Scientists and collaborators at the Icahn School of Medicine at Mount Sinai recently identified novel genetic interactions that may contribute to congenital heart disease.
Congenital heart disease (CHD) is a problem with the heart’s structure at birth.
Let’s go beyond the surface and learn more about what the research means and how it can help others!
The Health Impact of Congenital Heart Disease (CHD)
When a disease or condition is congenital, it means someone is born with this condition.
Congenital heart diseases or defects occur when “when the heart, or blood vessels near the heart, don’t develop normally before birth. Such defects result when a mishap occurs during heart development soon after conception — often before the mother is aware that she is pregnant,” according to the American Heart Association.
Common types of congenital heart defects include ventricular septal defect (VSD), atrial septal defect (ASD), aortic valve stenosis (AVS), and complete atrioventricular canal defect (CAVC), among others.
While some types of congenital heart disease may be mild, others may cause life-threatening complications such as:
- Pulmonary hypertension
- Arrhythmias
- Infective endocarditis
- Congestive heart failure
- Kidney and liver disease
“Congenital heart defects range in severity from simple problems, such as ‘holes’ between chambers of the heart, to very severe malformations, such as the complete absence of one or more chambers or valves,” according to the American Heart Association.
Making Strides in Research
With more than half of CHD cases still lacking a molecular diagnosis, researchers at Mount Sinai recently identified a breakthrough.
“Our research reveals the potential for digenic inheritance—where two genes work together to cause disease—expanding our understanding of the genetic underpinnings of congenital heart disease, said Dr. Yuval Itan, co-corresponding senior author of the publication.
Through analyzing trio exome sequencing data from affected and unaffected children in the Pediatric Genomic Consortium, the research team identified 10 novel gene pairs potentially linked to the development of CHD.
“By identifying these gene pairs and their combined effects, we uncover previously hidden genetic risks, which could improve diagnostic precision and open new avenues for personalized treatment strategies,” Itan said.
The research team used a “robust computational method” to identify gene pairs that may act together to cause CHD.
This approach could transform how genetic studies are conducted for complex diseases and give deeper insights into the role of genetics in disease development, according to the investigators.
“By developing a method to uncover these interactions, we are broadening the scope of genetic research, which could lead to improved diagnosis, enhanced risk assessment, and more informed genetic counseling,” said Dr. Meltem Ece Kars, first author and postdoctoral fellow in Charles Bronfman Institute for Personalized Medicine.
Additionally, as clinical genetic testing advances, integrating digenic models could significantly improve diagnostic yield, which would offer patients and their families clarity about their condition and guiding the development of targeted therapies and interventions.
When it comes to next steps, the researchers plan to apply the digenic approach to other disease groups that have traditionally been studied using the monogenic model.
Ultimately, they aim to extend the digenic approach into a robust polygenic framework capable of identifying multiple disease-causing variants and genes in patients.
“Our findings hold promise for improving genetic diagnoses, offering better risk assessments, and ultimately guiding more personalized treatments for individuals with congenital heart disease,” Kars said.
Find the full study here.
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