Congenital heart disease may have genetic roots

London: Researchers have found that patients with congenital heart defects often inherit the disease from their healthy parents.

Congenital heart is one of the most common developmental defects, occurring in 1 per cent of the population world-wide and affecting 1.35 million new-borns every year with problems like holes in the heart as well as causing life-long disability to many. Previous studies have found that the rare heart disease might be caused by spontaneous new mutations which are present in the child and absent in the parents. The findings confirmed that patients with the rarer syndromic congenital heart disease -- with additional developmental problems like abnormalities in other organs or an intellectual disability -- often had spontaneous new mutations likely to interfere with normal heart development that were not seen in the parents.

However, it also showed that non-syndromic congenital heart disease patients -- around 90 per cent with only isolated defects in heart -- did not have such spontaneous mutations.

The study for the first time conclusively showed that they often inherited damaging gene variants from their seemingly healthy parents, the researchers said.

For the study, published in the journal Nature Genetics, the team sequenced and analysed the protein-coding segments of the genome - known as the exome - of 1,900 congenital heart disease patients and their parents.

They found three new genes in which mutations can cause rare syndromic congenital heart disorder.

--IANS