Did you know that 1 to 2% of people are born with a common heart defect called a bicuspid aortic valve?
Usually, the heart has three leaflets (like tiny doors) in the aortic valve, which lets blood flow out of the heart. But some people only have two leaflets, and they’re not even the same size!
This can lead to problems like a blocked valve (aortic stenosis), infections (endocarditis), and early valve hardening (calcification). Until now, the only way to fix this was to have surgery to replace the valve.
A Big Discovery
That might all change because of a new study led by Dr. José Luis de la Pompa and his international team, which includes experts from around the globe.
They published their results in a medical journal called JAMA Cardiology. They found out that the bicuspid aortic valve is caused by changes (mutations) in a gene called MINDBOMB1 (MIB1).
This is a big deal because if we know what causes the problem, we might be able to find ways to fix it without surgery.
Hope for the Future
Dr. de la Pompa is excited about this discovery. He hopes it can lead to new medicines to treat the bicuspid aortic valve.
This is good news, as it’s the most common heart defect people are born with. A new treatment could help patients and also save a lot of money in health care costs.
A Big Team for a Big Task
This wasn’t a small study. The team was made up of experts from different countries, including Israel, France, Belgium, The Netherlands, the USA, and Sweden.
They used different techniques like genome sequencing, which reads the entire DNA code, and other analyses. They looked at mutations in patients from different places to make sure their results were solid.
How the Study Worked
Dr. Rebeca Piñeiro-Sabarís, from Dr. de la Pompa’s team, used a tool called CRISPR-Cas9 to change the MIB1 gene in mice.
She found that both copies of the MIB1 gene had to be changed for the mice to develop the heart defect.
However, humans can develop the defect with just one changed MIB1 gene. The mice with the changed genes also had other heart problems.
Looking Forward
This new understanding of the link between the MIB1 gene and the bicuspid aortic valve is a big step forward. It highlights the importance of a process called NOTCH signaling in this heart defect.
It also suggests that parts of the NOTCH pathway could be targeted to develop new ways to diagnose and treat the problem.
The Spanish Ministry of Science and Innovation (MICIN) funded the study. So, while we wait for new treatments, we can be thankful for the scientists working to make life better for those with heart defects.
If you care about heart health, please read studies about an easy way to prevent heart disease, reduce cholesterol and this diabetes drug may harm your heart health.
For more information about heart disease, please see recent studies about effective ways to quickly restore normal heart rhythm, and results showing that statin drugs can do double duty on heart disease and cancer.
The study was published in JAMA Cardiology.
Follow us on Twitter for more articles about this topic.
Copyright © 2023 Knowridge Science Report. All rights reserved.
