DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20172665

Pattern of congenital heart diseases among children with Down syndrome attending a tertiary care medical college hospital

Kumar G. V., Srinivasa V., Ananda kumar T. S.

Abstract


Background: Down syndrome (DS) is the most common chromosomal abnormality associated with learning difficulties with reported incidence between1/600 -1/1000 live births. DS (trisomy 21) is the most common chromosomal abnormality seen in clinical practice. Most children with DS have trisomy 21, due to chromosomal non-disjunction during meiosis; however, other abnormalities, such as Robertsonian translocation, mosaic, double or triple aneuploidies have been reported. The association between DS and congenital heart disease (CHD) is well established. Congenital heart disease is the most common cause of death among patients with DS and affected children have an increased risk of mortality.

Methods: The present descriptive study was conducted on children who had clinical features suggestive of Down syndrome and who were karyotypically proved as Down syndrome.

Results: In 100 cases of down syndrome 60 children were males and 40 children were females. 45 children had congenital heart diseases. The frequency of CHD in down syndrome is 45%. Ventricular septal defect was the most common CHD found 40% children with down syndrome.

Conclusions: All children with Down’s syndrome should have a cardiac evaluation at birth. Early referral and screening of all babies born with the clinical phenotype of DS should be encouraged due to the high prevalence of congenital heart defects. 


Keywords


Congenital heart disease, Down syndrome, Ventricular septal defect

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References


Smith G, Berg J. Down’s anomaly. 2nd ed. Edinburgh and New York: Churchill Livingstone; 1976.

Fatema NN. Down’s syndrome with congenital heart disease: Analysis of cases over two years in a non- invasive laboratory of a tertiary hospital. Cardiovasc. J. 2010;2(2):184-7.

Spicer RL. Cardiovascular disease in down syndrome. Pediatr Clin North Am. 1984;31:1331‑43.

Morris JK, Alberman E, Mutton D, Jacobs P. Cytogenetic and epidemiological findings in Down syndrome: England and Wales 1989-2009. Am J Med Genet Part A. 2012;158A:1151-7.

Freeman SB, Taft LF, Dooley KJ, Allran K, Sherman SL, Hassold TJ, et al. Population-based study of congenital heart defects in Down syndrome. Am J Med Genet. 1998;80:213-7.

Nahar R, Kotecha U, Puri RD, Pandey RM, Verma IC. Survival analysis of Down syndrome cohort in a tertiary health care center in India. Indian J Pediatr. 2013;80:118-23.

Shin M, Kucik JE, Correa A. Causes of death and case fatality rates among infants with down syndrome in metropolitan Atlanta. Birth Defects Res A Clin Mol Teratol. 2007;79:775-80.

Torfs CP, Christianson RE. Anomalies in Down syndrome individuals in a large population-based registry. Am J Med Genet. 1998;77:431-8.

Mikkelsen M, Poulsen H, Nielsen KG. Incidence, survival, and mortality in Down syndrome in Denmark. Am J Genet Suppl. 1990;7:75-8.

Rodríguez LH, Reyes JN. Cardiopatías congénitas en el syndrome de Down. Bol Med Hosp Infant Mex. 1984;41:622-5.

Stoll C, Alembik Y, Dott B, Roth MP. Study of Down syndrome in 238,942 consecutive births. Ann Genet. 1998;41:44-51.

Nussbaum R, Mclness RR, Willard HF. Thompson and Thompson Genetics in Medicine. 7th Ed., Elsevier Health Sciences, USA., ISBN: 9781437700930; 2007:600.

Wells GL, Barker SE, Finely SC, Colvin EV. Congenital heart disease in infants with down syndrome, South Med J. 1994;87(7):724-7.

Bhatia S, Verma IC, Shrivastava S. Congenital heart disease in Down syndrome: an echocardiographic study, Indian Pediatr. 1992;29(9):1113-6.

Paladini D, Tartagolione A, Agangi A, Teodoro A, Forleo F, Borghese A, et al. The association between congenital heart disease and Down syndrome in prenatal life. Ultrasound Obstet Gynecol. 2000;15(2):104-8.

Freeman SB, Taft LF, Dooley KJ, Allran K, Sherman SL, Hassold TJ, et al. Population based study of congenital heart defects in down syndrome, Am J Med Genet. 1998;16;80(3):213-7.

Frid C, Drott P, Lundell B, Rasmussen F, Anneren G. Mortality in down syndrome in relation to congenital malformation; J Intellect Disabil Res. 1999;43(pt-3):234-41.