A retrospective study on the cases with congenital cardiac disease and their risk factors applied to Pediatric Cardiology Clinic

A retrospective study on the cases with congenital cardiac disease and their risk factors applied to Pediatric Cardiology Clinic | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Research Article A retrospective study on the cases with congenital cardiac disease and their risk factors applied to Pediatric Cardiology Clinic Cihat Şanlı, Said Agaoglu, Yaşar Kandur This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-1617593/v1 This work is licensed under a CC BY 4.0 License Status: Posted Version 1 posted You are reading this latest preprint version Abstract Many cases of congenital heart disease are multifactorial and result from a combination of genetic predisposition and an as-yet-to-be-determined environmental stimulus. The purpose of the study is to determine the patients who were diagnosed with CHD through echocardiography and to reveal the risk factors that may cause congenital heart anomalies in our center since 2010. The medical records of pediatric patients applied to our pediatric cardiology clinic between 2010–2017 were retrospectively reviewed. A total of 14,173 patients applied to our clinic between 2010–2017. One hundred and fourteen cases diagnosed with CHD by ECHO performed by a pediatric cardiologist were detected. Sixty (52.6%) of the cases were female and 54 (47.4) were male. Seventy-seven of the 114 patients included in the study were acyanotic (67.5%) and 37 (32.5%) were cyanotic. Seventeen of the aycanotic patients had mixed CHD. The mean maternal gestational age was 28.2+/-5.78 years. 26 (22.8%) were born preterm. Seventeen (14,9%) patients were born with low birth weight (under 2500 g). Eight (7%) patients were LGA (large for gestational age) (birth weight over 4000 g). The average birth weight was 2,982.8+/-740,87 gr. Consanguinity was found in the parents of 28 (24.5%) patients. There was a history of CHD in the relatives of 6 (5.2%) patients, siblings of 4 (3.5%) patients, and parents of 5 (4.3%) patients. Chromosomal abnormalities were found in 9 (7.9%) patients. Our study is a valuable contribution to the existing literature in that it showed that the frequency and distribution of congenital heart diseases have not changed in recent years, and its findings are compatible with the literature findings. Congenital heart disease Risk factors Recent years Introduction The term congenital heart disease (CHD) includes congenital, structural or functional abnormalities in the cardiovascular system that can be identified at birth or later. Congenital heart disease occurs in approximately 0.8% of live births [ 1 ]. Many cases of CHD are multifactorial and result from a combination of genetic predisposition and an as-yet-to-be-determined environmental stimulus. Although CHD is one of the most common major congenital anomalies, it is the group of diseases for which we have the least information about its causes. There are many risk factors that can cause CHD. Among these, consanguineous marriage, congenital heart disease of the mother, father or one of the family members, the gestational age of the mother, the birth weight of the baby, the diseases the mother had during or before pregnancy (DM, SLE…), the infections the mother had (rubella, mumps, toxoplasmosis…), the drugs used by the mother (thalidomide, lithium…), the mother's exposure to radiation during pregnancy, the mother's smoking or alcohol use, the mother's substance abuse (marijuana, heroin, cocaine) and the mother's nutritional status [ 2 ]. The purpose of the study is to determine the patients who were diagnosed with CHD through echocardiography and to reveal the risk factors that may cause congenital heart anomalies in our center since 2010. Material And Methods The medical records of pediatric patients applied to our pediatric cardiology clinic between 2010–2017 were retrospectively reviewed. Patent ductus arteriosus (PDA), mitral valve prolapse, physiological peripheral pulmonary stenosis and bicuspid aortic valve disease in preterm newborns were excluded from our study. Echocardiography was performed using “Vivid 3 Expert” and “Vivid 7 Pro ECO” devices of General Electric Medical Systems (United States) and probes of 3, 5, 7 MHz. All measurements were performed by the same pediatric cardiologist. In the measurements, images were taken in subcostal, parasternal long axis, short axis, apical four-chamber, five-chamber, and suprasternal positions, and hemodynamic functions were evaluated with M-mode, 2-dimensional and Doppler echocardiographic examinations. In addition, a tissue Doppler study was performed. American Society of Echocardiography recommendations [ 3 ] were taken as a reference for all measurements. Statistical analysis The Statistical Package for Social Science (SPSS) version 16.0 (IBM Corp., Armonk, NY) was used for all statistical analyses. The Ethics Committee of Kırıkkale University School of Medicine approved the study. Results A total of 14,173 patients applied to our clinic between 2010-2017. One hundred and fourteen cases diagnosed with CHD by ECHO performed by a pediatric cardiologist were detected. Sixty (52.6%) of the cases were female and 54 (47.4) were male. Out of 114 patients, 64 (54.3%) presented with a murmur (detected by the physician) while the remaining 50 patients (45.7%) were admitted for other reasons (such as bruising, respiratory distress, routine examination, and positive familial risk factors). Twenty-nine patients (25.4%) were diagnosed antenatally. Seventy-seven of the 114 patients included in the study were acyanotic (67.5%) and 37 (32.5%) were cyanotic. Seventeen of the aycanotic patients had mixed CHD. Nineteen of the cyanotic patients were male (51.3%) and 18 were female (48.7%). Forty-two (54.6%) of the acyanotic patients were female and 35% (45.4%) were male. The distribution of patients diagnosed with acyanotic, cyantoic, and mixed acyanotic CHD by type is shown on Table 1. Ventricular Septal Defect (VSD) was found to be the most common acyanotic anomaly (45 patients; 39.5%). Secundum type Atrial Septal Defect (ASD) was detected in 14 patients (12.2%), and PDA was detected in 12 patients (10.5%). Isolated VSD was also the most common acyanotic anomaly (n=29 patients, 25.4%).The most common mixed acyanotic anomaly was VSD-ASD (7 patients, 6.1%). Tetralogy of Fallot (TOF) was the most common cyanotic anomaly (10 patients; 8.7%). Tricuspid atresia (TA) was detected in 5 patients (4.3%). Transposition of Great Arteries (TGA) was detected in 6 patients (5.2%), of which 4 were male. Risk factors that may cause (detected) congenital heart diseases of 114 patients whose anamnesis was taken were shown on Table 2. The mean maternal gestational age was 28.2+/-5.78 years. Eighty-eight (77,2%) patients were born at term, and 26 (22.8%) were born preterm. Seventeen (14,9 %) patients were born with low birth weight (under 2500 g). Eight (7%) patients were LGA (large for gestational age) (birth weight over 4000 g). The average birth weight was 2,982.8+/-740,87 gr. Consanguinity was found in the parents of 28 (24.5%) patients; and there was first-degree consanguinity in the parents of 18 patients (15.8%), and distant relatives in the parents of 10 patients (8.8%). There was a history of CHD in the relatives of 6 (5.2%) patients, siblings of 4 (3.5%) patients, and parents of 5 (4.3%) patients. Chromosomal abnormalities were found in 9 (7.9%) patients; 5 had Down Syndrome, 2 had Di George Syndrome, 1 Turner Syndrome and 1 Edward Syndrome. Two of Down Syndrome patients had AV septal defect and 2 had VSD. Complicated ASD+VSD+PDA was detected in patients with Edward syndrome. Six (5.2%) mothers had a history of chronic diabetes mellitus, 2 (1.8%) had a history of blood pressure disease and antihypertensive drug use, 4 (3.5%) had preeclampsia, and 8 (7%) had hypothyroidism with a history of levothyroxine use. Hashimoto's thyroiditis was detected in 5 patients with hypothyroidism. At least 57 (50%) patients had a history of regular folic acid and multivitamin use during pregnancy. Table 1 Distribution of Congenital Heart Diseases in the study population Isolated Acynotic defects N=60 N Mixed Acyanotic defects N=17 N Cyanotic defects N=37 N VSD 29 VSD+ASD 7 Tetralogy of Fallot 10 Patents Ductus Arteriosus (PDA) 7 VSD+PDA 4 Transpoistion of Great Arteries 6 Aort Stenosis (AS) 6 VSD+PS 2 Tricuspid atresia 5 Atrioventricular septal defect 5 VSD+ASD+AC 1 Hypoplastic left heart syndrome 4 Aort Coarction (AC) 5 VSD+ASD+PDA 1 Hypoplastic right heart syndrome 3 Pulmonary stenosis (PS) 4 VSD+PS 1 Single ventricle 2 ASD 4 ASD+PS 1 Truncus arteriosus 2 Double outlet right ventricle 2 Total anomalous pulmonary venous return 2 Pulmonary atresia 1 Table : Supposed risk factors for Congenital Heart Disease Risk factor Mean maternal gestational age (year) 28+/-5,8 Low birth weight n (%) 17 (14,9) Consangiunity between parents n (%) 28 (24,5) Family History of CHD n (%) 6(5,2) Regular use of Folic acid supplement n (%) 57 (50) CHD in siblings n(%) 4 (3.5) Chronic disease in mother (DM) n(%) 6(5,2) Chromozomal anomaly n(%) 9 (7,9) Discussion It is thought that 85–90% of CHD cases are multifactorial (which result from an interaction of genetic and environmental factors). In approximately 8% of cases, a congenital heart anomaly can be associated with a genetic defect; however, in most cases, a genetic etiology cannot be determined [ 4 ]. It has been reported that there is a relationship between some anomalies and gender. In our patients there was a slight female preponderance (52,6%). The reason why acyanotic anomalies are more common in girls is the presence of anomalies such as VSD, PDA, ASD in this group, and these data are consistent with the information in the literature. It has been reported that spontaneous septal defect closure is more common in males than females [ 5 ]. According to a meta-analysis, the female gender is a risk factor for the presence of CHD in Down Syndrome [ 6 ]. On the other hand, there are studies reporting cyanotic anomalies being more frequently detected in males [ 2 ]. Biological gender differences in the structure of blood vessels and androgenic hormones may be responsible for gender differences in this regard [ 7 ]. Although the subjects included in the study presented due to reasons such as respiratory distress, cyanosis, familial risk factors or for routine examination, the most common reason for admission was cardiac murmur. Sixty-four (54.3%) patients presented with a murmur. In previous studies, the most common reason for cardiological consultation was also cardiac murmur [ 8 , 9 ]. In the study of Aydoğdu et al., VSD was the most common anomaly with a prevalence of 42.9%, and ASD was in the second most common anomaly with a prevalence of 37.5% [ 10 ]. In our study, VSD was the most common anomaly (39.5%) followed by ASD (12.2%), a finding which was partly consistent with the literature. The most common cyanotic anomaly was teratology of fallot (10 patients; 8.7%); tricuspid atresia was found in 5 (4.3%) patients, and TGA in 6 (5.2%). The fact that 4 of these 6 patients were male is in accordance with literature data indicating that serious and complex heart defects are more common in males [ 2 ]. In our study, consanguinity was found between the parents of 28 (24.5%) patients; It was determined that there was first-degree consanguinity among the parents of 18 patients (15.7%), and distant consanguinity between the parents of 10 patients (8.8%). In a study conducted by Güven et al. [ 11 ] in 2002–2003 on CHD in newborn clinics, it was found that 15% of infants with CHD had a family history of consanguineous marriage between their parents, with most of these relationships being first-degree consanguinity. Having a higher rate of consanguinity, 15.7% of our patients’ parents were first-degree relatives. These data are partly consistent with the data on first-degree consanguineous marriage in the study of Güven et al., which suggests that first-degree consanguineous marriage may be influential in the etiology of CHD. The recurrence risk for CHD increases two- to threefold when there is a family history. This shows that CHD can be transmitted by Mendelian inheritance [ 12 ]. In the literature, it has been shown that having CHD in the family is a risk factor for CHD in subsequent children [ 13 ]. In our study, 6 (5.2%) patients had a history of CHD in their relatives, 4 (3.5%) in their siblings, and 5 (4.3%) in their parents. Congenital heart disease is seen more frequently in some single gene defects and chromosomal abnormalities; for example, approximately 40% of children with Down Syndrome have overt heart disease, 50% of which can be congenital heart diseases such as endocardial pillow defect, VSD, PDA, and TOF [ 14 ]. In our study, a chromosomal anomaly was found in 9 (7.9%) patients. Of these patients, 5 had Down Syndrome, 2 had Di George Syndrome, 1 had Turner Syndrome and 1 had Edward Syndrome. In a study by Park et al., endocardial cushion defect (43%) was the most common anomaly in patients with Down syndrome, followed by VSD (32%) [ 15 ]. In a study by Meberg et al. [ 16 ], Edwards Syndrome was detected 2.1% (58%), in the study of Dorfman et al. 0.5% [ 9 ]. In our study, Edwards Syndrome was found at a rate of 0.87%. In Down syndrome patients, there is overexpression of the DSCAM (Down syndrome cell adhesion molecule) gene that creates an imbalance in the epithelial-mesenchymal transformation that leads to a defect in mesenchymal migration and proliferation that causes CHD [ 17 ]. Compared to normal babies born in the same gestational week, low-birth-weight babies are more likely to have ASD, VSD, tetralogy of Fallot, hypoplastic left heart syndrome, pulmonary stenosis, or aortic coarctation {18,19]. In a study performed by Kadivar et al., the mean gestational age was 38 weeks, the mean birth weight was 2812 g, and the number of prematurity was 41 (16.9%) [ 8 ]. In the study of Aydoğdu et al., the mean birth weight was 2961 g, and 18% of the cases were prematüre [ 9 ]. In our study, 26 (22.8%) patients were preterm, 17 (14.9%) were low birth weight (under 2500 g), and the mean birth weight was 2.982+/ -740 g. The high rate of low-birth weight and high mean maternal gestational age suggests that these two factors may be influential in the etiology of CHD. Besides comorbidities are also effective risk factors. Maternal diabetes increases the incidence of congenital heart disease. If the mother has insulin-dependent diabetes mellitus, anomalies such as VSD, TOF and great vessel transposition may develop. In the study of Kadivar et al. [ 8 ], 9% of patients diagnosed with CHD were born to diabetic mothers. In our study, 6 of the patients (5.2%) had a maternal history of insulin-dependent diabetes mellitus, 2 (1.8%) had a maternal history of hypertension and antihypertensive drug use, and 4 (3.5%) had a maternal history of preeclampsia. Both maternal hypertension and diabetes affect maternal metabolism and cause endothelial dysfunction, which leads to CHD. It has been shown that folic acid deficiency increases the risk of cardiovascular anomalies in the fetus [ 20 ]. Therefore, it is recommended that folic acid supplements be administered to mothers starting one month prior to pregnancy and for two months after the start of pregnancy [ 20 ]. In our study, although the mothers of at least 57 (50%) patients regularly used iron, folic acid, and multivitamins during pregnancy, it was determined that many mothers either used folic acid irregularly or did not use it at all. Conclusion Our study is a valuable contribution to the existing literature in that it showed that the frequency and distribution of congenital heart diseases have not changed in recent years, and its findings are compatible with the literature findings. Families who have a child with a congenital heart anomaly should receive genetic counseling due to a possible cardiac anomaly in the next child; in addition, people who will get married should be informed about CHD, and a good maternal care should be provided before pregnancy Abbreviations ASD Atrial Septal Defect CHD Congenital Heart Disease DSCAM Down syndrome cell adhesion molecule LGA Large for Gestational Age PDA Patent ductus arteriosus TGA Transposition of Great Arteries TOF Tetralogy of Fallot TA Tricuspid atresia VSD Ventricular Septal Defect e Declarations Conflict of interest : The authors have no fnancial or other conficts of interest to disclose Ethical Approval: This retrospective chart review study involving human participants was in accordance with the ethical standards of the institutional and National Research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. Funding : The authors did not receive support from any organization for the submitted work. The authors have no fnancial or proprietary interests in any material discussed in this article. References Nelson Textbook of Pediatrics,21 Edition Robert M. Kliegman Joseph St Geme (2019) Chapter 451. Epidemiology and Genetic Basis of Congenital Heart Disease .9336-9349 Abqari S, Gupta A, Shahab T, Rabbani MU, Ali SM, Firdaus U (2016) Profile and risk factors for congenital heart defects: A study in a tertiary care hospital. Ann Pediatr Cardiol. 9(3):216-221. Sanders SP, Colan SD, Cordes TM, Donofrio MT, Ensing GJ, Geva T, et al. (2005) American Society of Echocardiography; Society of Pediatric Echocardiography; American College of Cardiology Foundation; American Heart Association; American College of Physicians Task Force on Clinical Competence (ACC/AHA/AAP Writing Committee to Develop Training Recommendations for Pediatric Cardiology). ACCF/AHA/AAP recommendations for training in pediatric cardiology. Task force 2: pediatric training guidelines for noninvasive cardiac imaging endorsed by the American Society of Echocardiography and the Society of Pediatric Echocardiography. J Am Coll Cardiol. 46(7):1384-1388. Zaidi S, Brueckner M (2017) Genetics and Genomics of Congenital Heart Disease. Circ Res. 120(6):923-940 Warnes CA (2008) Sex Differences in Congenital Heart Disease. Circulation. 118: 3-5. Diogenes TCP, Mourato FA, de Lima Filho JL, Mattos SDS (2017) Gender differences in the prevalence of congenital heart disease in Down's syndrome: a brief meta-analysis. BMC Med Genet. 18(1):111 Verheugt CL, Uiterwaal CS, van der Velde ET, et al. (2008) Gender and outcome in adult congenital heart disease. Circulation. 118: 26-32. Kadivar M, Kaini A, Kocharian A, et al. (2008) Echocardiography and management of sick neonates in the intensive care unit, Congenit Heart Dis. 3 (5): 325-329 Dorfman AT, Marino BS, Wernovsky G, et al. (2008) Critical heart disease in the neonate: presentation and outcome at a tertiary care center, Pediatric Critical Care Medicine 9(2): 193-202 Aydoğdu S.A, Türkmen M, Özkan P. (2008) Adnan Menderes Üniversitesi yenidoğan yo-ğun bakım ünitesinde izlenen bebeklerde doğumsal kalp hastalığı s ıklığı, Journal of Adnan Menderes Unıversity Medical Faculty; 9: 5-8 Güven H, Rahmi Bakiler A, Kozan M, Aydınlıoğlu H., Helvacı M, Dorak C. (2006) Yenidoğan servislerinde konjenital kalp hastalıkları. Çocuk Sağlığı ve Hast. Derg 49(1):8-11 Nora JJ, Nora AH. (1978) The evolution of specific genetic and environmental counseling in congenital heart diseases. Circulation. 57:205–213 Ul Haq F, Jalil F, Hashmi S, Jumani MI, Imdad A, Jabeen M, Hashmi JT, Irfan FB, Imran M, Atiq M. (2011) Risk factors predisposing to congenital heart defects. Ann Pediatr Cardiol. 4(2):117-121 .Muntha A, Moges T. (2019) Congenital Cardiovascular Anomalies among Cases of Down Syndrome: A Hospital Based Review of Cases in TikurAnbessa Specialized Hospital, Ethiopia. Ethiop J Health Sci. 29(2):165-174 Park SC, Mathews RA, Zuberbuhler JR, Rowe RD, Neches WH, Lenox CC. (1977) Down syndrome with congenital heart malformation. Am J Dis Child 131(1):29-33 Meberg A, Otterstad JE, Froland G, Sorland S. Children with congenital heart defects in Vestfold 1982-88. (1990) Increase in the incidence resulting from improved diagnostics methods. Tidsskr Nor Laegeforen 110: 354-357. Marder L, Tulloh R, Pascall E. (2015) Cardiac problems in Down syndrome. Paediatrics and Child Health. 25(1):23–29. Morris CD.(2004) Lessons from epidemiology for the care of women with congenital heart disease. Prog Pediatr Cardiol 19(1): p.5-13. Rosenthal GL, Wilson PD, Permutt T, Boughman JA, Ferencz C. (1991) Birth weight and cardiovascular malformations: a population-based study. Am J Epidemiol 133(12), pp. 1273–1281. Czeizel AE, Dudás I, Vereczkey A, Bánhidy F. (2013) Folate deficiency and folic acid supplementation: the prevention of neural-tube defects and congenital heart defects. Nutrients. 5(11):4760-4775 Additional Declarations Competing interest reported. The authors have no fnancial or other conficts of interest to disclose Cite Share Download PDF Status: Posted Version 1 posted You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. 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Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-1617593","acceptedTermsAndConditions":true,"allowDirectSubmit":true,"archivedVersions":[],"articleType":"Research Article","associatedPublications":[],"authors":[{"id":103201805,"identity":"c9871c9f-1fab-4e94-bfa0-935f4d214be7","order_by":0,"name":"Cihat Şanlı","email":"","orcid":"","institution":"Kirikkale University","correspondingAuthor":false,"prefix":"","firstName":"Cihat","middleName":"","lastName":"Şanlı","suffix":""},{"id":103201806,"identity":"acea2b94-440b-4bd8-be03-959a37cc1b28","order_by":1,"name":"Said Agaoglu","email":"","orcid":"","institution":"Kirikkale University","correspondingAuthor":false,"prefix":"","firstName":"Said","middleName":"","lastName":"Agaoglu","suffix":""},{"id":103201807,"identity":"443367ad-c4ad-4f00-9053-1596ed81a73b","order_by":2,"name":"Yaşar Kandur","email":"data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAZAAAAAyAQMAAABI0h/eAAAABlBMVEX///8AAABVwtN+AAAACXBIWXMAAA7EAAAOxAGVKw4bAAAAz0lEQVRIiWNgGAWjYHACZiCu4eFnYGAjScsxOckGErUwGxscIFaLwfHjjw1+7mBL3Hwj+dmDDxUM8vxiBwhoOZNjnNh7RiZx2400c8MZZxgMZ85OIKDlQA7zAd42NqCWBDNp3jaGBIPbhLScf/744N825sTNM9K/EanlRoJxMm8b0PsSOUTaInnjjbGxbNsxOYkzb8okZ5yRIOwXvvPpjyXftgGjsj19m8SHCht5fmkCWhQOwFgCYJUS+JWDgHwDjMV/ALeqUTAKRsEoGNkAACC4RLvEVfLEAAAAAElFTkSuQmCC","orcid":"","institution":"Kirikkale University","correspondingAuthor":true,"prefix":"","firstName":"Yaşar","middleName":"","lastName":"Kandur","suffix":""}],"badges":[],"createdAt":"2022-05-02 20:14:01","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-1617593/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-1617593/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":21206853,"identity":"d1fe669a-32f5-4481-bf70-438e6d37c9e5","added_by":"auto","created_at":"2022-05-08 18:14:13","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":239868,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-1617593/v1/7ff59419-826e-4de2-9d6f-fdbbd05b34e1.pdf"}],"financialInterests":"Competing interest reported. The authors have no fnancial or other conficts of interest to disclose","formattedTitle":"A retrospective study on the cases with congenital cardiac disease and their risk factors applied to Pediatric Cardiology Clinic","fulltext":[{"header":"Introduction","content":"\u003cp\u003eThe term congenital heart disease (CHD) includes congenital, structural or functional abnormalities in the cardiovascular system that can be identified at birth or later. Congenital heart disease occurs in approximately 0.8% of live births [\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e]. Many cases of CHD are multifactorial and result from a combination of genetic predisposition and an as-yet-to-be-determined environmental stimulus. Although CHD is one of the most common major congenital anomalies, it is the group of diseases for which we have the least information about its causes. There are many risk factors that can cause CHD. Among these, consanguineous marriage, congenital heart disease of the mother, father or one of the family members, the gestational age of the mother, the birth weight of the baby, the diseases the mother had during or before pregnancy (DM, SLE\u0026hellip;), the infections the mother had (rubella, mumps, toxoplasmosis\u0026hellip;), the drugs used by the mother (thalidomide, lithium\u0026hellip;), the mother's exposure to radiation during pregnancy, the mother's smoking or alcohol use, the mother's substance abuse (marijuana, heroin, cocaine) and the mother's nutritional status [\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e]. The purpose of the study is to determine the patients who were diagnosed with CHD through echocardiography and to reveal the risk factors that may cause congenital heart anomalies in our center since 2010.\u003c/p\u003e"},{"header":"Material And Methods","content":"\u003cp\u003eThe medical records of pediatric patients applied to our pediatric cardiology clinic between 2010\u0026ndash;2017 were retrospectively reviewed. Patent ductus arteriosus (PDA), mitral valve prolapse, physiological peripheral pulmonary stenosis and bicuspid aortic valve disease in preterm newborns were excluded from our study. Echocardiography was performed using \u0026ldquo;Vivid 3 Expert\u0026rdquo; and \u0026ldquo;Vivid 7 Pro ECO\u0026rdquo; devices of General Electric Medical Systems (United States) and probes of 3, 5, 7 MHz. All measurements were performed by the same pediatric cardiologist. In the measurements, images were taken in subcostal, parasternal long axis, short axis, apical four-chamber, five-chamber, and suprasternal positions, and hemodynamic functions were evaluated with M-mode, 2-dimensional and Doppler echocardiographic examinations. In addition, a tissue Doppler study was performed. American Society of Echocardiography recommendations [\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e] were taken as a reference for all measurements.\u003c/p\u003e \u003cdiv id=\"Sec3\" class=\"Section2\"\u003e \u003ch2\u003eStatistical analysis\u003c/h2\u003e \u003cp\u003eThe Statistical Package for Social Science (SPSS) version 16.0 (IBM Corp., Armonk, NY) was used for all statistical analyses. The Ethics Committee of Kırıkkale University School of Medicine approved the study.\u003c/p\u003e \u003c/div\u003e"},{"header":"Results","content":"\u003cp\u003e\u0026nbsp; \u0026nbsp; \u0026nbsp; \u0026nbsp;A total of 14,173 patients applied to our clinic between 2010-2017. One hundred and fourteen cases diagnosed with CHD by ECHO performed by a pediatric cardiologist were detected. Sixty (52.6%) of the cases were female and 54 (47.4) were male. Out of 114 patients, 64 (54.3%) presented with a murmur (detected by the physician) while the remaining 50 patients (45.7%) were admitted for other reasons (such as bruising, respiratory distress, routine examination, and positive familial risk factors). Twenty-nine patients (25.4%) were diagnosed antenatally. Seventy-seven of the 114 patients included in the study were acyanotic (67.5%) and 37 (32.5%) were cyanotic. Seventeen of the aycanotic patients had mixed CHD. \u0026nbsp;Nineteen of the cyanotic patients were male (51.3%) and 18 were female (48.7%). Forty-two (54.6%) of the acyanotic patients were female and 35% (45.4%) were male.\u003c/p\u003e\n\u003cp\u003e\u0026nbsp; \u0026nbsp; The distribution of patients diagnosed with acyanotic, cyantoic, and mixed acyanotic CHD by type is shown on Table 1. Ventricular Septal Defect (VSD) was found to be the most common acyanotic anomaly (45 patients; 39.5%). Secundum type Atrial Septal Defect (ASD) was detected in 14 patients (12.2%), and PDA was detected in 12 patients (10.5%). Isolated VSD was also the most common acyanotic anomaly (n=29 patients, 25.4%).The most common mixed acyanotic anomaly was VSD-ASD \u0026nbsp;(7 patients, 6.1%).\u003c/p\u003e\n\u003cp\u003e\u0026nbsp; \u0026nbsp; \u0026nbsp; Tetralogy of Fallot (TOF) was the most common cyanotic anomaly (10 patients; 8.7%). Tricuspid atresia (TA) was detected in 5 patients (4.3%). Transposition of Great Arteries (TGA) was detected in 6 patients (5.2%), of which 4 were male.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026nbsp; \u0026nbsp; \u0026nbsp;Risk factors that may cause (detected) congenital heart diseases of 114 patients whose anamnesis was taken were shown on Table 2. The mean maternal gestational age was 28.2+/-5.78 years. Eighty-eight (77,2%) patients were born at term, and 26 (22.8%) were born preterm. Seventeen (14,9 %) patients were born with low birth weight (under 2500 g). Eight (7%) patients were LGA (large for gestational age) (birth weight over 4000 g). The average birth weight was 2,982.8+/-740,87 gr. Consanguinity was found in the parents of 28 (24.5%) patients; and there was first-degree consanguinity in the parents of 18 patients (15.8%), and distant relatives in the parents of 10 patients (8.8%). There was a history of CHD in the relatives of 6 (5.2%) patients, siblings of 4 (3.5%) patients, and parents of 5 (4.3%) patients. Chromosomal abnormalities were found in 9 (7.9%) patients; 5 had Down Syndrome, 2 had Di George Syndrome, 1 Turner Syndrome and 1 Edward Syndrome. Two of Down Syndrome patients had AV septal defect and 2 had VSD. Complicated ASD+VSD+PDA was detected in \u0026nbsp;patients with Edward syndrome. Six (5.2%) mothers had a history of chronic diabetes mellitus, 2 (1.8%) had a history of blood pressure disease and antihypertensive drug use, 4 (3.5%) had preeclampsia, and 8 (7%) had hypothyroidism with a history of levothyroxine use. Hashimoto\u0026apos;s thyroiditis was detected in 5 patients with hypothyroidism. At least 57 (50%) patients had a history of regular folic acid and multivitamin use during pregnancy.\u003c/p\u003e\n\u003cp style=\"text-align: center;\"\u003e\u003cstrong\u003eTable 1\u003c/strong\u003e\u003c/p\u003e\n\u003cp style=\"text-align: center;\"\u003e\u003cstrong\u003e\u0026nbsp;Distribution of Congenital Heart Diseases in the study population\u003c/strong\u003e\u003c/p\u003e\n\u003ctable border=\"1\" cellpadding=\"0\" cellspacing=\"0\" width=\"0\"\u003e\n \u003ctbody\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" width=\"20.029239766081872%\"\u003e\n \u003cp\u003e\u003cstrong\u003eIsolated Acynotic defects\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"11.11111111111111%\"\u003e\n \u003cp\u003e\u003cstrong\u003eN=60\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n \u003cp\u003e\u003cstrong\u003eN\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"19.29824561403509%\"\u003e\n \u003cp\u003e\u003cstrong\u003eMixed Acyanotic defects \u0026nbsp; \u0026nbsp; \u0026nbsp; \u0026nbsp; \u0026nbsp; \u0026nbsp; \u0026nbsp; \u0026nbsp; \u0026nbsp; \u0026nbsp; \u0026nbsp; \u0026nbsp; \u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003e\u003cstrong\u003eN=17\u003c/strong\u003e\u003c/p\u003e\n \u003cp\u003e\u003cstrong\u003eN\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003e\u003cstrong\u003eCyanotic defects\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003e\u003cstrong\u003eN=37\u003c/strong\u003e\u003c/p\u003e\n \u003cp\u003e\u003cstrong\u003eN\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" width=\"20.029239766081872%\"\u003e\n \u003cp\u003eVSD\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"11.11111111111111%\"\u003e\n \u003cp\u003e29\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"19.29824561403509%\"\u003e\n \u003cp\u003eVSD+ASD\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003eTetralogy of Fallot\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003e10\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" width=\"20.029239766081872%\"\u003e\n \u003cp\u003ePatents Ductus Arteriosus (PDA)\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"11.11111111111111%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"19.29824561403509%\"\u003e\n \u003cp\u003eVSD+PDA\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003e4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003eTranspoistion of Great Arteries\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" width=\"20.029239766081872%\"\u003e\n \u003cp\u003eAort Stenosis (AS)\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"11.11111111111111%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"19.29824561403509%\"\u003e\n \u003cp\u003eVSD+PS\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003e2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003eTricuspid atresia\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" width=\"20.029239766081872%\"\u003e\n \u003cp\u003eAtrioventricular septal defect\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"11.11111111111111%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"19.29824561403509%\"\u003e\n \u003cp\u003eVSD+ASD+AC\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003e1\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003eHypoplastic left heart syndrome\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003e4\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" width=\"20.029239766081872%\"\u003e\n \u003cp\u003eAort Coarction (AC)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"11.11111111111111%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"19.29824561403509%\"\u003e\n \u003cp\u003eVSD+ASD+PDA\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003e1\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003eHypoplastic right heart syndrome\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003e3\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" width=\"20.029239766081872%\"\u003e\n \u003cp\u003ePulmonary stenosis (PS)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"11.11111111111111%\"\u003e\n \u003cp\u003e4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"19.29824561403509%\"\u003e\n \u003cp\u003eVSD+PS\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003e1\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003eSingle ventricle\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003e2\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" width=\"20.029239766081872%\"\u003e\n \u003cp\u003eASD\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"11.11111111111111%\"\u003e\n \u003cp\u003e4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"19.29824561403509%\"\u003e\n \u003cp\u003eASD+PS\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003e1\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003eTruncus arteriosus\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003e2\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" width=\"20.029239766081872%\"\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"11.11111111111111%\"\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"19.29824561403509%\"\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003eDouble outlet right ventricle\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003e2\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" width=\"20.029239766081872%\"\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"11.11111111111111%\"\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"19.29824561403509%\"\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003eTotal anomalous pulmonary venous return\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003e2\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" width=\"20.029239766081872%\"\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"11.11111111111111%\"\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"19.29824561403509%\"\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003ePulmonary atresia\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"16.52046783625731%\"\u003e\n \u003cp\u003e1\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003c/tbody\u003e\n\u003c/table\u003e\n\u003cp\u003e\u0026nbsp;\u0026nbsp;\u003c/p\u003e\n\u003cp style=\"text-align: center;\"\u003e\u003cstrong\u003eTable : Supposed risk factors for Congenital Heart Disease\u003c/strong\u003e\u003c/p\u003e\n\u003ctable border=\"1\" cellpadding=\"0\" cellspacing=\"0\" style=\"border-collapse: collapse; margin: 0px auto;\" width=\"0\"\u003e\n \u003ctbody\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" width=\"59.950248756218905%\"\u003e\n \u003cp\u003e\u003cstrong\u003eRisk factor\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"40.049751243781095%\"\u003e\n \u003cp\u003e\u003cstrong\u003e\u003csub\u003e\u0026nbsp;\u003c/sub\u003e\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" width=\"59.950248756218905%\"\u003e\n \u003cp\u003eMean maternal gestational age (year)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"40.049751243781095%\"\u003e\n \u003cp\u003e28+/-5,8\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" width=\"59.950248756218905%\"\u003e\n \u003cp\u003eLow birth weight n (%)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"40.049751243781095%\"\u003e\n \u003cp\u003e17 (14,9)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" width=\"59.950248756218905%\"\u003e\n \u003cp\u003eConsangiunity between parents n (%)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"40.049751243781095%\"\u003e\n \u003cp\u003e28 (24,5)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" width=\"59.950248756218905%\"\u003e\n \u003cp\u003eFamily History of CHD n (%)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"40.049751243781095%\"\u003e\n \u003cp\u003e6(5,2)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" width=\"59.950248756218905%\"\u003e\n \u003cp\u003eRegular use of Folic acid supplement\u0026nbsp;\u003c/p\u003e\n \u003cp\u003en (%)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"40.049751243781095%\"\u003e\n \u003cp\u003e57 (50)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" width=\"59.950248756218905%\"\u003e\n \u003cp\u003eCHD in siblings n(%)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"40.049751243781095%\"\u003e\n \u003cp\u003e4 (3.5)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" width=\"59.950248756218905%\"\u003e\n \u003cp\u003eChronic disease in mother (DM) n(%)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"40.049751243781095%\"\u003e\n \u003cp\u003e6(5,2)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" width=\"59.950248756218905%\"\u003e\n \u003cp\u003eChromozomal anomaly n(%)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" width=\"40.049751243781095%\"\u003e\n \u003cp\u003e9 (7,9)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003c/tbody\u003e\n\u003c/table\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e"},{"header":"Discussion","content":"\u003cp\u003eIt is thought that 85\u0026ndash;90% of CHD cases are multifactorial (which result from an interaction of genetic and environmental factors). In approximately 8% of cases, a congenital heart anomaly can be associated with a genetic defect; however, in most cases, a genetic etiology cannot be determined [\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e].\u003c/p\u003e \u003cp\u003eIt has been reported that there is a relationship between some anomalies and gender. In our patients there was a slight female preponderance (52,6%). The reason why acyanotic anomalies are more common in girls is the presence of anomalies such as VSD, PDA, ASD in this group, and these data are consistent with the information in the literature. It has been reported that spontaneous septal defect closure is more common in males than females [\u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e]. According to a meta-analysis, the female gender is a risk factor for the presence of CHD in Down Syndrome [\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e]. On the other hand, there are studies reporting cyanotic anomalies being more frequently detected in males [\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e]. Biological gender differences in the structure of blood vessels and androgenic hormones may be responsible for gender differences in this regard [\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e].\u003c/p\u003e \u003cp\u003eAlthough the subjects included in the study presented due to reasons such as respiratory distress, cyanosis, familial risk factors or for routine examination, the most common reason for admission was cardiac murmur. Sixty-four (54.3%) patients presented with a murmur. In previous studies, the most common reason for cardiological consultation was also cardiac murmur [\u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e8\u003c/span\u003e, \u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e].\u003c/p\u003e \u003cp\u003eIn the study of Aydoğdu et al., VSD was the most common anomaly with a prevalence of 42.9%, and ASD was in the second most common anomaly with a prevalence of 37.5% [\u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e10\u003c/span\u003e]. In our study, VSD was the most common anomaly (39.5%) followed by ASD (12.2%), a finding which was partly consistent with the literature. The most common cyanotic anomaly was teratology of fallot (10 patients; 8.7%); tricuspid atresia was found in 5 (4.3%) patients, and TGA in 6 (5.2%). The fact that 4 of these 6 patients were male is in accordance with literature data indicating that serious and complex heart defects are more common in males [\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e].\u003c/p\u003e \u003cp\u003e In our study, consanguinity was found between the parents of 28 (24.5%) patients; It was determined that there was first-degree consanguinity among the parents of 18 patients (15.7%), and distant consanguinity between the parents of 10 patients (8.8%). In a study conducted by G\u0026uuml;ven et al. [\u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e11\u003c/span\u003e] in 2002\u0026ndash;2003 on CHD in newborn clinics, it was found that 15% of infants with CHD had a family history of consanguineous marriage between their parents, with most of these relationships being first-degree consanguinity. Having a higher rate of consanguinity, 15.7% of our patients\u0026rsquo; parents were first-degree relatives. These data are partly consistent with the data on first-degree consanguineous marriage in the study of G\u0026uuml;ven et al., which suggests that first-degree consanguineous marriage may be influential in the etiology of CHD.\u003c/p\u003e \u003cp\u003eThe recurrence risk for CHD increases two- to threefold when there is a family history. This shows that CHD can be transmitted by Mendelian inheritance [\u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e12\u003c/span\u003e]. In the literature, it has been shown that having CHD in the family is a risk factor for CHD in subsequent children [\u003cspan citationid=\"CR13\" class=\"CitationRef\"\u003e13\u003c/span\u003e]. In our study, 6 (5.2%) patients had a history of CHD in their relatives, 4 (3.5%) in their siblings, and 5 (4.3%) in their parents.\u003c/p\u003e \u003cp\u003eCongenital heart disease is seen more frequently in some single gene defects and chromosomal abnormalities; for example, approximately 40% of children with Down Syndrome have overt heart disease, 50% of which can be congenital heart diseases such as endocardial pillow defect, VSD, PDA, and TOF [\u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e14\u003c/span\u003e]. In our study, a chromosomal anomaly was found in 9 (7.9%) patients. Of these patients, 5 had Down Syndrome, 2 had Di George Syndrome, 1 had Turner Syndrome and 1 had Edward Syndrome. In a study by Park et al., endocardial cushion defect (43%) was the most common anomaly in patients with Down syndrome, followed by VSD (32%) [\u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e]. In a study by Meberg et al. [\u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e16\u003c/span\u003e], Edwards Syndrome was detected 2.1% (58%), in the study of Dorfman et al. 0.5% [\u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e]. In our study, Edwards Syndrome was found at a rate of 0.87%. In Down syndrome patients, there is overexpression of the DSCAM (Down syndrome cell adhesion molecule) gene that creates an imbalance in the epithelial-mesenchymal transformation that leads to a defect in mesenchymal migration and proliferation that causes CHD [\u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e17\u003c/span\u003e].\u003c/p\u003e \u003cp\u003eCompared to normal babies born in the same gestational week, low-birth-weight babies are more likely to have ASD, VSD, tetralogy of Fallot, hypoplastic left heart syndrome, pulmonary stenosis, or aortic coarctation {18,19]. In a study performed by Kadivar et al., the mean gestational age was 38 weeks, the mean birth weight was 2812 g, and the number of prematurity was 41 (16.9%) [\u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e8\u003c/span\u003e]. In the study of Aydoğdu et al., the mean birth weight was 2961 g, and 18% of the cases were premat\u0026uuml;re [\u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e]. In our study, 26 (22.8%) patients were preterm, 17 (14.9%) were low birth weight (under 2500 g), and the mean birth weight was 2.982+/ -740 g. The high rate of low-birth weight and high mean maternal gestational age suggests that these two factors may be influential in the etiology of CHD. Besides comorbidities are also effective risk factors. Maternal diabetes increases the incidence of congenital heart disease. If the mother has insulin-dependent diabetes mellitus, anomalies such as VSD, TOF and great vessel transposition may develop. In the study of Kadivar et al. [\u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e8\u003c/span\u003e], 9% of patients diagnosed with CHD were born to diabetic mothers. In our study, 6 of the patients (5.2%) had a maternal history of insulin-dependent diabetes mellitus, 2 (1.8%) had a maternal history of hypertension and antihypertensive drug use, and 4 (3.5%) had a maternal history of preeclampsia. Both maternal hypertension and diabetes affect maternal metabolism and cause endothelial dysfunction, which leads to CHD.\u003c/p\u003e \u003cp\u003eIt has been shown that folic acid deficiency increases the risk of cardiovascular anomalies in the fetus [\u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e20\u003c/span\u003e]. Therefore, it is recommended that folic acid supplements be administered to mothers starting one month prior to pregnancy and for two months after the start of pregnancy [\u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e20\u003c/span\u003e]. In our study, although the mothers of at least 57 (50%) patients regularly used iron, folic acid, and multivitamins during pregnancy, it was determined that many mothers either used folic acid irregularly or did not use it at all.\u003c/p\u003e"},{"header":"Conclusion","content":"\u003cp\u003eOur study is a valuable contribution to the existing literature in that it showed that the frequency and distribution of congenital heart diseases have not changed in recent years, and its findings are compatible with the literature findings. Families who have a child with a congenital heart anomaly should receive genetic counseling due to a possible cardiac anomaly in the next child; in addition, people who will get married should be informed about CHD, and a good maternal care should be provided before pregnancy\u003c/p\u003e"},{"header":"Abbreviations","content":"\u003cp\u003eASD Atrial Septal Defect\u003c/p\u003e\n\u003cp\u003eCHD Congenital Heart Disease\u003c/p\u003e\n\u003cp\u003eDSCAM Down syndrome cell adhesion molecule\u003c/p\u003e\n\u003cp\u003eLGA Large for Gestational Age\u003c/p\u003e\n\u003cp\u003ePDA Patent ductus arteriosus\u003c/p\u003e\n\u003cp\u003eTGA Transposition of Great Arteries\u003c/p\u003e\n\u003cp\u003eTOF Tetralogy of Fallot\u003c/p\u003e\n\u003cp\u003eTA Tricuspid atresia\u003c/p\u003e\n\u003cp\u003eVSD Ventricular Septal Defect e\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cstrong\u003eConflict of interest\u003c/strong\u003e:\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eThe authors have no fnancial or other conficts of interest to disclose\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eEthical Approval:\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThis retrospective chart review study involving human participants was in accordance with the ethical standards of the institutional and National Research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eFunding\u003c/strong\u003e:\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eThe authors did not receive support from any organization for the submitted work. The authors have no fnancial or proprietary interests in any material discussed in this article.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\n \u003cli\u003eNelson Textbook of Pediatrics,21 Edition \u0026nbsp; Robert M. Kliegman Joseph St Geme (2019) Chapter 451. Epidemiology and Genetic Basis of Congenital Heart Disease .9336-9349\u003c/li\u003e\n \u003cli\u003eAbqari S, Gupta A, Shahab T, Rabbani MU, Ali SM, Firdaus U (2016) Profile and risk factors for congenital heart defects: A study in a tertiary care hospital. Ann Pediatr Cardiol. 9(3):216-221.\u003c/li\u003e\n \u003cli\u003eSanders SP, Colan SD, Cordes TM, Donofrio MT, Ensing GJ, Geva T, et al. (2005) American Society of Echocardiography; Society of Pediatric Echocardiography; American College of Cardiology Foundation; American Heart Association; American College of Physicians Task Force on Clinical Competence (ACC/AHA/AAP Writing Committee to Develop Training Recommendations for Pediatric Cardiology). ACCF/AHA/AAP recommendations for training in pediatric cardiology. Task force 2: pediatric training guidelines for noninvasive cardiac imaging endorsed by the American Society of Echocardiography and the Society of Pediatric Echocardiography. J Am Coll Cardiol. 46(7):1384-1388.\u003c/li\u003e\n \u003cli\u003eZaidi S, Brueckner M (2017) Genetics and Genomics of Congenital Heart Disease. Circ Res. 120(6):923-940\u0026nbsp;\u003c/li\u003e\n \u003cli\u003eWarnes CA (2008) Sex Differences in Congenital Heart Disease. Circulation. 118: 3-5.\u003c/li\u003e\n \u003cli\u003eDiogenes TCP, Mourato FA, de Lima Filho JL, Mattos SDS (2017) Gender differences in the prevalence of congenital heart disease in Down\u0026apos;s syndrome: a brief meta-analysis. BMC Med Genet. 18(1):111\u003c/li\u003e\n \u003cli\u003eVerheugt CL, Uiterwaal CS, van der Velde ET, et al. (2008) Gender and outcome in adult congenital heart disease. Circulation. 118: 26-32.\u003c/li\u003e\n \u003cli\u003eKadivar M, Kaini A, Kocharian A, et al. (2008) Echocardiography and management of sick neonates in the intensive care unit, Congenit Heart Dis. \u0026nbsp;3 (5): 325-329\u003c/li\u003e\n \u003cli\u003eDorfman AT, Marino BS, Wernovsky G, et al. (2008) Critical heart disease in the neonate: presentation and outcome at a tertiary care center, Pediatric Critical Care Medicine \u0026nbsp;9(2): 193-202\u003c/li\u003e\n \u003cli\u003e Aydoğdu S.A, T\u0026uuml;rkmen M, \u0026Ouml;zkan P. (2008) Adnan Menderes \u0026Uuml;niversitesi yenidoğan yo-ğun bakım \u0026uuml;nitesinde izlenen bebeklerde doğumsal kalp hastalığı s ıklığı, Journal of Adnan Menderes Unıversity Medical Faculty; 9: 5-8\u003c/li\u003e\n \u003cli\u003e G\u0026uuml;ven H, Rahmi Bakiler A, Kozan M, Aydınlıoğlu H., Helvacı M, Dorak C. (2006) Yenidoğan servislerinde konjenital kalp hastalıkları. \u0026Ccedil;ocuk Sağlığı ve Hast. Derg \u0026nbsp;49(1):8-11\u003c/li\u003e\n \u003cli\u003e Nora JJ, Nora AH. (1978) The evolution of specific genetic and environmental counseling in congenital heart diseases. Circulation. 57:205\u0026ndash;213\u003c/li\u003e\n \u003cli\u003e Ul Haq F, Jalil F, Hashmi S, Jumani MI, Imdad A, Jabeen M, Hashmi JT, Irfan FB, Imran M, Atiq M. (2011) Risk factors predisposing to congenital heart defects. Ann Pediatr Cardiol. 4(2):117-121\u003c/li\u003e\n \u003cli\u003e.Muntha A, Moges T. (2019) Congenital Cardiovascular Anomalies among Cases of Down Syndrome: A Hospital Based Review of Cases in TikurAnbessa Specialized Hospital, Ethiopia. Ethiop J Health Sci. 29(2):165-174\u003c/li\u003e\n \u003cli\u003e Park SC, Mathews RA, Zuberbuhler JR, Rowe RD, Neches WH, Lenox CC. (1977) Down syndrome with congenital heart malformation. Am J Dis Child 131(1):29-33\u003c/li\u003e\n \u003cli\u003e Meberg A, Otterstad JE, Froland G, Sorland S. Children with congenital heart defects in Vestfold 1982-88. (1990) Increase in the incidence resulting from improved diagnostics methods. Tidsskr Nor Laegeforen 110: 354-357. \u0026nbsp;\u003c/li\u003e\n \u003cli\u003e Marder L, Tulloh R, Pascall E. (2015) Cardiac problems in Down syndrome. Paediatrics and Child Health. 25(1):23\u0026ndash;29.\u003c/li\u003e\n \u003cli\u003e Morris CD.(2004) Lessons from epidemiology for the care of women with congenital heart disease. Prog Pediatr Cardiol 19(1): p.5-13.\u003c/li\u003e\n \u003cli\u003e Rosenthal GL, Wilson PD, Permutt T, Boughman JA, Ferencz C. (1991) Birth weight and cardiovascular malformations: a population-based study. Am J Epidemiol 133(12), pp. 1273\u0026ndash;1281.\u003c/li\u003e\n \u003cli\u003e Czeizel AE, Dud\u0026aacute;s I, Vereczkey A, B\u0026aacute;nhidy F. (2013) Folate deficiency and folic acid supplementation: the prevention of neural-tube defects and congenital heart defects. Nutrients. 5(11):4760-4775\u003c/li\u003e\n\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":true,"highlight":"","institution":"","isAcceptedByJournal":false,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true},"keywords":"Congenital heart disease, Risk factors ,Recent years","lastPublishedDoi":"10.21203/rs.3.rs-1617593/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-1617593/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003eMany cases of congenital heart disease are multifactorial and result from a combination of genetic predisposition and an as-yet-to-be-determined environmental stimulus. The purpose of the study is to determine the patients who were diagnosed with CHD through echocardiography and to reveal the risk factors that may cause congenital heart anomalies in our center since 2010. The medical records of pediatric patients applied to our pediatric cardiology clinic between 2010\u0026ndash;2017 were retrospectively reviewed. A total of 14,173 patients applied to our clinic between 2010\u0026ndash;2017. One hundred and fourteen cases diagnosed with CHD by ECHO performed by a pediatric cardiologist were detected. Sixty (52.6%) of the cases were female and 54 (47.4) were male. Seventy-seven of the 114 patients included in the study were acyanotic (67.5%) and 37 (32.5%) were cyanotic. Seventeen of the aycanotic patients had mixed CHD. The mean maternal gestational age was 28.2+/-5.78 years. 26 (22.8%) were born preterm. Seventeen (14,9%) patients were born with low birth weight (under 2500 g). Eight (7%) patients were LGA (large for gestational age) (birth weight over 4000 g). The average birth weight was 2,982.8+/-740,87 gr. Consanguinity was found in the parents of 28 (24.5%) patients. There was a history of CHD in the relatives of 6 (5.2%) patients, siblings of 4 (3.5%) patients, and parents of 5 (4.3%) patients. Chromosomal abnormalities were found in 9 (7.9%) patients. Our study is a valuable contribution to the existing literature in that it showed that the frequency and distribution of congenital heart diseases have not changed in recent years, and its findings are compatible with the literature findings.\u003c/p\u003e","manuscriptTitle":"A retrospective study on the cases with congenital cardiac disease and their risk factors applied to Pediatric Cardiology Clinic","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2022-05-05 16:19:31","doi":"10.21203/rs.3.rs-1617593/v1","editorialEvents":[{"type":"communityComments","content":0}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"42aa7e80-3ecc-44a8-ab9d-1d371aefce9d","owner":[],"postedDate":"May 5th, 2022","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"posted","subjectAreas":[],"tags":[],"updatedAt":"2022-05-08T18:14:05+00:00","versionOfRecord":[],"versionCreatedAt":"2022-05-05 16:19:31","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-1617593","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-1617593","identity":"rs-1617593","version":["v1"]},"buildId":"_2-kVJe1T_tPrBINL-cwx","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}