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The Pediatric & Congenital Health Team

The Pediatric Team is co-led by Dr. Seema Mital and Dr. Aamir Jeewa, both from SickKids, Toronto, ON, Canada.  

Cardiomyopathies (CMP) and congenital heart diseases (CHD) are the leading causes of heart failure (HF) in children, with a growing number of children and young adults requiring lifelong cardiac care. There are no targeted therapies and drugs developed for adults have limited efficacy in children. Children are often diagnosed late, with under-recognition of diastolic HF (DHF) and right ventricular failure. Therefore, the objectives of the pediatric team are:

  1. Develop and validate an AI-based model to diagnose DHF in pediatric CMP;

  2. Implement remote physiological monitoring (RPM) to assess feasibility and utility in pediatric CMP;

  3. iP2P program to improve self-management in adolescent and transitioning patients. 

“...At some point our son's heart will begin to fail. It's painful to acknowledge, but it is his reality, and the older he gets the more we find ourselves in search of support related to the onset of heart failure in children; treatment plans, prognoses, and how kids fare once they transfer to adult care.”
– CHF Alliance Caregiver Partners
Team Leads
Dr. Seema Mital_2.jpg

Dr. Seema Mital

Dr. Aamir Jeewa

Aim 1

An Artificial Intelligence approach for DHF


Diastolic dysfunction is often diagnosed at a late stage. Adult echocardiographic guidelines do not reliably identify DHF in children due to complex interactions and age-related changes in diastolic parameters (1). Delayed diagnosis has stalled progress in the classification and treatment of HF. The team identified rare and common genetic variants (polygenic risk) as predictors of outcomes in cardiomyopathy that have not been evaluated in DHF (2-6). More recently, the team used AI to combine echocardiographic, genetic, and clinical parameters to predict invasively measured filling pressures in children (7), to subclassify cardiomyopathy patients at risk for adverse outcomes, and to identify a unique biological profile of DHF in cardiomyopathy. Building on this foundational work the team will apply AI approaches to clinical, biological, physiological and lifestyle data in order to diagnose and predict DHF and clinical outcomes in cardiomyopathy and assess response to therapy (8, 9).

Therefore, the team is conducting a retrospective cohort study utilizing biospecimens and data available from patients with a diagnosis of primary cardiomyopathy through the multi-centre Heart Centre Biobank Registry (HCBR) at SickKids as the discovery cohort. Molecular profiling (genome sequencing, transcriptomics, metabolomics, proteomics, radiomics) and deep clinical phenotyping will be analyzed using AI methods to identify distinct diastolic dysfunction phenogroups, define the biological and clinical drivers of the phenogroups, and assess the outcomes and response to therapy by phenogroups. The ultimate goal is to generate a model that predicts diastolic HF outcomes and identify new therapeutic targets.


To date, 323 eligible probands (not including family members) have been identified from HCBR participants (Discovery cohort). Serial phenotyping and outcomes data have been collected in a majority of patients, and biological data has been generated through whole genome sequencing, RNA sequencing of LV myocardium and/or blood, and proteomics of LV myocardium.

Using clinical, imaging, transcriptomics and proteomics data from the first 70 pediatric cardiomyopathy patients, the team identified a molecular signature that classifies diastolic dysfunction and improves the performance of a prediction model for diastolic HF. Data collection and analyses are ongoing.

Pediatric team members

Dr. Samantha Anthony 

Aim 2

Remote physiological monitoring in HF

Current approaches to assessing HF severity rely on symptoms or surrogate measures such as peak VO2, which are difficult to assess in young children (10). Digital technologies that allow continuous home monitoring are sensitive to small physiological changes that can detect HF progression before symptoms worsen (11). Indeed, the pediatric group has shown that changes in heart rate are associated with a global index of cardiac performance, which in turn predicts outcomes (12, 13). Studies have reported positive parental attitudes toward home monitoring (14). However, the pediatric experience has been largely limited to pilot studies with adult devices. Through industry collaboration, the team has initiated pediatric validation of a Bluetooth-enabled smart textile that can collect and trend physiological parameters in children. Preliminary work has begun to assess feasibility and patient experience in high-risk pediatric cardiac populations.

The pediatric team will conduct a multi-center pilot clinical trial to assess the feasibility of implementing wearable technology for RPM in 100 eligible CMP patients younger than 18 years. The team partners with Myant for the smart textile and with mmHg Inc. for the data visualization platform. This pilot study will assess feasibility, acceptability, and patient experience, as well as characterize physiological trends among CMP subtypes. This will help optimize implementation in geographically diverse urban, rural and remote communities. The protocol has been conditionally approved by the Researech Ethics Board at the Stollery Children's hospital, based on Health Canada approval of the Medical Device Investigational Testing Application (ITA) for the Skiiins Underwear band in pediatric patient. Dr. Jennifer Conway of Stollery Children's Hospital (Edmonton, AB, Canada) leads the project, which should also take place in 3 other sites: The Hospital for Sick Childen, CHU Ste-Justine and BC Children's Hospital.

Dr. Jennifer Conway 
University of Alberta

Aim 3

iPeer2Peer program

Successful outcomes in HF require adherence to Guideline-Directed Medical Therapy (GDMT) by patients who are fully engaged and empowered in self-managed care. 75% of adolescent and young adult HF patients experience a gap in care during the transition from pediatric to adult services, with adolescents with HF reporting lower health related quality of life, delays in cognitive and psychological functioning, and higher rates of anxiety and depression, particularly during the transition to adult services (15, 16). Peer mentorship has been associated with improved health outcomes and benefits for both mentees and mentors (17-21). Access to pediatric and young adult patients in our network provides an opportunity to offer peer mentoring to help this high-risk population.

The iP2P program is a mentoring program for adolescent and transitioning HF patients. The objectives are: to determine the implementation effectiveness of the iP2P program in terms of feasibility, adoption, acceptability, appropriateness, and level of engagement; and to determine the preliminary effectiveness of the iP2P program on improving health outcomes, including disease self-management skills, adherence to prescribed care, quality of life, perceived social support, and stress and coping. This will be a multisite study that matches trained peer mentors with mentees. Mentors and mentees will connect virtually to provide peer support and promote self-management skills. The project is led by Dr. Samantha Anthony of SickKids (Toronto, ON, Canada) and has been approved by the Review Ethics Board at SickKids, the Stollery and CHU Ste-Justine (under review at the BC Children's Hospital). Mentor recruitment has begun at SickKids and the Stollery. Mentee recruitment will begin after mentor training.

Importantly, during the last year, the team initiated new collaborations through the Alliance to expand their iP2P program to young adult patients and received funding from Heart & Stroke to move this initiative forward through a feasibility study.

Pediatric Team Members

Dr. Seema Mital - Cardiologist, Professor, The Hospital for Sick Children, University of Toronto (objective 1)

Dr. Mark Friedberg - Cardiologist, Professor, The Hospital for Sick Children, University of Toronto (objective 1)

Dr. Luc Mertens - Section Head Echocardiography, Cardiologist, Professor,  The Hospital for Sick Children, University of Toronto (objective 1)

Raj Akilen - Project Manager, The Hospital for Sick Children (objective 1)

Dr. Rafik Tadros - Cardiologist, Montreal Heart Institute, Université de MOntréal (objective 1)

Dr. Mjaye Mazwi - Cardiologist, Professor, Seattle Children's Hospital (objectives 1 & 2)

Dr. Luis Altamirano-Diaz - Cardiologist, Associate Professor, London Health Sciences Centre, Western University (objective 1)

Dr. Tapas Mondal - Cardiologist, Professor, McMaster Children’s Hospital, McMaster University (objective 1)

Dr. Erwin Oechslin - Cardiologist, Professor, Toronto General Hospital, University of Toronto (objective 1)

Dr. Jane Lougheed - Cardiologist, Associate Professor, Children’s Hospital of Eastern Ontario, University of Ottawa (objective 1)

Dr. John Smythe - Cardiologist, Associate Professor, Kingston General Hospital (objective 1)

Dr. Aamir Jeewa - Cardiologist, Associate Professor, The Hospital for Sick Children, University of Toronto (objective 2)

Dr. Aine Lynch - Cardiologist, Columbia University Irving Medical Center (objective 2)

Dr. Jennifer Conway - Cardiologist, Associate Professor, Stollery Children’s Hospital, University of Alberta (objective 2)

Tara Pidborochynski - Project Coordinator,  Stollery Children’s Hospital (objective 2)

Dr. Kathryn Armstrong - Cardiologist, Clinical Associate Professor, British Columbia Children’s Hospital, University of British Columbia (objectives 2 & 3)

Dr. Nassiba Alami - Cardiologist, Pediatric Heart Transplant and HF specialist, CHU Sainte-Justine, Université de Montréal (objectives 2 & 3)

Michelle and Matthew Waddington - Caregivers (objectives 2 & 3)

Dr. Chentel Cunningham - Nurse Practitioner, Stollery Children’s Hospital (objective 2)

Dr. Frederic Dallaire - Cardiologist, Professor, Université de Sherbrooke (objectives 2 & 3)

Dr. Kenny Wong - Cardiologist, Professor, IWK Children’s Heart Centre, Dalhousie University (objectives 2 & 3) 

Dr. Emilie Jean-St-Michel - Cardiologist, Assistant Professor, Prince George Paediatrics British Columbia, University of British Columbia (objective 2) 

Dr. Samantha Anthony - Health Clinician Scientist, Associate Professor, The Hospital for Sick Children, University of Toronto (objective 3)

Sarah Pol - Project Manager, The Hospital for Sick Children (objective 3)

Jia Lin - Project Manager, The Hospital for Sick Children

Dr. Sara Ahola Kohut - Psychologist, Assistant Professor, The Hospital for Sick Children, University of Toronto (objective 3)

Dr. Jennifer Stinson - Clinical Scientist, Professor, The Hospital for Sick Children, University of Toronto (objective 3)

Dr. Jasmine Grewal - Cardiologist, Professor, St. Paul’s Hospital, University of British Columbia  (objective 3)

Dr. Conall Morgan - Cardiologist, Associate Professor,  The Hospital for Sick Children, University of Toronto (objective 1)

Dr. Marie-A. Chaix - Cardiologist, Clinical Assistant Professor, Montreal Heart Institute, Université de Montréal (objective 3)

Adrien D'Alonzo - Project Manager, The Hospital for Sick Children (objectives 1,2 & 3)


1. Dragulescu A, Mertens L and Friedberg MK. Interpretation of left ventricular diastolic dysfunction in children with cardiomyopathy by echocardiography: problems and limitations. Circulation Cardiovascular imaging. 2013;6:254-61.

2. Mathew J ZL, Wilson J, George K, and coll. Utility of Genetics for Risk Stratification in Pediatric Hypertrophic Cardiomyopathy. Clinical Genetics. 2018;93:310-319.

3. Kaufman BD, Auerbach S, Reddy S, and coll. RAAS gene polymorphisms influence progression of pediatric hypertrophic cardiomyopathy. Human genetics. 2007;122:515-23.

4. Pieles GE, Alkon J, Manlhiot C, and coll. Association between genetic variants in the HIF1A-VEGF pathway and left ventricular regional myocardial deformation in patients with hypertrophic cardiomyopathy. Pediatric research. 2021;89:628-635.

5. Alkon J, Friedberg MK, Manlhiot C, and coll. Genetic variations in hypoxia response genes influence hypertrophic cardiomyopathy phenotype. Pediatric research. 2012;72:583-92.

6. Tadros R, Francis C, Xu X, and coll. Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect. Nature genetics. 2021;53:128-134.

7. Nguyen MB DA, Chaturvedi R, Fan C-P-S, and coll. Relating Echocardiographic Parameters to Invasive Pressure Measurements in Pediatric Left Ventricular Diastolic Function Assessment. (submitted). 2021.

8. Garcia-Canadilla P S-MS, Martí-Castellote PM, Slorach C, and coll. Machine-learning based exploration, combining echocardiographic and clinical parameters, to identify remodeling patterns associated with death or heart-transplant in pediatric dilated cardiomyopathy. J Heart Lung Transplant (In Press). 2021.

9. Shah SJ, Katz DH, Selvaraj S, and coll. Phenomapping for novel classification of heart failure with preserved ejection fraction. Circulation. 2015;131:269-79.

10. Kantor PF, Lougheed J, Dancea A, and coll. Presentation, diagnosis, and medical management of heart failure in children: Canadian Cardiovascular Society guidelines. The Canadian journal of cardiology. 2013;29:1535-52.

11. Tandon A and de Ferranti SD. Wearable Biosensors in Pediatric Cardiovascular Disease. Circulation. 2019;140:350-352.

12. Friedberg MK and Silverman NH. The systolic to diastolic duration ratio in children with heart failure secondary to restrictive cardiomyopathy. Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography. 2006;19:1326-31.

13. Friedberg MK and Silverman NH. Cardiac ventricular diastolic and systolic duration in children with heart failure secondary to idiopathic dilated cardiomyopathy. The American journal of cardiology. 2006;97:101-5.

14. Fish LA and Jones EJH. A survey on the attitudes of parents with young children on in-home monitoring technologies and study designs for infant research. PloS one. 2021;16:e0245793.

15. Hollander SA and Callus E. Cognitive and psycholologic considerations in pediatric heart failure. Journal of cardiac failure. 2014;20:782-785.

16. Mackie AS, Rempel GR, Kovacs AH, and coll. Transition Intervention for Adolescents With Congenital Heart Disease. Journal of the American College of Cardiology. 2018;71:1768-1777.

17. Ahola Kohut S, Stinson J, Forgeron P, and coll. Been There, Done That: The Experience of Acting as a Young Adult Mentor to Adolescents Living With Chronic Illness. Journal of pediatric psychology. 2017;42:962-969.

18. Ahola Kohut S, Stinson J, Forgeron P, and coll. A qualitative content analysis of peer mentoring video calls in adolescents with chronic illness. Journal of health psychology. 2018;23:788-799.

19. Ahola Kohut S, Stinson JN, Ruskin D, and coll. iPeer2Peer program: a pilot feasibility study in adolescents with chronic pain. Pain. 2016;157:1146-1155.

20. Anthony SJ, Young K, Ghent E, and coll. Exploring the potential for online peer support mentorship: Perspectives of pediatric solid organ transplant patients. Pediatric transplantation. 2021;25:e13900.

21. Stinson J, Ahola Kohut S, Forgeron P, and coll. The iPeer2Peer Program: a pilot randomized controlled trial in adolescents with Juvenile Idiopathic Arthritis. Pediatric rheumatology online journal. 2016;14:48.

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