Children with non-syndromic congenital heart disease often inherit genetic mutations from their "apparently healthy" parents, according to the findings of a major study reported last night.
Researchers said they had found genetic mutations linked to three rare congenital heart disorders.
The British-led study also confirmed that a minority of child heart disease patients are victims of spontaneous mutations, leading to syndromic disease in which heart defects are linked to other problems.
Non-syndromic patients, with isolated defects of the heart, represent about 90% of these children.
The latest findings, reported in Nature Genetics, come from a study of some 1,900 patients and their parents.
This led to the examination of some 20,000 genes.
Researcher Dr Matthew Hurles, from the Wellcome Trust Sanger Institute, Cambridge, UK, said: "This is the first study to quantify the role that rare inherited variants play in non-syndromic congenital heart disease, and is extremely valuable as these patients make up 90% of congenital heart disease patients worldwide.
"We are trying to find the subset of genes with the highest risk of causing non-syndromic congenital heart disease."
Fellow researcher Marc-Phillip Hitz, of the University Medical Centre of Schleswig-Holstein, Germany, said: “Previous smaller scale studies have hinted at the possibility that non-syndromic congenital heart disease could be caused by inherited gene variants, but this is the first time that we have been able to show it with statistical evidence.
"This was only possible due to the global collaboration of centres in the UK, Germany, Belgium, Canada, the United States of America and Saudi Arabia integrating data from many clinicians on a large number of families.
"We now know that some of the causative factors of the disease are inherited from their healthy parents, which will be extremely helpful for designing future studies of non-syndromic congenital heart disease, helping to understand what causes the disease.”
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Nature Genetics 1 August 2016; doi: 10.1038/ng.3627
Leave a Reply