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Mount Sinai Researchers Identify Gene Mutations in Congenital Heart Disease
Date:5/12/2013

an be lethal, complex to treat, and can lead to serious intellectual and developmental disabilities. Other forms of CHD require no treatment or can easily be fixed. Congenital heart disease is rarely inherited.

Mutations in genes that control chromatin remodeling have already been implicated in cancers. Some drugs that target chromatin remodeling have already been approved and many more are in the pipeline, according to Dr. Gelb.

With only 30 genes identified out of more than 400 genes believed to be important in congenital heart disease, Dr. Gelb says that researchers will next examine many more parents and their affected children.

As the genetic architecture underlying congenital heart disease becomes better understood, genetic testing will become more widely used. What is clear, thus far, is “that parents participating in these studies take comfort in learning that a congenital heart defect or another problem results from a cause that no one had any control over,” said Dr. Gelb. “That is, it wasn’t their fault or the fault of the medical care that they received.”

For the study, researchers used exome sequencing of 362 parent-child trios: parents with no identifiable heart disease and a child with severe congenital heart disease. The major types of severe congenital heart disease among the children included conotruncal defects (abnormal heart outflow formation), left ventricular obstruction (impaired blood flow from the heart’s main pumping chamber), and heterotaxy (abnormal formation of the left-right sides of the body). The children also had other impairments related to the heart problems, especially neurodevelopmental delays and poor growth.

Read the full story at http://www.prweb.com/releases/2013/5/prweb10724946.htm.


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