Health In Focus
  • Gene mutations identified are found to be associated with three new congenital mutations.
  • Genetic differences associated with two different forms of disease
  • Spontaneous gene mutations associated with a rare form of congenital heart disease

Congenital heart conditions are one of the most common birth defects among newborns. The defects can range from defects in the interior wall of the heart, in the arteries and the veins that supply blood to the heart and to the rest of the body and in the valves in the heart.
  • 1 in 100 live births in the U.S is associated with a congenital heart condition.
  • It is one of the most common cause of infant death.
  • A quarter of children born with congenital heart disease require interventional strategies to survive.
  • There is a life-long risk of heart disease for children born with congenital heart disease (CHD)
A new study published in the journal Nature Genetics looks at differences in the genetic makeup of people with two forms of congenital heart disease, with one form of the disease inherited from healthy parents.
Gene Mutations Associated With Three New Congenital Heart Conditions
Gene Mutations Associated With Three New Congenital Heart Conditions

"Understanding the underlying genetic pathways of congenital heart disease and the genes involved means that we will be able to provide more accurate information for patients. Knowing a genetic cause for a person's medical condition means that we can sometimes suggest additional medical checks to keep them healthy. We can also discuss the chances of them having a child with CHD if they wish, and what options are available to them. It may also be important for the wider family, as sometimes others may be at risk of having heart problems too. For some, just having an explanation as to why they or their child has developed CHD can be very helpful." Said Dr. Anna Wilsdon, one of the researchers involved in the study, adding "Through this study we have been able to identify a genetic change in a number of individuals that is likely to have caused their heart condition. We are currently feeding these results back to them. Studies like this will hopefully mean that we can find a genetic cause of CHD in more patients in the future."

Study Population:

The study population were patients and parents who visited Glenfield Hospital in Leicester and who agreed to be a part of the study. A total of 20,000 genes were studied.

Types of Congenital Heart Disease:

There are two types of congenital heart disease
  • Syndromic congenital heart disease - This is seen in 10% of patients and is associated with heart disease that may be present along with complications in other organs or even learning disabilities.
  • Non-syndromic congenital heart disease - This is seen in 90% of patients and is associated with isolated heart conditions that do not leave any long term effect on the child.
Highlights of the Study:

The study found that
  • In syndromic congenital heart disease patients -
    • Spontaneous gene mutations were found among patients with syndromic congenital heart disease.
    • The gene mutations that were found in spontaneous congenital heart disease patients were not present in the parents.
    • These mutations interfered with the normal growth and development of the heart.
  • In non-syndromic heart disease patients
    • Non-syndromic congenital heart disease patients did not have spontaneous mutations.
    • They inherited gene mutations from healthy parents
  • Genome-wide scanning for gene mutations revealed three new gene mutations associated with congenital heart disease.
  • Based on the study, parents of children with congenital heart disease will now be provided with better clarity regarding the status of their child's health and long-term complication.
The study provides an insight into the gene mutations that are responsible for congenital heart disease. Further studies are required to study the exact combinations of gene mutations and environmental factors that contribute to the emergence of the disease condition.

References :
  1. Congenital Heart Disease - Fact Sheet - (
  2. Congenital Heart Disease - Statistics - (
  3. What are Congenital Heart Defects - (

Source: Medindia

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