) are rare developmental abnormalities of the portal venous system. The clinical manifestations of CPSS are varied, and some patients have CHD or genetic chromosomal abnormalities, but their relationship remains unknown. We report the first case of CPSS associated with 22qDS.Case presentationA newborn boy referred to our institution was diagnosed with 22qDS due to characteristic facial features and complications of tetralogy of Fallot. A subsequent newborn screening test indicated hypergalactosemia and high blood levels of ammonia and bile acids. Upon closer examination, these abnormalities were found to be caused by the CPSS. Abdominal contrast-enhanced computed tomography and angiography confirmed that abnormal blood vessels ascended from the splenic vein and short-circuited to the left renal vein. Intracardiac repair for CHD was performed at 1 year of age, followed by transcatheter occlusion of the CPSS using a multilayer device (vascular plug) and detachable coil at 2 years of age. After treatment, the abnormal blood parameters promptly normalized.ConclusionsAs the blood flow of CPSS bypasses the liver, the levels of galactose, bile acids, and ammonia in the systemic veins can increase. Some patients with CPSS have CHD, and these toxic substances may cause liver and lung lesions as well as portosystemic encephalopathy (PSE). Several genetic chromosomal abnormalities, including 22qDS, and CPSS have similar symptoms, and neurodevelopmental abnormalities, particularly those caused by PSE, may be difficult to diagnose. Blood tests, such as newborn screening, and abdominal imaging are useful in the early diagnosis of CPSS.

Trends in the disease burden of congenital heart disease in China over the past three decades.

To investigate the disease burden of congenital heart disease (CHD) in China from 1990 to 2019. Using the data from Global Burden of Disease (GBD) study 2019, the incidence, age-standardized incidence rates, the mortality, age-standardized mortality rates, disability-adjusted life year (DALY) and age-standardized DALY rates of CHD were calculated. Time trend analysis of disease burden-related indicators was analyzed by Joinpoint regression model. Age-period-cohort model was used to describe age, period, and birth cohort effects in CHD mortality population. The relationship between age-standardized incidence, mortality, DALY rates of congenital heart disease and human development index (HDI) were analyzed by Pearson correlation. From 1990 to 2019, the mean annual percentage change (AAPC) in age-standardized incidence rate, mortality rate and DALY rate of CHD in China were -0.1%(95% CI: -0.7%-0.4%)、-3.5%(95% CI: -3.7%--3.2%) and -3.5%(95% CI: -3.7%--3.2%), respectively. CHD usually occurred in the first year of life. The mean incidence rate at birth was 2497.9/100 000, and the mean incidence rate under 1 year of age was 2626.6/100 000. During the period of 1995-2000, the incidence rate in newborn and <1 year children showed an exponential upward trend, then it remained a steady downward trend. However, there was an exponential increase in <1 year children during 2010-2013 and 2014-2015, followed by an exponential decrease to the lowest value in the last three decades. The mortality of CHD tended to decrease with age, with mortality of 101.67/100 000 for children under 5 years of age and a decrease after 5 years of age. However, there was a transient increase in mortality in age group 55-<60. From 1995 to 2019, the relative risk of death of patients with CHD showed a downward trend. Compared with 1995-1999, the rate ratio of death decreased by 24% in 2015-2019. Such downward trend was also observed in the birth cohort after 1945. Compared with the 1945-1949 birth cohort, the rate ratio of death for patients with CHD decreased by 75% in the 2015-2019 birth cohort. When HDI<0.58 (before 1999), the age-standardized incidence of CHD was positively correlated with HDI ( r=0.74, P<0.05). When HDI≥0.58 (after 1999), the age-standardized incidence of CHD was negatively correlated with HDI ( r=-0.76, P<0.01). The age-standardized mortality and DALY rates were negatively correlated with HDI ( r=-0.95 and -0.93, both P<0.01). During 1990 to 1999, the incidence of CHD increases and is positively correlated with the social development. During 1999 to 2019, the incidence of CHD decreases and is negatively correlated with the social development. The disease burden of CHD decreases and is negatively correlated with the social development. Some progress has been made in the field of prevention and control of CHD, but the disease burden remains high among younger population in China.

Sex Differences and Cardiovascular Diseases in Down Syndrome

Congenital heart disease and cardiovascular disease are the leading causes of death for individuals with Down Syndrome (Ds) (Zhu, J.L., et al, 2013). A systematic review was conducted in June 2021 to address the research question “Are there reported sex differences for cardiovascular disease and cardiovascular physiological function in Ds”. Since there are significant sex differences in the risk of congenital heart and cerebrovascular disease in the general population, we hypothesized that these differences are present in the Ds population. Four domains were developed: congenital heart disease, baseline physiology and risk factors, heart disease and hypertension, and cerebrovascular disease. Exclusion criteria were applied to identify studies that addressed sex differences. The systematic review shows that women with Ds have a higher rate of congenital heart disease, coronary and cerebrovascular events and Moyamoya. Following the systematic review, a retrospective medical chart review of the University of Iowa Hospitals and Clinics was conducted using the platform TriNetX to identify the incidence of congenital and cardiovascular diseases in males and females. Relative risk was computed comparing Ds to general patient counts as well as men and women within each population. Ds patients did not share most of the sex differences in risk factors observed in the general population, however there are important sex differences in each domain that may contribute to earlier mortality in women with Ds. Several studies report women have an increased probability of developing risk factors for cardiovascular disease, such as obesity. Therefore, future research to understand the mechanism underlying these sex differences is necessary.ReferencesZhu, J.L., et al., Survival among people with Down syndrome: a nationwide population‐basedstudy in Denmark. Genetics in Medicine, 2013. 15(1): p. 64‐69.

Mutation spectrum of congenital heart disease in a consanguineous Turkish population.

BackgroundsWhile many studies agree that consanguinity increases the rate of congenital heart disease (CHD), few genome analyses have been conducted with consanguineous CHD cohorts.MethodsWe recruited 73 CHD probands from consanguineous families in Turkey and used whole‐exome sequencing (WES) to identify genetic lesions in these patients.ResultsOn average, each patient had 6.95 rare damaging homozygous variants, 0.68 of which are loss‐of‐function (LoF) variants. Seven patients (9.6%) carried damaging homozygous variants in five causal CHD genes. Six of those patients exhibited laterality defects (six HTX and one D‐TGA). Three additional patients (4.1%) harbored other types of CHD‐associated genomic alterations, which overall explained 13.7% (10/73) of the cohort. The contribution from recessive variants in our cohort is higher than 1.8% reported from a cohort of 2871 CHD subjects where 5.6% of subjects met the criteria for consanguinity.ConclusionsOur WES screen of a Turkish consanguineous population with structural CHD revealed its unique genetic architecture. Six of seven damaging homozygous variants in CHD causal genes occur in the setting of laterality defects implies a strong contribution from consanguinity to these defects specifically. Our study thus provided valuable information about the genetic landscape of CHD in consanguineous families in Turkey.

Very Short Stature Predicts Morbidity and Mortality After Heart Transplant

<h3>Purpose</h3> Short stature has been linked to increased transplant waitlist times and operative mortality after heart surgery. We aim to describe the relationship between stature and heart transplant outcomes. <h3>Methods</h3> The United Network for Organ Sharing was queried for data on adult heart transplant recipients from 2000 to 2021. Recipients were stratified into five groups by height: very short stature (height ≥2 standard deviations [SD] below the mean), short stature (≥1 and <2 SD below the mean, average stature (within 1 SD of the mean), tall stature (≥1 and <2 SD above the mean), and very tall stature (≥2 SD above the mean). Morbidity was analyzed using Kruskal-Wallis and chi square tests. Mortality was analyzed using Kaplan-Meier estimation, log-rank tests, and Cox regression. <h3>Results</h3> 2,033 (4.3%) heart transplant recipients from 2000 to 2021 had very short stature, 8,551 (18.0%) had short stature, 5,783 (12.2%) had tall stature and 667 (1.4%) had very tall stature. The very short stature group was younger, more commonly female, weighed less, had higher rates of congenital heart disease and restrictive cardiomyopathy, lower rates of pre-transplant mechanical ventilation, and lower serum creatinine than other groups (p<0.05). The very short stature group had increased 30-day mortality (8.1%, p<0.001), rejection rate (31.4%, p<0.001), postoperative stroke rate (3.9%, p=0.015), and median length of stay (16 days, p<0.001). Five-year survival rates ranged from 72.8% to 79.4% with the lowest in very short stature patients (p<0.001; Figure 1). On Cox regression, very short stature and short stature were associated with five-year mortality (HR 1.4, p<0.001 and HR=1.2, p<0.001 respectively), but donor/recipient height mismatch, weight mismatch, and predicted heart mass mismatch were not (HR 1.1, p=0.194; HR=1.0, p=0.709; and HR 1.0, p=0.772 respectively). <h3>Conclusion</h3> Very short stature is associated with increased morbidity and mortality after heart transplant. The mechanism explaining this effect requires further study.

Heart disease among Greenlandic children and young adults: a nationwide cohort study.

BackgroundThe incidences of heart disease (HD) and congenital heart disease (CHD) among Inuit in Greenland (GL) and Denmark (DK) are unknown. This study aims to estimate incidence rates (IRs) of HD and CHD among the young Inuit populations in Greenland and Denmark compared with rates among young non-Inuit populations in the same countries.MethodsA register-based nationwide cohort including all individuals living in Greenland and Denmark from birth to age <40 years through 1989–2014 was formed. Ethnicity was considered Inuit/mixed if at least one parent was registered as being born in Greenland. Information on HD and CHD hospitalization was obtained from national inpatient registers using ICD-8 and ICD-10 codes.ResultsHD IR was lower among individuals living in Greenland compared with those living in Denmark, [73.35GL (95% confidence interval (CI) 68.07 to 79.03)] vs [88.07DK (95% CI 87.38 to 88.76)], whereas CHD IRs were almost similar in the two countries [IR 34.44GL (95% CI 30.89 to 38.40) vs IR 34.67DK (95% CI 34.24 to 35.10)]. Being of Inuit/mixed ethnicity was associated with an increased risk of both HD and CHD compared with non-Inuit in Greenland and Denmark [adjusted hazard ratio HD 2.07GL (95% CI 1.25 to 3.42)] and CHD [2.92GL (95% CI 1.34 to 6.38)].ConclusionHD IR was lower in individuals living in Greenland compared with individuals living in Denmark, whereas the CHD IRs were almost the same for both countries. However, the risk of HD including CHD was higher among individuals of Inuit/mixed ethnicity compared with non-Inuit in both countries, suggesting a role of ethnicity among children and younger adults.

Unrepaired congenital heart diseases in adults – Detection rate and diagnostic errors

Context: There are very few data about the unrepaired congenital heart disease (CHD) in adults. There are high chances of errors in diagnosis of CHD in adult population due to various reasons. If proper diagnosis is made, many of these CHDs are amenable to surgery leading to improved quality of life. Aims: Primary objective of the study was to know the detection rate of unrepaired CHD in adults. We have also reported common errors done while making the diagnosis of CHD in adults. Subjects and Methods: This was a retrospective observational study conducted from March 2020 to September 2021. Patients more than 18 years old who came for transthoracic echocardiogram (TTE) for any reason were included, and the detection rate of unrepaired CHD was calculated. Simultaneously, we have also checked for any errors in reports done outside our center and classified them based on their effect on management. Results: During the study period, 6675 TTEs were done in the study population, out of which 89 (1.33%) were detected with unrepaired CHD. Acyanotic CHD was detected in 81 (91%), whereas the rest 8 (9%) had cyanotic CHD. Forty-one patients had echocardiography report done outside, out of which 25 (61%) had discrepancies. Discrepancies were more in complex CHD. Conclusions: Cardiologists or echocardiographers should follow systematic approach and place special emphasis on identifying congenital heart diseases. Many potential lesions are amenable to surgery and near-complete correction leading to improved duration and quality of life.

Prenatal Diagnosis of Congenital Heart Diseases and Associations with Serum Biomarkers of Aneuploidy: A Multicenter Prospective Cohort Study.

PurposeWe assessed prenatal detection rates of congenital heart disease (CHD) and associations between maternal serum biomarkers and non-chromosomal CHD in singleton pregnancies.Materials and MethodsThis study was conducted as a secondary analysis of data obtained during a multicenter prospective cohort study that investigated the cost-effectiveness of prenatal testing for fetal aneuploidy. We analyzed the prenatal detection rate and accuracy for CHD screening via ultrasound during the second trimester, as well as associations between serum biomarkers and CHDs, in singleton newborns without chromosomal abnormalities.ResultsAmong 6715 women, 142 (2.1%) newborns were born with CHDs, of which 67 (1.0%) newborns had major CHDs. The prenatal detection rate for all CHDs and major CHDs were 34.5% and 58.2%, respectively. After excluding isolated ventricular septal defects, the detection rate for critical CHDs was 85.9%. Women with low pregnancy-associated plasma protein A (PAPP-A) (<0.4 multiples of the median, MOM) face increased risks of non-chromosomal CHDs [adjusted odds ratio (aOR) 2.76; 95% confidence interval (CI) 1.36–5.13] and major CHDs (aOR 7.30; 95% CI 3.18–15.59), compared to those without CHDs. A higher inhibin A level (≥2.5 MOM; aOR 4.84; 95% CI 1.42–12.46) was associated with non-chromosomal major CHDs.ConclusionUltrasonography performed during the second trimester by obstetricians detected over 85% of critical CHDs. Low maternal serum PAPP-A or high inhibin-A was associated with non-chromosomal CHDs. These results may contribute to an improvement in prenatal diagnosis of CHDs.

Study on the application of ultrasonography in the diagnosis of fetal cardiac structural abnormalities and the relationship between fetal cardiac structural abnormalities with chromosome abnormalities in early pregnancy.

BackgroundTo explore the significance of multiple ultrasonic soft indexes such as Nuchal translucency (NT) in detection of cardiac structural malformations and chromosome abnormalities in fetal systematic screening in the first trimester, and to understand the value of combined transvaginal ultrasound (TVUS) in congenital heart disease (CHD) screening.MethodsA total of 3,356 pregnant women who underwent early NT screening were screened by systematic ultrasound to monitor and evaluate the sensitivity and specificity of NT, tricuspid valve (TV), ductus venosus (DV) in the diagnosis of fetal CHD. According to the different intervals of NT thickening, the patients were divided into four groups, the detection rates of CHD and abnormal karyotypes in each group were compared, and the consistency of transabdominal and combined transvaginal ultrasonography was compared.ResultsA total of 3,356 cases of early pregnancy were examined by NT. A total of 66 cases of CHD were detected, and the detection rate was 1.97%. Among the 66 CHD cases, 14 cases underwent chromosome karyotype examination and 12 of those cases had abnormal results. With the increase of NT thickness, the detection rates of cardiac structural abnormalities and chromosomal abnormalities all showed a linear increasing trend. The sensitivity of the NT ≥2.5 mm group was as high as 63.64%, and the ductus venosus α wave (DVα) reverse specificity, and the positive likelihood ratio was 99.57% and 53.41%, respectively. The sensitivity of the 3 indicators combined was 66.67%, which was higher than that of any single index, and the area under the receiver operating characteristic (ROC) curve of these 3 indicators combined was the largest (AUC: 0.86). 4. Seventy patients in total were examined by combined TVUS. There is no statistical difference between the two.ConclusionsA positive linear correlation was found between NT thickness and the detection rate of fetal cardiac structural abnormality and chromosome abnormality. Early pregnancy NT screening combined with TV blood flow spectrum and DV blood spectrum screenings has high specificity and sensitivity in the diagnosis of CHD. Combined transabdominal and TVUS in early pregnancy can reduce the rates of misdiagnosis and missed diagnosis of fetal CHD.

RLDS: An explainable residual learning diagnosis system for fetal congenital heart disease

Fetal congenital heart disease (CHD) is a prevalent and highly complicated fetal deformity. Furthermore, the number of infants with CHD accounts for as high as 6‰–8‰ among all the living newborns in China. For the early diagnosis and screening of the fetal CHD, echocardiography technology plays a vital role in assessing anatomical structures and functions of the fetal heart. However, the prenatal detection rate of CHD is still meager due to the particularity of the fetal cardiac structures and the diversity of the fetal CHD. Hence, we propose a simple yet effective residual learning diagnosis system (RLDS) for diagnosing fetal CHD to improve diagnostic accuracy, which adopts convolutional neural networks to extract discriminative features of the fetal cardiac anatomical structures. To enhance the credibility of the RLDS, we provide a global visualizing explanation for the diagnosis process of our RLDS. Moreover, we visually explain the local feature map of the residual feature learning, making the residual learning more transparent. Extensive experiments demonstrate that our proposed RLDS is very effective in diagnosing fetal CHD. Furthermore, the proposed RLDS achieves a precision of 93% and a recall of 93% on the test set, which significantly improves the prenatal detection rate for the fetal CHD.

Changing Spectrum of Cardiac Diseases in Children: An Extended Longitudinal Observation Study of a Pediatric Cardiac Screening Program.

The spectrum of cardiac diseases in children is distinct from that in adults, and changes with advances in medical care and socioeconomic conditions. Such data are important for the allocation of medical resources, but are unclear. Based on a longitudinal pediatric cardiac screening program, we sought to delineate the spectrum and the trends. From 2002 to 2018, citywide screening programs of cardiac diseases for children were performed in Taipei, Taiwan. Participants, mainly students entering the first grade of elementary school, were evaluated using questionnaires, simplified 4-lead electrocardiography (EKG), phonocardiography, and physical examinations. Those suspected of having abnormal cardiac lesions received detailed evaluations by pediatric cardiologists for a final diagnosis. The median prevalence of cardiac lesions in the children was 19.60/1000 (range from 14.9 to 24.65/1000), including congenital heart disease (32.02%), EKG abnormalities (33.34%), mitral valve prolapse (15.17%), Kawasaki disease (6.89%), rheumatic heart disease (0.17%) and others (12.41%). A significant time trend was only observed in a trend of decline in rheumatic heart disease. The median prevalence rates of congenital heart disease, Kawasaki disease, rheumatic heart disease, mitral valve prolapse, and EKG abnormalities were 6.20, 1.37, 0, 3.12, and 6.46 per 1000 children, respectively. This study, based on a citywide cardiac screening program, indicates that the spectrum of cardiac diseases in children has not changed in recent decades, except for a decline or disappearance of rheumatic heart disease in the Taipei metropolitan area. While congenital heart disease and EKG abnormalities were the most common, Kawasaki disease was the most commonly acquired heart disease in children.

Integrative modeling of transmitted and de novo variants identifies novel risk genes for congenital heart disease.

Whole-exome sequencing (WES) studies have identified multiple genes enriched for de novo mutations (DNMs) in congenital heart disease (CHD) probands. However, risk gene identification based on DNMs alone remains statistically challenging due to heterogenous etiology of CHD and low mutation rate in each gene. In this manuscript, we introduce a hierarchical Bayesian framework for gene-level association test which jointly analyzes de novo and rare transmitted variants. Through integrative modeling of multiple types of genetic variants, gene-level annotations, and reference data from large population cohorts, our method accurately characterizes the expected frequencies of both de novo and transmitted variants and shows improved statistical power compared to analyses based on DNMs only. Applied to WES data of 2,645 CHD proband-parent trios, our method identified 15 significant genes, half of which are novel, leading to new insights into the genetic bases of CHD. These results showcase the power of integrative analysis of transmitted and de novo variants for disease gene discovery.

A Study on Clinical Screening of Neonatal Congenital Heart Disease in Jinjiang City.

ObjectiveThis study explored the feasibility of congenital heart disease (CHD) screening by combining a percutaneous oxygen saturation (POX) test with cardiac auscultation method in neonates.MethodsPOX tests and cardiac auscultation were used concurrently to screen 8305 neonates born in Jinjiang City Hospital between January 2016 and December 2018 for CHD. The positive screening results (positive POX or positive cardiac auscultation) were confirmed with echocardiography, while any false negative results were identified through follow-up and parent feedback. Sensitivity, specificity, positive/negative predictive values, Youden’s index, and the area under the receiver operator characteristic curve (AUC) of the single use and combined use of the two methods (a POX test and auscultation) were calculated, and the results were compared.ResultsAmong 8305 neonates, 22 cases were positive for POX alone, of which 6 cases were diagnosed by echocardiography; 83 cases were positive for cardiac auscultation alone, of which 47 cases were diagnosed by echocardiography; and 8 cases were positive for both methods, all of which were confirmed by echocardiography. Four more cases were confirmed during follow-up. Sensitivity, specificity, and the positive and negative predictive values of combined screening were 93.85%, 99.37%, 53.98% and 99.95%, respectively, while Youden’s index was 0.93, and the AUC was 0.966. Sixty-five cases of CHD were diagnosed, the total incidence being 7.82%, and a ventricular septal defect was found to be the most common type.ConclusionThe combination of POX test and cardiac auscultation as a screening method for neonatal CHD can reduce missed diagnoses and increase the detection rate of CHD in newborn infants.

Comparison of trends in congenital heart disease mortality from 1990 to 2017 between China and North America

Objective: To compare trends in congenital heart disease (CHD) mortality between China and North America from 1990 to 2017. Methods: Using the data from the Global Burden Of Disease (GBD) study 2017, we analyzed the related indicators of CHD mortality in China and North America from 1990 to 2017, including standardized mortality, number of deaths, age distribution of death population and age-specific mortality of CHD in each birth cohort. Age-period-cohort model was used to calculate the annual percent change of age-standardized and age-specific mortality rates of CHD (% per year), period effect-adjusted age-specific mortality rates, and the relative risk of death among CHD population at different time periods (2000－2004 as reference period) and different birth cohorts (1970 as reference cohort). Results: In 2017, the age-standardized mortality rates for CHD in China and North America were 2.63/100 000 and 1.13/100 000 respectively, a decrease of 50.4% and 49.4% compared to 1990. Of all deaths from CHD in China, 76.8% were found in children under 5 years, which was higher than that in North America (51.7%). For population under 40 years, the period effect-adjusted age-specific mortality was higher in China (0.46-167.94 per 100 000 person-years) than in North America (0.68-22.47 per 100 000 person-years); whereas for population over 40 years, mortality was lower in China (0.13-0.34/100 000 person years) than in North America (0.43-0.72/100 000 person-years).From 1990 to 2017, CHD mortality in China decreased by 1.95% per year. The annual decrease of mortality ranged from 1.95% to 3.64% per year in population under 45 years, but the mortality showed increasing trends among those over 50 years. In 2015－2019, the relative risk of death from CHD decreased by 31% in China and 24% in North America. For 2015 birth cohort, the relative risk of death decreased by 84% in China and by 64% in North America. Conclusions: In the past 30 years, the risk of death from CHD in China has significantly decreased, and the survival gap with North America is dramatically narrowed. However, mortality is higher among younger populations in China than in North America, and the mortality in the elders shows increasing trends each year in China.

Pulmonary Vasodilator Use in Children with Heterotaxy Syndrome Undergoing Surgical Intervention for Congenital Heart Disease

Purpose Patients with heterotaxy syndrome have a high rate of congenital heart disease, often requiring surgical interventions, including palliative procedures to augment or restrict pulmonary blood flow. Pulmonary hypertension in this setting complicates surgical interventions and overall management. Pulmonary vasodilators may be used to treat pulmonary hypertension and facilitate surgical interventions. We describe the use of pulmonary vasodilators in patients with heterotaxy syndrome. Methods Single-center retrospective chart review of patients with heterotaxy syndrome who underwent at least one cardiac operation from Jan 1 2008 to Oct 31 2019. The diagnosis of heterotaxy syndrome was established from imaging studies performed prior to intervention. Surgical interventions were reviewed from operative reports. Pulmonary vasodilator use was assessed from progress notes and medication reconciliation at all inpatient and outpatient encounters. Results Thirty-four patients with heterotaxy syndrome were treated at our center during the study period, with follow up ranging from 18 to 3385 days. Palliative surgical interventions included restriction of pulmonary blood flow in 8 patients and augmentation of pulmonary blood flow in 11 patients. Pulmonary vasodilators were used in 16 patients (47%): 7 (20%) received inhaled nitric oxide while admitted, 3 (9%) received supplemental oxygen as outpatients, 12 (35%) received sildenafil as outpatients, 5 (14%) received multiple agents. Treatment was initiated in the inpatient setting in all patients. All patients on supplemental oxygen and the majority of patients on sildenafil continued on treatment at most recent follow up (10 patients, 83% of patients ever prescribed). There was no difference in pulmonary vasodilator use when stratified by surgical palliation strategy, and no differences in survival between patients with and without pulmonary vasodilator use. Conclusion Pulmonary vasodilator use is common in patients with heterotaxy syndrome undergoing surgical interventions for congenital heart disease. It is typically initiated in the inpatient setting but well-tolerated on a long-term basis, and may facilitate treatment in this challenging population.

The epidemiology of hospital death following pediatric severe community acquired pneumonia

BackgroundCommunity acquired pneumonia is the primary cause of pediatric hospitalizations and deaths in children under 5 years of age. But the epidemiology of death in pediatric severe community acquired pneumonia was not well characterized.MethodsThis retrospective observational study was performed at the academic Emergency department and intensive care unit and we investigated the timing, cause, mode and attribution of death in children with severe community acquired pneumonia.ResultsOf 962 subjects with severe community acquired pneumonia, there were 57 non-survivors (5.9% mortality). Median time to death was 7 [IQR 3,16] days from severe community acquired pneumonia recognition. Patients dying ≤7 days were younger, had greater illness severity and higher rate of congenital heart disease, who were more likely to die of a cardiovascular cause. Multiple organ dysfunction syndrome predominated in deaths > 7 days. Unsuccessful cardiopulmonary resuscitation was the most common mode of death at all timepoints. Our findings suggested that in pediatric severe community acquired pneumonia, early deaths were due primarily to cardiovascular dysfunction, while later deaths were more commonly due to multiple organ dysfunction syndrome.ConclusionsDeaths from non-pulmonary factors accounted for a substantial portion of non-survivors. Respiratory dysfunction accounted for only a minority of deaths. Our study highlighted limitations associated with rescuing patients with severe pneumonia from death if extrapulmonary organ dysfunctions could not be simultaneously managed.