Publication:

Prevalence of extracardiac malformations associated with congenital heart disease

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.