Welcome to the Heart Centre Biobank

A provincial and international research network aimed at improving outcomes in heart disease through enhanced prevention and treatment.
Happier Children, Healthier Hearts.

Children can have different types of heart diseases, such as cardiomyopathies, which can be childhood onset or congenital. Congenital heart defects occur in one out of every 100 newborns, but the causes of most forms of congenital heart defects are not known. Today, advances in technology permit us to sequence the entire genome of an individual. This has opened up new opportunities to do large-scale studies to find out which genes cause heart disease in children and adults.

This multi-centre research network has resulted in the establishment of the first Ontario province-wide biorepository and registry of patients with congenital and other forms of heart disease.

Today, this is now one of the biggest childhood heart disease biobank registries in the world, with over 9000 participants!

The network provides a resource to investigators to study the genetic and environmental causes of heart defects and other diseases through the study of DNA, tissue, skin, and blood samples from affected individuals.

The ultimate goal is to develop better ways to diagnose, prevent, and treat disease in children and adults and to improve their overall health and well-being. This exciting initiative, the first of its kind in Ontario, is an example of leveraging our expertise to promote international collaboration and innovation in human disease research.

Seema Mital, MD

Principal Investigator, Heart Centre Biobank Registry

Heart Centre Biobank Video

If you are interested in participating, check out this short video that will tell you all about our study! Feel free to contact us using the form here if you have any questions or would like to find out more.

Our Biobank Family

  • ENROLLMENT

    Our enrollment is trending up as we continue to recruit new and retain existing participants. Our patient population grows on average by 8% each year. We currently have over 9,900 participants.

  • DATA

    Data use is trending up as we have supported 50 new research studies within the past 3 years with the specimens and data that you have donated to the biobank.

  • FAMILY PARTICIPATION

    Family participation is trending up, with 370% increase within this past year. We recognize the importance of studying not just the child with disease but parents to help us determine if the finding is new or passed down. If you are a parent who has not yet participated and would like to, please contact us! Participation can aso be coordinated by mail.

Graph depicting increase in number of participants from 2007-2020, with the total number of participants being 9939.

Recent Highlights

 

Whole genome sequencing delineates regulatory and novel genic variants in childhood cardiomyopathy

Cardiomyopathy, a genetic disease of the heart muscle, is the leading cause of heart failure and sudden cardiac death in children. It is inherited in families in at least a third of cases. Despite availability of genetic testing, the genetic cause of the majority of cardiomyopathies remains unknown since current tests only look for defects in a small number of known genes in the genome. In a first of its kind study posted on the MedRxiv preprint server, we used whole genome sequencing in cardiomyopathy families in our biobank and uncovered novel genes and non-coding variants in 20% of the cases that were previously deemed gene-elusive. These findings demonstrate the power of genome sequencing in unraveling the genetic basis of cardiomyopathy (and possibly other diseases), bringing clinicians and families one step closer to a future of personalized medicine.

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Genetic Diagnosis and the Severity of Cardiovascular Phenotype in Patients with Elastin Arteriopathy

Elastin gene defects occur in Williams-Beuren syndrome (WBS) and non-syndromic supravalvar aortic stenosis (SVAS). These defects cause reduction of elastin in blood vessel walls making them stiff and narrow and affecting blood flow to major organs like the heart, brain and kidney. Treatment involves one or more surgery or catheter-based interventions to relieve these vascular stenoses. Our study found that infants and children with non-syndromic SVAS usually have earlier more severe disease and require more operations to relieve recurrent stenoses. Our findings highlight the importance of knowing the genetic basis of this disease which may help clinicians to not only choose the right interventions but also to counsel families regarding what to expect and how to plan for the future.

Picture of a strand of DNA
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A Validated Model for Sudden Cardiac Death Risk Prediction in Pediatric Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy is a genetic disease that causes thickening and stiffening of heart muscle and abnormal heart rhythm. It is the most common cause of sudden cardiac death in adolescents and young adults. Sudden death can be prevented through timely use of a life-saving device in the form of an implantable cardioverter-defibrillator (ICD). However, many ICDs are implanted in children at low risk who do not need them which exposes them to unnecessary complications from the device.

Through an international collaboration, we developed a risk prediction model that includes factors that are unique to a pediatric population to identify children at high risk for sudden death. By providing an individual risk score for their patient, it will help physicians to engage patients in shared decision making for ICD insertion. Successful use of this tool may increase appropriate use of ICD in those at high risk for sudden death, thereby increasing lives saved.

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Funding Sources

ted rogers centre for heart research
labatt family heart centre development funds

Contact Us

For any questions, or to find out more, please get in touch with us at anytime.