Journal of Clinical and Diagnostic Research, ISSN - 0973 - 709X

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Case Series
Year : 2017 | Month : March | Volume : 11 | Issue : 3 | Page : GR01 - GR04

Gerbode Ventricular Septal Defect –A Rare Cardiac Anomaly Associated with Genetic Variants in Indian Population- A Case Series

Yashvanthi Borkar, Krishnananda Nayak, Ranjan K. Shetty, Gopalakrishna Bhat, Rajasekhar Moka

1. PhD Scholar, Department of Cellular and Molecular Biology, School of Life Sciences, Manipal University, Manipal, Karnataka, India. 2. Assistant Professor and Head, Department of Cardiovascular Therapy, School of Allied Health Sciences, Manipal University, Manipal, Karnataka, India. 3. Professor and Head, Department of Cardiology, Kasturba Medical College, Manipal, Karnataka, India. 4. Professor, Department of Biotechnology, School of Life Sciences, Manipal University, Manipal, Karnataka, India. 5. Associate Professor, Department of Cellular and Molecular Biology, School of Life Sciences, Manipal University, Manipal, Karnataka, India.

Correspondence Address :
Dr. Rajasekhar Moka,
Associate Professor, Department of Cellular and Molecular Biology, School of Life Sciences, Manipal University,
Manipal-576104, Karnataka, India.
E-mail: rsmoka@gmail.com

Abstract

Gerbode defects are rare Ventricular Septal Defects (VSD) constituting approximately one percent cases of congenital heart diseases. The genetic predispositions towards the Gerbode Defect (GD) have remained an unexplored area of study till date. We investigated the genotype-phenotype correlation in patients with Gerbode VSD. Molecular genetic study on Sanger sequencing and subsequent data analysis showed that the contributing sequence variations in the NKX2-5, GATA4 and TBX5 gene lies in one of the highly conserved regions and this region is responsible for encoding a functional protein. The resulting genotype variation may be responsible for causing the diseased phenotype known as GD.

Keywords

Echocardiography, Single nucleotide polymorphism, Transcriptional gene(s).

How to cite this article :

Yashvanthi Borkar, Krishnananda Nayak, Ranjan K. Shetty, Gopalakrishna Bhat, Rajasekhar Moka. GERBODE VENTRICULAR SEPTAL DEFECT –A RARE CARDIAC ANOMALY ASSOCIATED WITH GENETIC VARIANTS IN INDIAN POPULATION- A CASE SERIES. Journal of Clinical and Diagnostic Research [serial online] 2017 March [cited: 2017 Apr 28 ]; 11:GR01-GR04. Available from
http://jcdr.net/back_issues.asp?issn=0973-709x&year=2017&month=March&volume=11&issue=3&page=GR01-GR04&id=9549

DOI and Others

DOI: 10.7860/JCDR/2017/23820.9549


Date of Submission: Aug 30, 2016
Date of Peer Review: Oct 17, 2016
Date of Acceptance: Nov 17, 2016
Date of Publishing: Mar 01, 2017


Financial OR OTHER COMPETING INTERESTS: None.

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