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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
Vol. 11, No. 1, 2005, pp. 14-23
Bioline Code: hg05001
Full paper language: English
Document type: Research Article
Document available free of charge

Indian Journal of Human Genetics, Vol. 11, No. 1, 2005, pp. 14-23

 en An understanding the genetic basis of congenital heart disease
Ramegowda Smitha, Ramachandra Nallur B.


The recent exponential increase in the knowledge of genetics has revolutionized the understanding of congenital heart diseases (CHDs) during the past few decades. Prior studies have reported the influence of Mendelian disorders on CHDs to be very small, when compared to the polygenic inheritance, which constituted a higher percentage. The recent findings of candidate genes responsible for CHDs have provided new insights into the genetic basis of heart malformation. Here we reviewed the understandings of different types of heart lesions associated with syndromes for which genetic etiologies are apparent, as well as the recent developments involving the molecular pathways involved in CHDs in case of human beings. The similar mutations, which are the devastating events of molecular mechanism, may be the cause of different types of CHDs indicating single gene defects as the cause of different apparent phenotypes. An integrated simple model will explain the causes of presently well known CHDs. This review provides updated information on the genetic basis for cardiac defects which helps to understand, identify, prevent and treat individuals who might be at risk at an early stage. There is a need to find heart defects as early as possible so that they can be treated while the heart is still forming.

Congenital heart disease, Syndrome, Chromosome, GATA 4, NKX- 2.5, Transcription factors

© Copyright 2005 Indian Journal of Human Genetics.
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