The study of karyotypes in patients with congenital heart diseases of Gujarat State.

ABSTRACT

Introduction: Congenital heart disease (CHD) is the most common of all the birth defects and is a leading cause of mortality in the 1st year of life. Congenital heart disease can be related to chromosomal aberrations and mutation of single gene. Material and Method: In this study a total of 24 confirmed cases of CHD were considered of age ranging from Day 1 to 15 years. A prior Written consent was taken from the parents of these patients. The relevant clinical data, important investigations and blood samples where collected. A conventional cytogenetic study was performed on the 24 selected patients. Results: Out of 24 patients 1 patient showed a chromosomal abnormality in the form of trisomy 21. Conclusion: Hence the present study was carried out as a Continued research on the genetic cause of congenital heart diseases and to augment our understanding of the mechanisms underlying the normal and abnormal development of the cardiac structures.