Congenital heart conditions
- 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
are one of
the most common birth
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.
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
‘Three gene mutations associated with congenital heart disease and the risk of long-term effects have been studied.’
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
There are two types of
congenital heart disease
Highlights of the Study
- 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
- 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.
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
- These mutations interfered with
the normal growth and development of the heart.
- In non-syndromic heart disease
- Non-syndromic congenital heart
disease patients did not have spontaneous mutations.
- They inherited gene mutations from
- Genome-wide scanning for gene
mutations revealed three new gene mutations associated with congenital
- 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
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
- Congenital Heart Disease - Fact Sheet - (http://www.childrensheartfoundation.org/about-chf/fact-sheets)
- Congenital Heart Disease - Statistics - (http://www.cdc.gov/ncbddd/heartdefects/data.html)
- What are Congenital Heart Defects - (https://www.nhlbi.nih.gov/health/health-topics/topics/chd)