Prevalence of extracardiac malformations associated with congenital heart disease


  • Sailen Kumar Bana Department of Pediatrics, Dr. B. C. Roy Postgraduate Institute of Pediatric Sciences, Kolkata, India
  • Asok Mandal Mandal Department of Pediatrics, Dr. B. C. Roy Postgraduate Institute of Pediatric Sciences, Kolkata, India
  • Niranjan Nagaraj Department of Pediatrics, PGIMER, Dr. RML Hospital, New Delhi, India
  • Sameer Saraswat Department of Pediatrics, PGIMER, Dr. RML Hospital, New Delhi, India
  • Ankush Shukla Department of Pediatrics, Dr. BLK Hospital, New Delhi, India



Congenital heart disease, Extra cardiac malformation, Kolkata, Syndrome


Background: Congenital heart disease is defined as a gross structural abnormality of the heart or intrathoracic great vessels that is actually or potentially of functional significance. This study aims to know the prevalence of occurrence of extra cardiac malformations in patients with CHD, based on clinical features and necessary investigations when required and to study whether these extracardiac malformations occur as a part of a known syndrome or they occur in isolation.

Methods: This study is a cross sectional hospital based observational study, carried out in the Department of Paediatrics, Dr. B. C. Roy Postgraduate Institute of Paediatric Sciences, Kolkata over two years from July 2014 to June 2016. A thorough general physical examination, vitals, anthropometry was undertaken. Systemic examination was done in all cases according to the study proforma. CHD was confirmed by X-ray chest, Electrocardiography, Echocardiography.

Results: Twenty-three percentages (23%) of the patients were found to have an associated major ECM. Down syndrome was the most commonly identified syndrome in the present study accounting for 50% of the patients of CHD with an associated syndrome. The most common CHD among patients with Down syndrome were multiple CHD and VSD.

Conclusions: Whenever more than 1 minor anomalies are found, a careful search for an underling major malformation such as CHD should be made. In all cases of congenital heart diseases with associated extracardiac malformations, effort should be made by the treating pediatrician to rule out an associated syndrome; so that parents can be counselled about prognosis, recurrence in the subsequent pregnancies.


Rao N. Congenital heart disease prevalence-the Indian scenario. In: Kumar KR, Prabhu S, Ahamed MZ, eds. IAP speciality series on Pediatric Cardiology 2nd edition. Gwalior: Jaypee Brothers medical publishers; 2013:155.

Smitha R, Karat SC, Narayanappa D, Krishnamurthy B, Prasanth SN, Ramachandra NB. Prevalence of congenital heart diseases in Mysore. Indian J Human Genetics. 2006;12(1):11.

Misra M, Mittal M, Verma AM, Rai R, Chandra G, Singh DP, et al. Prevalence and pattern of congenital heart disease in school children of eastern Uttar Pradesh. Indian Heart J. 2008;61(1):58-60.

Billett J, Majeed A, Gatzoulis M, Cowie M. Trends in hospital admissions, in-hospital case fatality and population mortality from congenital heart disease in England, 1994 to 2004. Heart. 2008;94(3):342-8.

Rao SV, Reddi YR. Genetic syndromes and extracardiac anomalies in heart disease. Indian Pediatr. 1975;12(3):217-20.

Jatav RK, Kumbhare MB, Srinivas M, Rao DR, Kumar PG, Reddy PR, et al. Prevalence and pattern of congenital heart diseases in Karimnagar, Andhra Pradesh, India: diagnosed clinically and by trans-thoracic-two-dimensional echocardiography. Int J Res Med Sci. 2014;2:186-92.

Kapoor R, Gupta S. Prevalence of congenital heart disease, Kanpur, India. Indian Pediatr. 2008;45(4):309.

Saxena A. Congenital heart disease in India: a status report. Indian J Pediatr. 2005;72(7):595-8.

Burn J, Brennan P, Little J, Holloway S, Coffey R, Somerville J, D et al., Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study. Lancet. 1998;351:311-6.

Chadha SL, Singh N, Shukla DK. Epidemiological study of congenital heart disease. Indian J Pediatr. 2001;68(6):507-10.

Bolisetty S, Daftary A, Ewald D, Knight B, Wheaton G. Congenital heart defects in Central Australia. Med J Australia. 2004;180:614-7.

Kramer HH, Majewski F, Trampisch HJ, Rammos S, Bourgeois M. Malformation patterns in children with congenital heart disease. Am J Dis Child. 1987;141(7):789-95.

Grech V, Gatt M. Syndromes and malformations associated with congenital heart disease in a population-based study. Int J Cardiol. 1999;68(2):151-6.

Tennstedt C, Chaoui R, Körner H, Dietel M. Spectrum of congenital heart defects and extracardiac malformations associated with chromosomal abnormalities: results of a seven-year necropsy study. Heart. 1999;82(1):34-9.

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






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