Study to assess incidence and type of congenital heart defect in children with down syndrome presenting to tertiary care teaching hospital of Southern Rajasthan
DOI:
https://doi.org/10.18203/2349-3291.ijcp20231851Keywords:
Congenital heart disease, Down syndrome, ChromosomesAbstract
Background: Down syndrome occurs in people of all races and economic levels. Cardiac anomalies with a prevalence of about 50% are the most common anomaly responsible for death during the 1st two years of life in children with down syndrome. Objective of the study was to Assess the incidence and type of congenital heart disease in children with down syndrome presenting to a tertiary care hospital.
Methods: Hospital based descriptive study. Participants: All children (0 to 18 years) diagnosed (clinically or on karyotyping) with Down syndrome, presenting in RNT Medical College, Udaipur Each patient was evaluated with a pre-set Performa which contained detailed sociodemographic profile, maternal and clinical history including age of conception, detailed physical examination to look for features of down syndrome. Degree of Intellectual / Developmental retardation was assessed by Vineland Social Maturity Scale. 2D- echo, karyotyping was done in all patient. CBC, thyroid profile, CXR, USG- abdomen, Invertogram were done as per need.
Results: Out of 57 Down syndrome children, 32(56.1%) were males and 25(43.9%) were females. Congenital heart defect was found in 35 out of 57 Down syndrome children (61.4%). Among 35 cases 82.2% had Acyanotic CHD and 17.1% had Cyanotic CHD. Ventricular Septal defect (31.4%) was the most common Congenital heart defect followed by Atrial Septal defect in 20% cases. Trisomy 21 was observed among 94.7% cases.
Conclusions: More than half of children with Down syndrome have congenital heart disease, mostly Acyanotic, more specifically VSD. Early screening and diagnosis re the key to avoid irreversible hemodynamic consequences.
References
Carlos A, Bacino and Brendan L. Cytogenetics, In Nelson Text Book of Pediatrics, 21st Edition, Elsevier. 2020;652-653.
Pankaj G, Avani K, Salil V. Prevalence of Down syndrome in Western India: a cytogenetic study. BJMMR Journal. 2015;5(10):1255-9.
Jalili Z, Jalili C. Congenital heart disease in children with down syndrome in Kermanshah, West of Iran during 2002-2016. Int J Pediatr. 2017;5(11):6095-102.
Kava MP, Tullu MS, Muranjan MU. Down syndrome:: Clinical profile from India. Archives Med Research. 2004;35(1):31-5.
María I, de Michelena MI, Burstein E, Lama JR, Vasquez JC, Paternal age as a risk factor for Down syndrome, Am J Med Genet. 1993;45(6):679-82.
P. Venugopalan, A. K. Agarwal, Spectrum of Congenital Heart Defects Associated with Down syndrome in High Consanguineous Omani Population, Indian Pediatrics. 2003;40:398-403.
Muthumani P. Clinical Profile of Down Syndrome in a Tertiary Care Centre (Doctoral dissertation, Madras Medical College, Chennai). Available at http://repository-tnmgrmu.ac.in/id/eprint/13541. Accessed on 10 January 2023.
Lippman A, Aymé S. Fetal death rates in mothers of children with trisomy 21 (Down syndrome). Annals of human genetics. 1984;48(4):303-12.
Somasundaram A, Ramkumar P. Study on congenital cardiac defects of Down syndrome children. J Pediat Infants. 2018;1:7-10.
Kumar GV, Srinivasa V, Kumar ATS. Pattern of congenital heart diseases among children with Down syndrome attending a tertiary care medical college hospital. Int J Contemp Pediatr. 2017;4(4):1357-9.
Shrestha M, Shakya U. Down syndrome and congenital heart disease: single center, prospective study. NJMS. 2013;2(2):96-101.
Asim A, Agarwal S, Panigrahi I. Frequency of congenital heart defects in Indian children with down syndrome. Austin J Genet Genomic Res. 2016;3(1):1-3.
Benhaourech S, Drighil A. Congenital heart disease and Down syndrome: various aspects of a confirmed association. CVJ Africa. 2016;27(5):287.
