Congenital Heart Disease Referred for Surgery: Analysis and Epidemiological Description in the Cardiology Department of CHU Ignace Deen

Introduction: Congenital heart disease includes all cardiac and vascular malformations. It accounts for approximately one third of all congenital malformations and is a public health problem, particularly in developing countries. The aim of this study was to analyze the epidemiological, clinical and paraclinical aspects of congenital heart disease. Methods: This was a retrospective descriptive and analytical study based on the records of 135 patients referred for surgery and followed up in the cardiology department of the Ignace Deen University Hospital, collected in November 2022. Results: Hospital prevalence was 5%. The mean age was 71 months, ranging from 1 month to 19 years. The age group over 24 months was the most represented (62%). The M/F sex ratio was 1.36. Urban origin was predominant (58%). The rate of children not attending school or dropping out was high (16%). Siblings with fewer than 4 children were the most common (88%). A heart murmur was the most frequent sign (78%), followed by cyanosis (36%) and heart failure (29%). The association between heart murmurs and CHD was proven with a p-value Conclusion: CHDs represent the main indication for paediatric cardiac surgery and follow-up (95%). We stress the importance of implementing a screening and management strategy for congenital heart disease.

Multi-modality imaging review of congenital abnormalities of kidney and upper urinary tract

Congenital abnormalities of the kidney and urinary tract(CAKUT) include a wide range of abnormalities ranging from asymptomatic ectopic kidneys to life threatening renal agenesis(bilateral). Many of them are detected in the antenatal or immediate postnatal with a significant proportion identified in the adult population with varying degree of severity. CAKUT can be classified on embryological basis in to abnormalities in the renal parenchymal development, aberrant embryonic migration and abnormalities of the collecting system. Renal parenchymal abnormalities include multi cystic dysplastic kidneys, renal hypoplasia, number(agenesis or supernumerary), shape and cystic renal diseases. Aberrant embryonic migration encompasses abnormal location and fusion anomalies. Collecting system abnormalities include duplex kidneys and Pelvi ureteric junction obstruction. Ultrasonography(US) is typically the first imaging performed as it is easily available, noninvasive and radiation free used both antenatally and postnatally. Computed tomography(CT) and magnetic resonance imaging(MRI) are useful to confirm the ultrasound detected abnormality, detection of complex malformations, demonstration of collecting system and vascular anatomy and more importantly for early detection of complications like renal calculi, infection and malignancies. As CAKUT are one of the leading causes of end stage renal disease, it is important for the radiologists to be familiar with the varying imaging appearances of CAKUT on US, CT and MRI, thereby helping in prompt diagnosis and optimal management.

A possible association between cervical erosion in pregnant women and congenital abnormalities in their children-a population-based case-control study

Objective to study the possible association between erosion of cervix in pregnant women (ECP) and structural birth defects, i.e. congenital abnormalities (CA) in their offspring. Study design: Comparison of cases with CA and all matched controls without any CA born to wo- men with prospectively and medical record ECP in the population-based large data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities (HCCSCA). Results: HCC- SCA contained 22,843 cases and 38,151 matched controls, the informative offspring of 40 (0.18%) case mothers and the newborns of 25 control mothers (0.07%) with ECP were compared and the higher risk for total CA (adjusted OR with 95% CI: 2.7, 1.6-4.4) was found explained by the higher risk of 9 cases with hypospadias (OR with 95% CI: 4.5, 2.1-9.7) and 10 cases with car-diovascular CAs (OR with 95% CI: 3.4, 1.6-7.1), particularly with conotruncal CAs. Conclusions: An unexpected possible association of ECP with higher risk for hypospadias and conotrun-cal cardiovascular CAs was found and these findings are considered as signals that need confirmation or

Role of SOX2 in foregut development in relation to congenital abnormalities

The uptake of the two essential ingredients for life, oxygen and nutrients, occurs primarily through the oral cavity, but these two lifelines need to be separated with high accuracy once inside the body. The two systems, the gas exchange pulmonary system and the gastro-intestinal feeding system, are derived from the same primitive embryonic structure during development, the foregut, which need to be separated before birth. In certain newborns, this separation occurs not or insufficiently, leading to life threatening conditions, sometimes incompatible with life. The development of the foregut, trachea and lungs is influenced and coordinated by a multitude of signaling cascades and transcription factors. In this review, we will highlight the development of the foregut and pulmonary system and focus on associated congenital abnormalities in light of known genetic alterations with specific attention to the transcription factor SOX2.

Congenital Abnormalities of Kidneys and Urinary Tract in Children at the Dakar University Hospital

Congenital abnormalities of the kidneys and urinary tract (CAKUT) represent all the morphological abnormalities associated with a disorder of the embryonic development of the kidneys and their excretory tract. Its prevalence is underestimated in developing countries compared to developed countries. This was a cross-sectional and descriptive study between January 1st, 2015 and February 28th, 2020, carried out in the pediatric department of Aristide Le Dantec Hospital. The prevalence of CAKUT was 8.77% for all pediatric nephrologic pathologies (n = 58), the median age at diagnosis was 77.28 months and the sex ratio was 1.6. The circumstances of the discovery of CAKUT were dominated by urinary tract infection (n = 21), the antenatal diagnosis was poor (n = 13) and confusion between cysts and calyx dilation in antenatal was noted. Ultrasound was the main postnatal imaging test requested. The most common renal abnormality was kidney cysts (n = 18) (cystic kidneys and multicystic dysplastic kidney) and the most common urological abnormality was the posterior urethral valves (n = 8). Kidney failure was a pejorative factor in the evolution of these CAKUT.

ABNORMALITIES OF ERG IN CONGENITAL ANIRIDIA

Congenital aniridia is generally associated with nystagmus, corneal pannus, cataract, ectopia lentis, glaucoma, macular hypoplasia, optic nerve hypoplasia and compromised visual function. Many theories have been proposed, including a failure in the development of the neural ectoderm and/or an aberrant development of mesoderm. We observed the ERG from 19 patients with congenital aniridia. Fourteen patients had abnormal ERG, including the reduced a wave trough under dark adapted red stimuli with dark adap...

Temporal and Regional Differences in Congenital Heart Surgery in China(2017-2022):Trends and Implications

Background:With the decline of birth population and the development of medical technology in China,studies assessing how these changes have affected the adoption of congenital heart disease surgery at the national or regional scale are lacking.Methods:We investigated the status of congenital heart surgery in China in the period from 2017-2022,through investigation of the total rates of cardiac surgeries,cardiopulmonary bypass(CPB),adult congenital heart surgeries(CHS),and pediatric CHS(<18 years old),as recorded by the Extracorporeal Cir-culation Branch of the Chinese Society of Biomedical Engineering.Subsequently,we evaluated correlations between these factors with economic,demographic,and other factors.Results:From 2017 to 2022,the total num-ber of cardiac operations increased from 230,772 to 263,292,representing an increase of 14.09%over 6 years;the CHS dropped from 76,365 to 68,940(10.19%decrease),and the proportion of CHS in the total cardiac surgeries dropped from 33.26%to 26.18%(7.08%decrease).Finally,cases of pediatric CHS decreased from 61,825 to 38,174(38.25%decrease).The annual percentage change(APC)of the total amount of pediatric CHS cases was-10.03(-15.95 to-3.69,p=0.013).Adult CHS increased from 14,940 to 30,766(105.93%increase).The proportion of adult CHS cases of the total number of cardiac surgeries increased from 6.47%to 11.68%(5.21%increase).From a regional perspective,the APC for the proportion of pediatric CHS in the local population was generally lower in western China.The proportion of CHS in the local population generally decreases from the north to the south,although the lowest incidence is found in the northeast region.Conclusions:Due to demographic changes,med-ical technology and economic factors,the number of surgical operations for congenital heart disease(CHD)in children decreased significantly from 2017 to 2022,and may decline further in the future.Nevertheless,in the same period,a significant increase in the number of operations for CHD in adults was observed,which brings new opportunities and challenges to the development of congenital cardiac surgery and cardiac critical care.

Epispadias in a Child with Intact Prepuce: A Rare Congenital Abnormality

Epispadias is a rare genitourinary malformation, more so is epispadias with intact prepuce. Incidence of epispadias with intact prepuce is not known however, there are few case reports and a case series. We present a 5-year-old boy brought to our facility by his parent for circumcision. Further evaluation revealed a short penis with broad base and intact prepuce. The preputial slit was dorsally oriented. On retracting the prepuce, there was corona epispadias with wide and healthy urethral plate. No meatal stenosis or chordee noticed. Other findings were normal. He had epispadias repair. The postoperative period was uneventful. Three months after operation, the prepuce was easily retractable over the penis and the penis was cosmetically acceptable.

Epidemiological Profile of Cyanotic Congenital Heart Disease in the “B” Surgery Department of Point G University Hospital, before the Advent of Extracorporeal Circulation

Aim: Evaluate the epidemiological profile of cyanotic congenital heart disease in Mali before the advent of extracorporeal circulation in the “B” Surgery Department at the Pont G University Hospital. Patients and Methods: This was a retrospective and descriptive study that took place from January 1, 2011 to December 31, 2017. The records of patients with cyanotic congenital heart disease in the “B” surgery department of Point G University Hospital were collected. Patients operated on for cyanotic congenital heart disease were included in this study. Non-operated patients were not included. Results: The records of 17 patients operated on for cyanotic congenital heart disease were retained. The average age of patients at the time of surgery was 5.18 years with extremes of 2 and 18 years. Boys were in the majority with 59%, i.e. a sex ratio of 1.42. Patients resided in Bamako in 82% of cases. Inbreeding was found in 35.3%. Eighty-eight percent of children were born at term and 94% had up-to-date vaccination status. The average duration of patient follow-up between diagnosis and surgical management was 5 years with extremes of 2 years and 12 years. Tetralogy of Fallot regular form was the most represented heart disease. Conclusion: Cyanogenic congenital heart disease remains the most frequent congenital pathologies in our country. They most often affect male children. Consanguinity is the most common etiological factor found. Tetralogy of Fallot regular form remains the most common.

Congenital agenesis of seminal vesicle

Congenital agenesis of the seminal vesicle （CASV） is frequently associated with congenital absence of the vas deferens （CAVD） or ipsilateral congenital vasoureteral communication. We reported two cases of a rare condition that the vas deferens open ectopically into Mullerian duct cyst associated with agenesis of the ipsilateral seminal vesicle. The diagnosis was confirmed by vasography. Transurethral unroofing of the Mullerian duct cyst was performed in both patients with favourable results, however, assisted reproductive technology （ART） was still necessary for them to father children.

Trends and characteristics of congenital ectopia lentis in China

AIM： To elucidate the trends and characteristics of congenital ectopia lentis（CEL） in southern China.METHODS： CEL patients from China admitted to Zhongshan Ophthalmic Center（ZOC） from January 2006 to December 2015 were recruited in our study. Residence, gender, hospitalization time, age at surgery, and the presence of other ocular abnormalities and system disease were statistically analyzed in different subgroups.RESULTS： Four hundred and thirty-seven hospitalizations（306 in-patients） diagnosed with CEL from a total of 283 308 hospitalizations were identified, which accounted for 0.15% of the total in-patients. Of the identified CEL in-patients, the total ratio of boys to girls was 2.22：1. Based on a subgroup analysis according to age, patients aged 12-18 years old constituted the highest proportion（31.70%） of all hospitalized CEL patients, and those 0-3 year old constituted the lowest proportion（8.82%） of the total number. The number of CEL increased from 18 to 72 and the hospital based prevalence increased from 8.60% to 18.10% from 2006 to 2015, and the average age at surgery decreased from 9 years old in 2006 to 7.6 years old in 2015. CONCLUSION： The results reveal upward trends in both the number of CEL hospitalizations and hospital based prevalence of CEL in this 10-year study period, but a reduction in the age at surgery, which may reflect the increase of public awareness of children＇s eye care in China.

Epidemiology of syndactyly in New York State

BACKGROUND There is paucity of literature focusing on the incidence and surgical management of syndactyly. In this study, we describe the incidence and rates of surgical management of patients with syndactyly in New York State.AIM To describe the incidence and surgical management of patients with syndactyly using an America’s population-based database.METHODS We conducted a retrospective study using the New York State Statewide Planning and Research Cooperative System. All patients with a diagnosis of syndactyly at birth were identified and followed longitudinally to determine yearly incidence as well as demographic and surgical factors. Descriptive statistics and univariate analyses were used.RESULTS There were 3306 newborns with a syndactyly diagnosis between 1997 and 2014 in New York State. The overall incidence was 0.074% or 7 cases per 10000 live births.A small number of patients underwent surgical correction in New York State(178 patients, 5.4%). Among the surgical patients, most of the operations were performed before the age of two(79%). Approximately 87% of surgeries were performed at teaching hospitals, and 52% of procedures were performed by plastic surgeons. Skin grafting was performed in 15% of cases. Patients having surgery in New York State were more likely to have Medicaid insurance compared to patients not having surgery(P = 0.02).CONCLUSION Syndactyly occurs in approximately 7 per 10000 live births, and the majority of patients undergo surgical correction before age two. There may be severalbarriers to care including the availability of specialized hand surgeons, access to teaching hospitals, and insurance status.

Congenital Coronary Variants and Anomalies: Prevalence in Cardiovascular Multislice Computed Tomography Studies in a Single Center

In the era of Multislice Computed Tomography (MSCT), few studies have been dedicated to the evaluation of coronary anomalies and variants. We aim to present, describe and assess the prevalence of congenital coronary variants and anomalies (CVA) in the MSCT coronary angiographic studies performed in our department. All the MSCT coronary angiographies performed in our department, between April 1, 2007 and May 31, 2012 were reviewed. Coronary anomalies and variants were characterized and grouped according to their type: origin, course (including myocardial bridging) and distal ending. A total of 663 patients underwent a MSCT coronary evaluation during this period. A total of 84 anomalies and variants were identified in 80 individuals: 12.1% of the population (80/663). The most frequent variant was the myocardial bridging of the anterior descending artery. Four (4.7%) of the anomalies were considered malignant, corresponding to a prevalence of 0.6% (4/663) in the population. Congenital coronary anomalies and variants are relatively common. In our study, the prevalence was 12.1%, myocardial bridging being the most common. This fact may explain the higher prevalence compared to some series based on the cardiac catheterization studies. Few of these anomalies were considered malignant, with prevalence rates similar to those found in the cardiac catheterization studies.

Lymphocytic choriomeningitis virus:An under-recognized congenital teratogen

BACKGROUND Lymphocytic choriomeningitis virus(LCMV)is a neglected rodent-borne arenavirus associated with transplacental transmission and fetal infection.AIM To summarize the epidemiological,clinical,and diagnostic features of reported patients with congenital LCMV infection.METHODS A literature search was conducted in PubMed,Medline,Google Scholar,and ResearchGate.The keywords used were‘congenital lymphocytic choriomeningitis virus,’and 48 studies were included.In addition,we conducted a relevant search by Reference Citation Analysis(RCA)(https://www.referencecitationan alysis.com).RESULTS The results have shown 27 reports of congenital LCMV infection in 86 patients,with 52.73%of them being males.Patients presented with chorioretinitis(83.53%),hydrocephalus(54.12%),and psychomotor retardation or developmental delay(54.12%).Computed tomography and/or magnetic resonance imaging most often demonstrated ventriculomegaly(74.07%),periventricular calcifications(66.67%),and microcephaly(40%).Most mothers of congenitally infected infants were exposed to rodents during pregnancy,predominantly mice,with flu-like symptoms mainly occurring during the first two trimesters of gestation.Mortality in congenitally infected children was 16.47%.The diagnosis of congenital LCMV infection was confirmed serologically in most patients(86.67%).CONCLUSION LCMV is still an insufficiently recognized fetal teratogen that often leads to long-term neurologic sequelae.Clinicians need to be familiar with LCMV and its potential teratogenic effect and as well as to effectively differentiate LCMV from other TORCH(T:Toxoplasma gondii,O:Other pathogens,R:Rubella virus,C:Cytomegalovirus,H:Herpes simplex virus)pathogens.

Descriptive Study:Congenital Malformations in Pediatric Patients of a Public Maternity Hospital of the City of Manaus,Amazonas

The Pan American Health Organization(PAHO)defines congenital malformation as any functional or structural anomaly in the development of the fetus,due to factors originating before birth,whether genetic,environmental or unknown.The aim of the present study was to identify the frequency of malformations,the type of congenital malformations and to correlate this with risk factors in live-born infants,using SLB data.The data were collected through consultation of the medical records of live-born infants of the Balbina Mestrinho Maternity Hospital,15,621 live births were reported,of which 248(1.58%)presented congenital malformations.There was a higher prevalence of malformations among live-born males(49.7%),with Apgar≥7 at the first and fifth minute,gestational age ranging from 37-41 weeks,with 46%being born with appropriate weight between 3,000-4,000 g.The association of two or more defects was observed in 38.7%of the total cases and isolated anomalies in 67.3%,with predominance of alterations of the digestive system(26.3%),followed by malformations of the musculoskeletal system(21.2%),nervous system(20.2%)and cleft lip/cleft palate(9.1%).The results presented here may guide strategic actions to improve care for families of people with congenital malformations.

Congenital heart disease

970296 Evaluating the degree of pulmonary vascularlesions in congenital heart disease with selective pul-monary angiography. PAN Shiwei(潘世伟), et al.Fuwai Hosp, CAMS & PUMC, Beijing, 100037. Chin JCardiol 1997; 25(1): 39-41. Objective: To evaluate the degree of pulmonary vas-

Epidemiology of congenital diaphragmatic hernia among 24 million Chinese births:a hospital-based surveillance study

Background The prevalence of congenital diaphragmatic hernia(CDH)varies across countries,with limited information available on its epidemiology in China.Our study aimed to investigate the prevalence,time trends,and perinatal outcomes of CDH in China,as well as its associated malformations and potential associations with maternal and infant characteristics.Methods This study included all birth and CDH cases from the Chinese Birth Defects Monitoring Network between 2007 and 2019,with CDH cases classified as either isolated or associated.We employed the joinpoint regression model to calculate the trends of prevalence and the annual percent change,with Poisson regression used for adjusted prevalence rate ratios.A P value≤0.05 was considered statistically significant.Results A total of 4397 CDH cases were identified among 24,158,029 births in the study period,yielding prevalence rates of 1.82,1.13 and 0.69 per 10,000 for overall,isolated,and associated CDH,respectively.The prevalence of each type of CDH increased over time.The prevalence of overall CDH varied significantly by infant sex(male vs.female,1.91/10,000 vs.1.63/10,000),maternal residence(urban vs.rural,2.13/10,000 vs.1.45/10,000),maternal age(<20 years,1.31/10,000;20-24 years,1.63/10,000;25-29 years,1.80/10,000;30-34 years,1.87/10,000;≥35 years,2.22/10,000),and geographic region(central,1.64/10,000;east,2.45/10,000;west,1.37/10,000).Cardiovascular anomalies were the most common malformations associated with CDH.Infants with associated CDH had a higher risk of premature birth and perinatal death than those with isolated CDH.Conclusion The increasing prevalence and high perinatal mortality rate of CDH highlight the need for further etiological,epidemiological,and clinical studies among the Chinese population.

Two congenital coronary abnormalities affecting heart function： anomalous origin of the left coronary artery from the pulmonary artery and congenital left main coronary artery atresia

Background The anomalous origin of the left coronary artery （LCA） from the pulmonary artery （ALCAPA） and congenital left main coronary artery atresia （CLMCA-A） are two kinds of very rare coronary heart diseases which affect heart function profoundly.This study aimed to retrospectively illustrate the clinical features and therapy experience of ALCAPA and CLMCA-A patients.Methods From April 1984 to July 2012,in Beijing Anzhen Hospital,23 patients were diagnosed with ALCAPA and 4 patients with CLMCA-A.We summarized the clinical data of the 27 cases and retrospectively analyzed the clinical manifestation,diagnosis,and treatments of these two kinds of congenital coronary abnormalities.Results The 23 patients （13 males and 10 females,aged ranging from 2.5 months to 65 years） identified with ALCAPA were classified into infantile type （age of onset younger than 12 months,16 cases） and adult type （age of onset older than 12 months,7 cases）.Four patients were diagnosed with CLMCA-A （three males and one female,aged ranging from 3 months to 2 years）.The main clinical manifestations of infantile-type ALCAPA and CLMCA-A include repeated respiratory tract infection,heart failure,dyspnea,feeding intolerance,diaphoresis,and failure to thrive.And these two congenital coronary abnormalities might be misdiagnosed as endocardial fibroelastosis,dilated cardiomyopathy,and acute myocardial infarction.As for the adult-type ALCAPA,cardiac murmurs and discomfort of the precordial area are the most common presentations and might be misdiagnosed as coronary heart disease,myocarditis,or patent ductus arteriosus.In ECG examination：Infantile-type ALCAPA and CLMCA-A showed abnormal Q waves with T wave inversion in leads I,avL,and V4-V6,especially in lead avL.However,ECG of adult-type ALCAPA lacked distinct features.In chest radiography：pulmonary congestion and cardiomegaly were the most common findings in infantile-type ALCAPA and CLMCA-A,while pulmonary artery segment dilation was more common in adult type.In echocardiography,the common features of infantile-type ALCAPA and CLMCA-A included left ventricular enlargement,left ventricular systolic function normal or mildly reduced in CLMCA-A or significantly reduced in ALCAPA,and moderate to large mitral valve.It was performed in 9 of 23 cases of ALCAPA and showed the origin of the dilated right coronary artery （RCA） from the right sinus of the aortic root and absence of LCA origin in angiography.After opacification of RCA,reverse flow in the LCA and pulmonary artery was visualized through coronary artery collateral circulation.Angio was performed in three of the four cases of CLMCA-A and showed left main coronary artery was a blind end,with diameter of only 1.1-2.0 mm.Treatment and prognosis：21 patients with ALCAPA had cardiac surgery and 6 of them died postoperatively.Fifteen postoperative patients survived without overt symptoms within the follow-up period of 6-166 months （median 17 months）.As for treatment of CLMCA-A,four patients took digoxin and diuretics without undergoing cardiac surgery.Their clinical symptoms improved during the close follow-ups.Conclusions ALCAPA and CLMCA-A are two rare coronary artery abnormalities that affect cardiac function in infants and children.In younger patients with cardiomegaly and heart dysfunction these two congenital coronary diseases should be noticed.

Isolated Aplasia Cutis Congenita on Left Foot in Chinese Neonate

Aplasia Cutis Congenita (ACC) is a rare condition characterized by absence of skin layers, usually on the scalp, but can also affect the foot. ACC can occur as an isolated condition or in the presence of the other congenital anomalies. Here we describe a case of a 1-day-old baby boy with an isolated ACC of the left foot, with no family or siblings positive disease history. The patient was managed by both conservatively and surgically until the defect has formed scar tissue 5 months later.

Abnormal Femoral Origin of the Anterior Cruciate Ligament Associated with Osteochondritis Dissecans of the Medial Femoral Condyle

We report a case of abnormal meniscal-like anterior cruciate ligament (ACL), inserting at the 9 o’clock position just beside the cartilage of the lateral femoral condyle, in a stable knee associated with osteochondritis dissecans (OCD) of the medial femoral condyle.