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 10,200 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


    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 10,200 participants.

  • DATA

    We continue to support research at SickKids, across Canada and together with researchers from across the world. We have supported 70 research studies with the specimens and data that you have donated to the biobank.


    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. We now target the enrolment of parents for every individual we enrol. If you are a parent who has not yet participated and would like to, please contact us! Participation can also be coordinated by mail.


Personalized Genomics and the Future of Congenital Heart Disease: A Spotlight on Early Careers

On May 25th, 2023 Heart Centre Biobank Researchers along with other members of the ERA-PerMed funded PROCEED (PeRsOnalized Genomics for CongEnital HEart Disease) consortium hosted a scientific symposium at Amsterdam University Medical Centre. The symposium brought together researchers and collaborators from Canada, Germany, the Netherlands and Australia to discuss exciting new approaches to applying genomics and AI to the care of children with congenital heart disease. Trainees and early career investigators take center stage and shine a spotlight on their exciting and innovative discoveries on personalized medicine in congenital heart disease with a special focus on tetralogy of Fallot and transposition of the great arteries.

Recent Highlights

Implementing Precision Care: Introducing the PRIMaCY Sudden Cardiac Death Risk Calculator a groundbreaking integration into the EPIC electronic health record system!

This cutting-edge digital tool, endorsed by the American Heart Association/American College of Cardiology, provides a personalized 5-year risk prediction for life-threatening arrhythmias in children with hypertrophic cardiomyopathy.

In a Canadian first, the PRIMaCY tool has seamlessly merged into hospital information systems through a strategic partnership with MDCalc. This integration empowers clinicians with the ability to incorporate clinical, imaging, and genetic factors into the algorithm, bringing personalized medicine to the forefront of hypertrophic cardiomyopathy care. Now, physicians can make informed decisions about ICD insertion, enhancing patient outcomes.

Fueled by funding from the Ted Rogers Centre for Heart Research Translation and Commercialization Committee and CIHR (PIs, Seema Mital, Melanie Barwick, Samantha Anthony, Emily Seto), this EHR-compatible risk calculator is poised to launch across leading medical centers in Canada. Learn more about the game-changing PRIMaCY calculator here.

The Prevalence and Association of Exercise Test Abnormalities with Sudden Cardiac Death and Transplant-Free Survival in Childhood Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) can be associated with an abnormal exercise response. In an international cohort study the goal was to determine if an abnormal exercise response is associated with adverse outcomes in pediatric HCM patient by looking at phenotype-positive children with primary HCM from 20 centers. Using Kaplan-Meier survival, competing outcomes, and Cox regression analyses the association of an abnormal exercise test with transplant and SCD event-free survival were analyzed. Finding, an abnormal exercise test was independently associated with lower transplant-free survival especially in those with an ischemic or abnormal blood pressure response with exercise. Exercise-induced ischemia was also independently associated with SCD events. These findings argue for routine exercise testing in childhood HCM as part of ongoing risk assessment.

Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy

Cardiomyopathy (CMP) is the leading cause of heart failure and sudden cardiac death in childhood with an estimated 20 million people worldwide living with the disease with thousands of new cases are diagnosed annually in North America. Despite the inclusion of over 100 CMP disease genes in clinical testing panels, a majority of cases remain gene-elusive. Standard panels do not evaluate the non-coding genome that harbors DNA regulatory sequences including core and proximal promoters and enhancers, as well as distal regulatory elements.

This study used WGS to characterize all classes of genetic variation in a well-phenotyped discovery cohort of childhood-onset CMP. WGS identified copy number variants (CNVs), cryptic splicing variants, and high-risk regulatory variants associated with known CMP genes, and loss-of-function (LoF) variants in additional candidate genes that would not have been detected on clinical genetic testing.

Finding that high confidence variants identified using in silico prediction models have functional consequences validates bioinformatics approach to WGS-based variant discovery and makes a strong case for exploring cryptic splice variants, CNVs, variants in new candidate genes, and variants in recurrently altered regulatory elements of CMP genes in order to identify the missing genomic etiology of CMP.

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

Tetralogy of Fallot (TOF) and Transposition of the great arteries (TGA) are the leading causes of cyanotic congenital heart disease i.e. “blue” babies. Through an international collaboration in patients with TGA, it was identified that several common variants near the gene, WNT5A, may explain up to 25% of the risk of inheriting this heart condition. This work suggests that TGA can be the result of several gene variants rather than a single gene variant.

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

Rare genetic variants in KDR, encoding the vascular endothelial growth factor receptor 2 (VEGFR2), have been reported in patients with tetralogy of Fallot (TOF). Exome sequencing, large-scale genetic studies, and cell-based assays were conducted to explore the role of KDR genetic variation in the etiology of TOF. A 46-fold enrichment of protein-truncating variants (PTVs) in TOF cases compared to controls was identified. The findings in this study shed light on the role of VEGF signaling in TOF and justify consideration of KDR screening in TOF patients in a clinical diagnostic setting.

PRecIsion Medicine in CardiomyopathY (PRIMaCY)

Hypertrophic cardiomyopathy is the leading cause of sudden cardiac death in adolescents and young adults. Despite the availability of implantable cardioverter-defibrillators (ICD) as a life-saving intervention, the lack of precision in predicting sudden death risk hampers timely ICDs in at-risk patients resulting in deaths that could have been prevented.

PRIMaCY has developed an eHealth clinical decision support tool that generates an individualized 5-year risk prediction for sudden cardiac death (SCD) for each patient. The primary goal is to implement the PRIMaCY tool in hospital information systems for use by physicians as a point of care tool, to evaluate the effectiveness of the tool in adherence to clinical practice guidelines, and to evaluate how it influences patient/family counseling. Click the link below to explore the PRIMaCY SCD risk calculator website.

Machine Learning Identifies Clinical and Genetic Factors Associated With Anthracycline Cardiotoxicity in Pediatric Cancer Survivors

Medical advances have helped children with cancer survive into adulthood and live healthy lives. However some children can suffer from cardiac side-effects of chemotherapy, in particular, to a class of drugs called anthracyclines which are used to treat almost 50% of cancers. This can manifest as reduced heart function, or even heart failure, years to decades after exposure. Unfortunately our ability to predict who is at risk for developing cardiac side-effects has been limited.

We performed exome sequencing in close to 300 pediatric cancer survivors enrolled in a multi-center international study. We identified rare variants in several genes that influenced which children develop cardiotoxicity. Manipulating these genes experimentally with drugs or compounds was able to protect heart cells from cardiotoxicity. Additionally, using machine learning, we developed an integrated clinical and genetic model that was superior to a clinical only model in predicting who is at risk for cardiotoxicity. In the future, this knowledge could be used by physicians to decide which child should or should not be exposed to anthracyclines, which child should be closely monitored for cardiac side-effects, and which child should get cardio-protective drugs that target their unique genetic factors. This will bring precision medicine one step closer to helping childhood cancer survivors.

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