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 enroll. If you are a parent who has not yet participated and would like to, please contact us! Participation can also be coordinated by mail.

Recent Highlights

Myosin inhibitor reverses hypertrophic cardiomyopathy in genotypically diverse pediatric iPSC-cardiomyocytes to mirror variant correction

Pathogenic variants in MYH7 and MYBPC3 account for the majority of hypertrophic cardiomyopathy (HCM). Targeted drugs like myosin ATPase inhibitors have not been evaluated in children. By generating patient and variant-corrected iPSC-cardiomyocytes from pediatric HCM patients harboring single variants in MYH7, MYBPC3 or digenic variants. Compared with isogenic and healthy controls, variant-positive CMs show sarcomere disorganization, higher contractility, calcium transients, and ATPase activity. However, only MYH7 and biallelic MYBPC3 variant-positive CMs show stronger myosin-actin binding. Targeted myosin ATPase inhibitors show complete rescue of the phenotype in variant-positive CMs and in cardiac Biowires to mirror isogenic controls. The response is superior to verapamil or metoprolol. Myosin inhibitors can be effective in genotypically diverse HCM highlighting the need for myosin inhibitor drug trials in pediatric HCM. Full article here

Read Ted Rogers Centre for Heart Research summary here.

Whole genome sequencing reveals new genetic marker for cardiomyopathy

Using computational methods developed at SickKids, scientists identify tandem repeats are expanded in DNA of patients with cardiomyopathy. Full SickKids article here.

The SickKids-led study, published in eBioMedicine, part of The Lancet Discovery Science, indicates that tandem repeats – a form of genetic variation – are more often expanded in individuals with cardiomyopathy, and may cause four per cent of cases. Tandem repeat expansions (TREs) are known to contribute to over 60 conditions, often with a hereditary component.

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.

SickKids VS: Heal The Future

The SickKids VS: Heal The Future campaign showcases the Precision Medicine for Cardiomyopathy (PRIMaCY) risk calculator. Full Toronto Star article here. 

“At the forefront of the campaign is Precision Child Health, or PCH — a model of care that focuses on an individual patient’s needs ranging from their genetic code to their postal code, SickKids says. “The goal is to is to make sure we’re providing effective therapies and tailoring it to the needs of the child,” said Dr. Seema Mital, a cardiologist and head of cardiovascular research at the hospital. PCH means using data and other technology to diagnose patients quicker, treat them more effectively and better predict illness.”

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. 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.

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. This international cohort study in pediatric HCM patients found having 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. 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 the majority of cases remain gene-elusive. Using 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.

Contact Us

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