The Study Of Karyotypes In Patients With Congenital Heart Diseases Of Gujarat State

The Study Of Karyotypes In Patients With Congenital Heart Diseases

Authors

  • Dr.Umesh P Modasia
  • Dr.Bhavin B Kodiyatar
  • Dr.Sunil Oza

DOI:

https://doi.org/10.70284/njirm.v3i3.2032

Keywords:

Congenital heart disease, Karyotype

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.

References

1.O Baspinar, S Karaaslan, B Oran, T Baysal. Congenital heart disease, A view. The Turkish Journal of Paediatrics .2006:648(3):237-243.
2. Shi YR, Hsieh KS, Wu Jy, Lee CC, Tsai CH, Tsai FJ. Molecular analysis of syndromic congenital heart diseases using short tandem repeat markers & semi quantitative polymerase chain reaction method. Pediatric International. 2002; 44:264-268.
3. WF.Friedman, JS. Child. Harrison’s principles of internal medicine. 15th Ed. McGraw-Hill ; 2007. 4. Braunwald E. Cardiovascular Medicine at the turn of the millennium: triumphs, concerns, and opportunities.The New England Journal of Medicine. 1997 Julu; 337 (19): 1360-1369.
5. Goldmuntz E. The epidemiology and genetics of congenital heart disease. Clinics in Perinatology. March 2001; 28(1): 1-10.
6. Roony DE, Czepulkowski B. Human Cytogenetic – A Practical Approach. 2nd edition. IRL Press Oxford:2006.
7. M. Ashok, G. Thangavel, S. Indrani, S. Suresh. Mediscan Prenatal Diagnosis and Fetal Therapy. Indian Pediatric. 2003;40:659-664.
8. Kava MP, Tullu MS, MuranjanMN; Girisha KM. Paediatrics Genetics. Archieves of medical research. 2004 ;35(I):31 – 35.
9. S Caputo, G Capozzi, L Martina. Paediatric Cardiology. European Heart Journal. 2005; 26:2179-84
10. T Une, Y Yokoyama, S Ninomiya. Acta Medica Okayama 2006; 5: 279-287.
11. N Itiro, MS Meyer, CFMeyer. Arq Bras. Cardiol (ABC). 2003; 80:274-8
12 I Emerit, JD Grouchy, P Vernant, P Corone. Congenital genetics. Americal Heart Associatioan. 1967; 36:886-905.
13. A. Khalil, R. Aggarwal, S.Thirupuram, R. Arora .Study of congenital heart disease.Indian Paediatrics. May 1994; 31:519-527.
14. Ozlem Giray, Ayfer Ulgenalp, Elcin Bora, Gul Sagin Saylam. Congenital cardiac defects. The Turkish Journal of Paediatrics. July2003; 45:217-220.
15. H. Gawde, ZM Patel, MI Khatkhatey, A D’Souza, S. Babu. Chromosome 22 microdeletion by F.I.S.H in isolated congenital heart disease. Indian Journal of Paediatrics. Oct 2006:73: 885-888.

Downloads

Published

2012-08-31

How to Cite

Modasia, D. P., Kodiyatar, D. B., & Oza, D. (2012). The Study Of Karyotypes In Patients With Congenital Heart Diseases Of Gujarat State: The Study Of Karyotypes In Patients With Congenital Heart Diseases. National Journal of Integrated Research in Medicine, 3(3), 33–35. https://doi.org/10.70284/njirm.v3i3.2032

Issue

Section

Original Articles