Highlights
- 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
- 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)
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.
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.
- 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)
Source-Medindia