Сongenital diseases of the heart among newborn children: genetic aspects
Abstract
Congenital heart defects are a heterogeneous group of diseases that occur as isolation or a part of multiple birth defects, gene disorders or chromosomal abnormalities. Chromosomal abnormalities and its underlying syndromes are the cause of 6 to 36% of cases of congenital heart defects. Monogenic etiology is proven in about 8% of cases, and the main group - about 90% of the congenital heart defects is the result of an unfavorable combination of genetic predisposition and external factors. The causes of early neonatal infant mortality are dominated by incompatible birth defects: almost 26% of perinatal and neonatal deaths are associated with congenital child pathology. Heart defects compose about 30% of all birth defects. They rank first place among the diseases that lead to perinatal mortality and early disability. World statistics show that the incidence of birth defects in the world is 9 per 1000 newborns, in Europe - 8/1000, which is 4 times more frequent than neural tube defects and 6 times higher than chromosomal abnormalities. In Ukraine, about 5,000 children with congenital heart defects are born each year, and the total number of those children on dispensary records reaches more than 45,000. Knowledge about the prevalence of birth defects in the region is needed to develop new information markers of the risk of congenital pathology of the circulatory system for women of reproductive age. Data on the incidence of congenital heart defects of fetuses and newborns in the region will allow the creation of a database for follow-up studies, which will facilitate the timely identification of pregnant women at risk. This will improve the prognosis of pregnancy, reduce the level of perinatal pathology, which will have a significant medical and social effect. The data obtained will allow to create preconditions for improvement of approaches to the definition of risk groups of perinatal pathology, perfection of specialized care for pregnant women with risk of congenital heart defects of the fetus.
Downloads
References
Avramenko, T. V., Savchenko, S. Ye., Kolomiichenko, T. V. et al. (2012). Pregnancy and delivery in women with congenital fetal defects. Taurian Medico-Biological Bulletin, № 2, 11-14 [in Ukrainian].
Antypkin, Yu. H., Volosovets, O. P., Maidannyk, O. P. (2018). The health of the child population is the future of the country. 1. Child`s health, № 1, 11-21 [in Ukrainian].
Arbuzova, S. B., Hlazkova, I. V., Nikolenko, M. I. (2010). Principles of Prenatal Genetic Counseling. Perinatal ULTRASOUND DIAGNOSIS, № 29, 60 – 64 [in Ukrainian].
Ariaiev, M. L., Kotova, N.V., Hornostaieva, N. Yu. (2014). Pediatrics. Diseases of young children. Pulmonology. Allergology. Cardiology: Educ. tool, Odessa T. 2, 312 [in Ukrainian].
Balenko, L. M., Olefirenko, I. V. (2016). Defects in the development of the human body: causes of their occurrence. Medical Forum, № 9 (09), 8-10 [in Ukrainian].
Belova, YU. K., Dzhavadova, P. A. (2017). Surgical treatment of congenital heart defects in children at the present stage. Bulletin of the Council of Young Scientists and Specialists of the Chelyabinsk Region, № 2 (17), 43-45 [in Russian].
Belozerov, YU. M., Breguel, L. V., Subbotin, V. M. (2014). Rasprostranennost' vrozhdennyh porokov serdca u detej na sovremennom etape. Russian Bulletin of Perinatology and Pediatrics, T. 59, № 6, 7-11 [in Russian].
Bohuta, L.Yu., Rudenko, N. N., Yemets, I. N. (2013). Surgical treatment of congenital heart defects in infants. Modern pediatrics, №7, 145-147 [in Ukrainian].
Boskeriia, L. A., Stupakov, I. N., Hudkova, R. H., Ivanova, E. Yu. (2016). Congenital abnormalities (defects) of the circulatory system in the Russian population and their surgical treatment (2005–2014). Thoracic and cardiovascular surgery, № 58 (4), 202-206 [in Ukrainian].
Budnіk, A. F., Pshukova, E. M. (2013). Assessing the impact of women's health on the state of physical development of a newborn baby. Morphological statements, № 2, 94 – 97 [in Russian].
Veropotvelіan, P. N., Cekhmistrenko, I. S., Veropotvelіan, N. P., Glamazda, A. I. (2015). A modern approach to the conservation of reproductive potential. Woman's health, №9, 94-97 [in Ukrainian].
Verteletskіy, V., Yevtushok, B., Zymak-Zakutnia, N. et al. (2016). Birth defects, Polesie, Chernobyl. Neonatology, surgery and perinatal medicine, Т. VI, № 2(20), 5–14 [in Ukrainian].
Voevodin, S. M., Shemanaeva, T. V. (2018). Prevention of congenital malformations in the fetus (literature review). Modern problems of healthcare and medical statistics, № 2, 86-93 [in Russian].
Volosovets, O. P. (2015). State of medical care for children with cardio-rheumatological pathology. Child`s health, № 5, 125-133 [in Ukrainian].
Garelina, P. A., Tіumenkova, A. V., Perova, M. V. (2017). On the structure of congenital heart defects in children of the Arkhangelsk region. In the collection: Actual problems of medicine in Russia and abroad of the III international scientific-practical conference. 12-15 [in Russian].
Horbatiuk, O. M., Liatursnska, O. V. (2014). Organization and prospects of development of perinatal care in Ukraine. Neonatology, surgery and perinatal medicine, T.IV, № 4 (14), 5-10. [in Ukrainian].
Hrabar, V. V., Arbuzova, S. B., Feskov, O. M. (2015). Preconception and prenatal monitoring algorithms in families with impaired reproductive function. Bulletin of problems of biology and medicine, № 1, 121-126 [in Ukrainian].
Yemets, I. M. (2012). An innovative organizational approach to the treatment of critical birth defects. Modern pediatrics. № 5, 70-73 [in Ukrainian].
Zasypka, L. H. (2008). Influence on the reproductive function of a complex of environmental factors. Odessa Medical Journal, № 5(109), 31-33 [in Ukrainian].
Znamenska, T. K., Boichuk, T. M., Hodovanet,s Yu. D. (2013). Organization and prospects of development of perinatal care in Ukraine. Neonatology, surgery and perinatal medicine, T. III, № 1(7), 13 – 18 [in Ukrainian].
Іskakova, A. K., Makzhan, A. T., Kornіenko, Yu. Yu. et al. (2018). To the problem of risk factors for the development of congenital heart defects International Journal of Applied and Fundamental Research, № 5 (1), 104-107 [in Russian].
Kіrіllov, K. O., Nachinkin, V. V., Kim, A. I., Yurlov, I. A. (2014). Epidemiology of congenital heart disease and ways to optimize cardiac surgery in pediatric cardiovascular diseases in the Volgograd region. Children's heart and vascular diseases, № 2, 30-33 [in Ukrainian].
Klіmenko, T. M., Sorokolat, Yu. V., Karapetian, O. Yu. (2014). Reserves for the management of children with congenital heart defects. Perinatology and pediatrics, № 2, 106-109 [in Ukrainian].
Kovalenko, V. M., Dorohoi, A. P. (2016). Heart and Sudden Disease: Medical and Social Consciousness and Strategy Cardiology in Ukraine. Ukrainian Cardiology Journal, №4 (3), 5-14 [in Ukrainian].
Kovalenko, O. S., Lepokhina, H. S., Zazarkhov, O. Yu., Zlepko, S. M. (2016). Classification of risks of perinatal period of life of newborns. Environment & Health. № 4, 52-54 [in Ukrainian].
Korinets, Ya. M., Volkova, O. V., Shkolnіk, O. S. (2013). Prediction of pathology of the perinatal period in families with infertility in history. Actual problems of obstetrics and gynecology. Clinical Immunology and Medical Genetics: Proceedings. Lugansk, № 25, 41 – 53 [in Ukrainian].
Kosilova, S. Ye. (2016). Obstetric and perinatal complications as risk factors for fetal growth retardation. Bukovyna Medical Bulletin, Т.20, № 2 (78), 48-50 [in Ukrainian].
Kotsur, N. I. (2016). Environmental risks and human health: Current challenges and solutions. Young scientist, № 9.1(36.1), 91-94 [in Ukrainian].
Kuznecova, I. V., Konovalov, V. A. ( 2014). Folic acid and its role in female reproduction. Gynecology, № 4, 17–23 [in Russian].
Lazoryshynets, V. V. (2016). Tactical and Strategic Issues of Ukrainian Cardiac Surgery and Interventional Cardiology as Effective Instruments to Ensure a Contemporary Level of Assistance to the Cardiovascular Disease. Bulletin of cardiovascular surgery, № 3, 9-10 [in Ukrainian].
Lastivka, I. V., Shvyhar, L.V., Sharapa, V. I. (2015). Etiologic features of development of congenital heart defects. Modern tendencies of development of medical science and medical practice: materials of the international scientific-practical conference. Lviv, 50-52 [in Ukrainian].
Medvedeva, S. V., Zabolotskih, T. V., Danilova, N. B. (2016). Congenital heart defects in children of the city of Severodvinsk. Amur Medical Journal, № 2(14), 44-47 [in Russian].
Miroshnikova, I. V., Markov, ZH. G., Zolotuhina, T. V. (2011). Modern strategies for non-invasive prenatal screening. Medical genetics, № 4, 1114 [in Russian].
Timonin, M. B. (2016) Ukraine's population for 2015. Demographic Yearbook, State Statistics Service of Ukraine, Kyiv. 119 [in Ukrainian].
Pasiieshvili, N. M. (2016). Analysis of perinatal morbidity and mortality in the conditions of the perinatal center and ways to reduce it. Science Rise, Т.1, № 3 (18), 37- 43 [in Ukrainian].
Pidvіsotska, N. I. (2015). Current principles and problems of genetic genetic counseling. Clinical and experimental pathology, Т. ХІV, № 2(52), 244 – 247 [in Ukrainian].
Pishak, V.P., Rіznіchuk, M.O. (2013). Analysis of the prevalence of birth defects in newborns of Chernivtsi region according to genetic monitoring data. Ukraine. The nation's health, № 1 (25), 28-32 [in Ukrainian].
Podolskіy, V.V. (2013). The reproductive health of women is a major problem of today. Woman's health, № 1,100-102 [in Ukrainian].
Polka, O.O., Omelchenko, E.M., Kachko, G.O., Pedan, L.R. (2017). Folic acid in preventive medicine. Environment and Health, № 2, 22-25 [in Ukrainian].
Procіuk, O. V., Linchak, O. V., Sizonenko, O. V., Pokanevіch, T.M. (2013). Congenital malformations of the newborn. Questions of practical pediatrics. T.8, № 3, 8-12 [in Ukrainian].
Rudnіk, V. T. (2012). Anemia in pregnant women: effects on pregnancy and hematopoiesis. Bukovyna Medical Bulletin, Т.6, № 4(64), 141-145 [in Ukrainian].
Seidbekova, F. O. (2013). The incidence of congenital heart defects among newborns in Baku. Bulletin of problems of biology and medicine, № I, T.2 (99), 158-160 [in Ukrainian].
Senatorova, H. S., Honchar, M. O, Boichenko, A. D. (2013). Problems of diagnosis and monitoring of congenital heart defects in newborns. Taurian Medico-Biological Bulletin, T.16, № 3, 1 (63), 187-191 [in Ukrainian].
Senatorova, A. S., Honchar, M. A., Boichenko, A. D. (2013). Modern principles of diagnosis and management of newborns with congenital heart defects. Perinatology and pediatrics, № 1, 123-127 [in Ukrainian].
Senatorova, H. S., Honchar, M. O., Riha, O. O. (2014). Cardiovascular lesions of the perinatal period: mechanisms of development and directions of therapy. Neonatology, surgery and perinatal medicine, № 3, 37-44 [in Ukrainian].
Sіromakha, S. O., Rudenko, K. V., Zalevskіy, V. P. (2014). Experience in the treatment of critical birth defects and critical conditions caused by them. Bulletin of cardiovascular surgery. № 22, 320-325 [in Ukrainian].
Talalaiev, K. O., Babenko, V. A., Puchkova, H .V. (2017). Lifestyle as a key determinant of a nation's health. Socio-economic aspect. Odessa Medical Journal, № 6, 63-67 [in Ukrainian].
Tanchyn, I.A., Kuzyk, Yu. I, Omeliash, U. V., Haliuk, U. M. (2008). Analysis of congenital heart defects in newborns and children (according to the Lviv Oblast Pathological and Anatomical Bureau, 2001, 2003, 2005). Experiment. and clin. physiology and biochemistry, № 4, 76-78 [in Ukrainian].
Timchenko, O. I., Linchak, O. V., Procyuk, O. V. et al. (2014). Prevalence and risk factors for congenital malformations of newborns in Ukraine. Russian Bulletin of the Obstetrician-Gynecologist. № 14(4), 39-43 [in Ukrainian].
Tіmchenko, O. I., Lіnchak, O. V, Pokanevіch, T. M. (2012). Gene pool and health: family physician opportunities in the context of disease prevention. Kyiv, 70 [in Ukrainian].
Chaikovska, H. S., Hnateiko, O. Z., Dvorakevіch, A. A., Stenyk, R. V. (2014). Contribution of birth defects of the digestive system in the structure of infant mortality. Neonatology, surgery and perinatal medicine, № 1 (11), 57–60 [in Ukrainian].
Chepurnyh, E. E., Grigor'ev, E. G. (2014). Congenital heart defects. Siberian Medical Journal (Irkutsk). T. 126, № 3, 121-127 [in Russian].
Shabaldin, A. V., Cepokina, A. V., Shmulevich, S. A. et al. (2018). Influence of social, medical and environmental factors on the formation of sporadic congenital heart defects. Russian Bulletin of Perinatology and Pediatrics, № 63(1), 16-21 [in Russian].
Alenezi, A.M., Albawardi, N.M., Ali, A. et al. (2015). The epidemiology of congenital heart diseases in Saudi Arabia: а systematic review. Pub Health Epidemiol. №7(7), 232–240. doi: 10.5897/JPHE2015.0723.
Alverson, C.J., Strickland, M.J., Gilboa, S.M. et al. (2011) Maternal smoking and congenital heart defects in the Baltimore-Washington Infant Study. Pediatr. № 127(3), 47–e653. doi: 10.1542/peds.2010–1399
Bhardwaj, R., Rai, S.K., Yadav, А.К. et al. (2015). Epidemiology of congenital heart disease in India. Congenital heart disease. № 10 (5), 437-446.
Bhutta, Z.A., Das, J.K., Bahl, R. et al. (2014). Can available interventions end preventable deaths in mothers, newborn babies, and stillbirths, and at what cost? Lancet, Vol. 384 (9940), 347–370.
Borelli, M., Baer, R. J., Chambers, Ch.D., Smith, T.C. (2016). Critical congenital heart defects and abnormal levels of routinely collected first‐ and second‐trimester biomarkers. American Journal of Medical Genetics Part A. № 173(2), 368-374.
Czeizel, A.E., Dudas, I., Paput, L., Banhidy, F. (2011). Prevention of neural-tube defects with periconceptional folic acid, methylfolate, or multivitamins? Ann Nutr Metab. № 58 (4), 263–271.
Di, Yu., Yu, Feng., Lei, Yang. et al. (2014). Maternal Socioeconomic Status and the Risk of Congenital Heart Defects in Offspring: A Meta-Analysis of 33 Studies. Published: October 27, PLOS ONE. https://doi.org/10.1371/journal.pone.0111056.
Donofrio, M.T., Moon-Grady, A.J., Hornberger, L.K. et al. (2014). Diagnosis and treatment of fetal cardiac disease: a scientific statement from the American Heart. Circulation. №129, 218–242.
Dunn, E.C., Soare, T.W., Zhu, Y. et al. (2019). Sensitive Periods for the Effect of Childhood Adversity on DNA Methylation: Results from a Prospective, Longitudinal Study. Biological Psychiatry, Vol 85, 838-849.
Elkayam, U., Goland, S., Pieper, P.G. et al. (2016). High-Risk Cardiac Disease in Pregnancy: Part I. Am Coll Cardiol, Vol. 68(4), 396-410.
Heather, Y. , James, A., Rachel, T. (2018, July 18). Prenatal detection of critical cardiac outflow tract anomalies remains suboptimal despite revised obstetrical imaging guidelines. National Institutes of Health.V.13, I. 5, Grant Number: UL1TR001442, September/October, 748-756. https://doi.org/10.1111/chd.12648
Houyel, L., Khoshnood, B., Anderson, R.H. (2011). Population-based evaluation of a suggested anatomic and clinical classification of congenital heart defects based on the International Paediatric and Congenital Cardiac Code. Orphanet journal of rare diseases, V. 6 (1), 64.
Imbard, A., Benoist, J.F., Blom, H.J. (2013). Neural tube defects, folic acid and methylation. Int J Environ Res Public Health, № 10, 4352-4389.
Jansen, F.A., Blumenfeld, Y.J., Fisher, A. et al. (2015). Array comparative genomic hybridization and fetal congenital heart defects: a systematic review and meta-analysis. Ultrasound Obstet Gynecol, № 45, 27.
Kaleschke G., Baumgartner H. (2011). Pregnancy in congenital and valvular heart disease. Heart.Vol. 97 (21). 1803–1809;.
Klemetti, R., Gissler, M., Sainio, S. et al. (2016). At what age does the risk for adverse maternal and infant outcomes increase - nationwide register-based study on first births in Finland in 2005-2014? Acta Obstet Gynecol Scand, Vol. 13, 267.
Laas, E., Lelong, N., Thieulin, A.C. et al. (2012). Preterm birth and Congenital Heart Defects: A population based study. Pediatrics, 829-837.
Lindberg, H.L. (2012). Pediatric cardiac surgery and safety, in the past and in the future. Prog Pediatr Cardiol, №33(1), 11–13. doi: 10.1016/j.ppedcard.2011.12.002
Liu, X.K., Sang, H., Xiu, J.F., Li, X. et al. (2013). Prevalence of congenital heart disease in students of Lianshan prefecture in Sichuan province. Chinese journal of internal medicine, № 52 (6), 494-497.
Liu, Z., Li, X., Li, N. et all. (2013). Association between maternal exposure to housing renovation and offspring with congenital heart disease: a multi-hospital case-control study. Environ Health., № 12, 25.
Luz Maria De‐Regil, Juan Pablo Peña‐Rosas, Ana C Fernández‐Gaxiola Pura Rayco‐Solon. (2015, December 14). Effects and safety of periconceptional oral folate supplementation for preventing birth defects. Cochrane Systematic Review: Intervention Version published, DOI:10.1002/14651858.CD007950.pub3.
Maher, M., Keriakos, R. (2014, May 1). Women's Awareness of Periconceptional Use of Folic Acid Before and After Their Antenatal Visits. Clin Med Insights Womens Health, № 7, 9-15. doi: 10.4137/CMWH.S13535.
Marelli, A.J., Ionescu-Ittu, R., Mackie, A.S. et al. (2014). Lifetime prevalence of congenital heart disease in the general population from 2000 to 2010. Circulation, № 130 (9), 749 – 756.
McNulty, B., McNulty, H., Marshall, B. et al. (2013). Impact of continuing folic acid after the first trimester of pregnancy: findings of a randomized trial of Folic Acid Supplementation in the Second and Third Trimesters. Am J Clin Nutr. № 98, 92-98.
Miller, A., Riehle-Colarusso, T., Siffel, C. et al. (2011). Maternal age and prevalence of isolated congenital heart defects in an urban area of the United States. Am J Med Genet A, № 155A(9), 2137–2145. doi: 10.1002/ajmg.a.34130
Mozaffarian, D., Benjamin, E.J., Go, A.S. et al. (2016). Heart Disease and Stroke Statistics - 2016 Update: a report from the American Heart Association. Circulation, №.133(4), 360–380. doi: 10.1161/CIR.0000000000000350
Njim, T. N. (2016). Late Pregnancy Outcomes among Women who Attended and Women who did not Attend First Trimester Antenatal Care Visits in a Suburban Regional Hospital in Cameroon. Int J MCH AIDS, Vol. 5 (1), 14-23.
Ogundipe, O. (2012). Factors associated with prenatal folic acid and iron supplementation among 21,889 pregnant women in northern Tanzania: a cross-sectional hospital-based study. BMC Public Health, № 12, 481.
Oster, M. E., Lee, K. A., Honein, M. A. (2013). Temporal trends in survival among infants with critical congenital heart defects. Pediatrics, № 131(5), 1502–1508. doi: 10.1542/peds.2012–3435.
Page, J. M., Silver, R. M. (2016). Genetic Causes of Recurrent Pregnancy Loss. Clin Obstet Gynecol, № 59(3), 498-508.
Perera, F., Herbstman, J. (2011). Prenatal environmental exposures, epigenetics, and disease. Reprod. Toxicol, № 31(3), 363-73. doi:10.1016/j.reprotox. 2010.12.055
Pierpont, M.E., Brueckner, M., Chung, W.K. et al. (2018). Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association. Circulation, № 138, 653.
Reich, J. D., Haight, D., Reich, Z. S. (2017). A comparison of the incidence of undiagnosed congenital heart disease in hospital born and home born children. Journal of Neonatal-Perinatal Medicine, №10 (1), 71.
Richard, A. Jonas, R. (2014). Comprehensive surgical management of congenital heart disease. 2 edition. CRC Press. 704 .
Rosano, A., Botto, L. D., Botting, B. et al. (2010). Infant mortality and congenital anomalies from 1950 to 1994: An international perspective. Epidemiology Community Health, V. 54, 660-666.
Rossberg, N., Stangl, K., Stangl, V. (2016). Pregnancy and cardiovascular risk: A review focused on women with heart disease undergoing fertility treatment. Eur J Prev Cardiol, Vol. 17, 567 – 623.
Schwedler, G., Lindinger, A., Lange, P.E., Sax, U., Olchvary, J., Peters, B. (2011). Frequency and spectrum of congenital heart defects among live births in Germany: a study of the Competence Network for Congenital Heart Defects. Clin Res Cardiol, 100(12), 1111-7. doi: 10.1007/s00392-011-0355-7. Epub 2011 Sep 10
Smith, M. A., Lau, C. (2015). A resolution on folic acid fortification. Birth Defects Res. A Clin Mol Teratol, Vol. 103(1), 1-2.
Smith, M. A. (2015). Global, regional, and national incidence, prevalence, and years lived with disability for 310 diseases and injuries, 1990–2015: a systematic analysis for the Global Burden of Disease Study. The Lancet, Vol. 388, № 10053, 1447-1850.
Su, W., Zhu, P., Wang, R. (2017). Congenital heart diseases and their association with the variant distribution features on susceptibility genes. Clin Genet, № 91(3), 349 -354. doi: 10.1111/cge.1283.5
Till, S. R., Everetts, D., Haas, D. M. (2015). Incentives for increasing prenatal care use by women in order to improve maternal and neonatal outcomes. Cochrane Database Syst Rev, Vol.(12), 2228-2231.
Trivedi, N., Levy, D., Tarsa, M., Anton, T., Hartney, C., Wolfson, T. et al. (2012). Congenital cardiac anomalies: prenatal readings versus neonatal outcomes. Ultrasound Med, V. 31(3), 389-399.
Videbaek, J., Olsen, M., Laursen, H. B. (2009). The prevalence of congenital heart disease (GUCH) in the Danish population: a nationwide population survey. Eur Heart J, № 30 (Suppl 1), 802.
Warrington, N. M., Beaumont, R. N., Horikoshi, M. et al. (2019). Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. Nature Genetics. Vol 51, 804-814.
Yang, J., Qiu, H., Qu, P. et al. (2015). Prenatal alcohol exposure and congenital heart defects: a meta-analysis. PLoS One., № 10(6), 0130681. doi: 10.1371/journal.pone.0130681
Yanqiu, Ou., Jinzhuang, Mai., Jian, Zhuang. et al. (2016). Risk factors of different congenital heart defects in Guangdong, China. Pediatric Research, V. 79, 549–558.
Zhang, T., Lou, J., Zhong, R. et al. (2013). Genetic variants in the folate pathway and the risk of neural tube defects: a meta-analysis of the published literature. PLoS One, 8:e59570
The Journal of V. N. Karazin Kharkiv National University, series Medicine has following copyright terms:
- Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work’s authorship and initial publication in this journal.
- Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal’s published version of the work, with an acknowledgement of its initial publication in this journal.
- Authors are permitted and encouraged to post their work online prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.
