Congenital Heart Disease: Causes and Risk Factors: Congenital Heart Disease: Causes and Risk Factors

Maria Fareed  Siddiqui; Sehar  Farooq; Amna Komal  Khan; Humera  Kausar

doi:10.52229/pbmj.v4i1.58

Authors

Maria Fareed Siddiqui Department of Pharmacy, Faculty of Pharmacy, The University of Lahore, Punjab, Pakistan
Sehar Farooq Institute of Molecular Biology and Biotechnology, The University of Lahore, Punjab, Pakistan
Amna Komal Khan Department of Biotechnology, Kinnaird College for Women University, Lahore, Pakistan
Humera Kausar Department of Biotechnology, Kinnaird College for Women University, Lahore, Pakistan

DOI:

https://doi.org/10.52229/pbmj.v4i1.58

Abstract

Congenital Heart Defect (CHD) is a multifactorial disorder based on both genetic and environmental factors involved in development. The basic problem lies in the structure of heart leading to CHD that occurs in walls, valves, arteries and veins of heart. During cell cycle, the gene that controls this process may mutate, causing disturbance in any portion of heart leading to disturbed blood flow, blood flow in wrong direction or complete blockage. Defect may range from simple with no manifestations to complex with severe symptoms. Simple defects need no treatment while some babies with complex birth defects during birth require special care, vaccination, medication or otherwise treated with surgery. The incidence of CHD has declined from 80 to 20% due to progress in heart surgery techniques, medical treatment and interventional cardiology. Various genetic and non-genetic increase the susceptibility for CHD. The diagnosis and treatment of CHD has greatly improved in recent years. Almost all the children with CHD survive to adulthood and spend healthy and active lives after being treated.

References

Ammar RI (2012). Balloon angioplasty for native aortic coarctation in children and infants younger than 12 months: immediate and medium-term follow-up. J. Invasive Cardiol. 24(12):662-666.

Al Turki S., Manickaraj A.K., Mercer C.L., Gerety S., Hitz M.P., Lindsay S (2014). Rare variants in NR2F2cause congenital heart defects in humans. Am. J. Hum. Genet. 94:574–585.

Ailes EC, Gilboa SM, Riehle-Colarusso T, et al., (2013). Prenatal diagnosis of nonsyndromic congenital heart defects. Prenat. Diagn. 34(3):214–222.

Bernstein D (2016). General principles of treatment of congenital heart disease. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; chap 434

Benziger C.P., Stout K., Zaragoza-Macias E., Bertozzi-Villa A, (2015). Projected growth of the adult congenital heart disease population in the United States to 2050: an integrative systems modeling approach. Popul. Health Metr. 13:29

Dawson AL, Cassell CH, Riehle-Colarusso T, (2013). Factors associated with late detection of critical congenital heart disease in newborns. Pediatrics. 132(3):e604–e611

Dawson AL, Cassell CH, Riehle-Colarusso T, et al., (2013). Factors associated with late detection of critical congenital heart disease in newborns. Pediatrics. 132(3):e604–e611

Germanakis I, Sifakis S, (2006). The impact of fetal echocardiography on the prevalence of liveborn congenital heart disease. Pediatr. Cardiol, 27:465–72

Holzer RJ, Gauvreau K, Kreutzer J. Safety and efficacy of balloon pulmonary valvuloplasty: a multicenter experience. Catheter Cardiovasc Interv. 2012; 80:663–72

Khoshnood B, Lelong N, Houyel L, et al. Prevalence, timing of diagnosis and mortality of newborns with congenital heart defects: a population-based study. Heart. 2012;98(22):1667–1673

Kucik JE, Cassell CH, Alverson CJ, Donohue P, Tanner JP, Minkovitz CS, Correia J, Burke T, Kirby RS. Role of health insurance on the survival of infants with congenital heart defects. Am J Public Health. 2014;104: e62–e70

Ko TJ, Tsai LY, Chu LC, et al. Parental smoking during pregnancy and its association with low birth weight, small for gestational age, and preterm birth offspring: a birth cohort study. Pediatr Neonatol2014;55:20–7

Liang FW, Lu TH, Wu MH. (2016). International ranking of infant mortality rates: Taiwan compared with European countries. Pediatr. Neonatol. 57:326–32

Laas E, Lelong N, Thieulin A-C, et al. (2012). Preterm birth and congenital heart defects: a population-based study. Pediatrics. 130(4):e829–e837

Lalani S.R., Belmont J.W. (2014). Genetic basis of congenital cardiovascular malformations. Eur. J. Med. Genet. 57:402–41

Lalani SR, Shaw C, Wang X, Patel A, Patterson LW, Kolodziejska K. Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities. Eur J Hum Genet. 2013;21:173–81

Liberman RF, Getz KD, Lin AE, et al., (2014). Delayed diagnosis of critical congenital heart defects: trends and associated factors. Pediatrics. 134(2):e373–e381.

Moosmann J., Uebe S., Dittrich S., Rüffer A., Ekici A.B., Toka O. (2015). Novel loci for non-syndromic coarctation of the aorta in sporadic and familial cases. PLoS One. 10:e0126873

Oster ME, Riehle-Colarusso T, Simeone RM, Gurvitz M, Kaltman JR, McConnell M, Rosenthal GL, Honein MA. (2013). Public health science agenda for congenital heart defects: report from Centers for Disease Control and Prevention experts meeting. J. Am. Heart Assoc. 2: e000256 doi: 10.1161/JAHA.113.000256

Oster ME, Kim CH, Kusano AS, et al., (2014). A population-based study of the association of prenatal diagnosis with survival rate for infants with congenital heart defects. Am. J. Cardiol. 113(6):1036–1040

Ou Y., Mai J., Zhuang J., Liu X., Wu Y., Gao X. (2016). Risk factors of different congenital heart defects in Guangdong, China. Pediatr. Res. 79:549–558.

Peterson C, Dawson A, Grosse SD, et al., (2013). Hospitalizations, costs, and mortality among infants with critical congenital heart disease: how important is timely detection? Birth Defects Res. A Clin. Mol. Teratol. 97(10):664–672

Schmaltz AA, Bauer U, Baumgartner H, et al., (2008). Medical guideline for the treatment of adults with congenital heart abnormalities of the German-Austrian-Swiss Cardiology Specialty Society. Clin. Res. Cardiol. 97:194–214

Syrmou A, Tzetis M, Fryssira H, Kosma K, Oikonomakis V, Giannikou K, et al., (2013). Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease. Pediatr. Res. 73:772–6

Stevens G., Bennett J., Hennocq Q., Lu Y., De-Regil L., Rogers L., Danaei G., Li G., White R., Flaxman S., et al., (2015). Trends and mortality effects of vitamin A deficiency in children in 138 low-income and middle-income countries between 1991 and 2013: A pooled analysis of population-based surveys. Lancet Glob. Health. 3:e528–e536

Truong DT, Tani LY, Minich LL, Burch PT, Bardsley TR, Menon SC (2014). Factors associated with recoarctation after surgical repair of coarctation of the aorta by way of thoracotomy in young infants. Pediatr. Cardiol. 35(1):164-170. doi:10.1007/s00246-013-0757-6.