Every year, 100,000 babies don't make it to their first birthday because of CHD.

congenital heart disease

Scientific studies of the past found that congenital heart disease (CHD) could be caused by random mutations during gestation. However, new research suggests that CHD might have genetic ties.  Save the Heartbeat, a non-profit organization that sells diamond heartbeat necklaces to raise funds for CHD patients, brings you the story:

CHD is the most common birth defect; it affects 1% of the worldwide population. That means upwards of 1.3 million newborns are born with this potentially deadly disease. Although this disease affects many, there are still very little answers to what causes it. A majority of those born with congenital heart defects come from parents with perfectly healthy hearts. Due to this fact, it was often thought that CHD is caused by spontaneous mutations during the fetus’ gestation.

However, a new study has shown that patients with very rare heart defects and diseases (syndromic) often had spontaneous mutations in other organs as well. While the 90% of CHD patients showing more common heart defects (non-syndronmic) did not have spontaneous mutations in other parts of the body.

With this information, researchers were able to conclude that CHD patients with syndromic heart defects likely inherited gene variants from their parents, although the gene lay dormant in them.


Mathew Hurles, the lead author of the study conducted by Wellcome Trust Sanger Institute, 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 percent of congenital heart disease patients worldwide.”

Further detailed studies on non-syndronmic CHD will be much more effective, now that researchers know that some causative factors of CHD are passed on from healthy parents. Hopefully this will finally lead us down the path of understanding more about what causes this disease.

September 02, 2016 by Lani O'Gorman