A genetic mutation can raise the risk of congenital heart disease strongly which is the major most common birth defect has identified by a team of geneticists and cardiologists. Congenital heart disease (CHD) is rarely found and is compared to disease like cancer, explained a lead researcher Dr. Peter J. Gruber, a pediatric cardiothoracic surgeon and developmental biologist at The Children’s Hospital of Philadelphia.
Congenital heart disease hits at least one in every hundred births and in some cases minute holes which shut naturally are formed between heart chambers. In some cases the condition is life threatening and required immediate surgery. The gene ISL1 plays an important role in regulating early cardiac development. So there is convincing natal reason for examining it as hereditary factor for CHD, explained Dr. Peter J. Gruber.
They have formed the theory that a common gene variation operates early in the alleyway of hear formation instead of assuming separate genes would administer each precise fault, he said further. No research before it had shown that ISE1 gene, a hereditary variation is involved in heart cell development.
He and his team had begun to collect DNA samples from one thousand three hundred and forty-four children with congenital heart disease. Their succeeding investigation confirmed that variation in ISL1 gene have a strong connection with congenital heart disease.
These findings may ultimately lead to enhanced surgical interventions down the road explained Gruber.