Heart Rhythm Studies
International Pediatric CPVT Registry
Health information is being collected on CPVT, a disorder which causes individuals’ hearts to beat very fast and irregularly when they are experiencing some kind of strong emotion or when they’re engaging in physical activity. This information from children and families around the world will be used to find specific signs to help doctors predict who is at risk for this heart disorder.
Who can participate?
- Anyone diagnosed with CPVT at age 19 or younger and their first-degree relatives (biological mother, father, full siblings, and children).
Neurologic and Cardiac Phenotype in Patients with CPVT
Researchers have noticed that some people with CPVT – especially those with variants in RYR2 – may also experience neurologic or neurodevelopmental challenges (like seizures, learning differences, attention challenges, or autism spectrum traits). This study aims to screen for neurodevelopmental disorders (NDD) in a large group of children with CPVT and better understand the cardiac course of CPVT in children who may also have NDD features.
Who can participate?
- Anyone between the ages of 3 and 19 who has been diagnosed with CPVT before age 18.
BC Inherited Arrhythmia Research Program Data Registry
A collection of health information from patients across BC with one of the following inherited heart rhythm problems: arrhythmogenic right ventricular cardiomyopathy (ARVC), hypertrophic cardiomyopathy (HCM), long QT syndrome (LQTS), short QT syndrome (SQTS), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT). These patients are also enrolled in the HiRO (Hearts in Rhythm Organization) registry, which includes CASPER (people who have had a sudden cardiac arrest or sudden unexpected death, as well as their first-degree family members). This information will help researchers and doctors learn more about these problems and put together better treatment plans.
Who can participate?
- Anyone under the age of 19 with an inherited arrhythmia and their first-degree relatives (biological mother, father, full siblings, and children).
Identification and Functional Characterization of Mutations Implicated in Inherited Arrhythmia Syndromes
This study aims to better understand new changes in genes (mutations) and how they contribute to inherited arrhythmia syndromes. In collaboration with leading scientists in the field, we will examine how these mutations change the function of the heart. Results will help us better understand how mutations contribute to heart rhythm disorders.
Who can participate?
- Anyone who has been diagnosed with or is being investigated for an inherited arrhythmia, or who is a first degree relative (parent, child, or full sibling) of someone who has been diagnosed with or is being investigated for an inherited arrhythmia.
Genetic Investigations in Atrial Arrhythmias
This study aims to learn more about the mutations that people have who have been diagnosed with an abnormal rhythm in the top part of the heart (the atrium) called atrial fibrillation. This study involves providing a small sample of your blood to be processed for blood cells to obtain DNA. The researchers will use these cells to try to learn more about heart diseases.
Who can participate?
- Anyone with a diagnosis of atrial arrhythmia before the age of 21.
CRDS Diagnose
Calcium Release Deficiency Syndrome (CRDS) is a lethal condition which is newly described, difficult to diagnose, and lacking effective and informed therapies. The purpose of this study is to investigate the possibility that pacing the heart or delivering an electrical stimulus and observing the electrical response on electrocardiogram (ECG) can be used to make a diagnosis of CRDS. This study is designed to perform 2-4 brief periods of heart pacing (each lasting 5-10 seconds) that are routinely performed as part of a standard electrophysiology study or device interrogation and are comparable to those performed on standard clinical ICD testing during routine follow up visits.
Those diagnosed with CRDS or those who have a possible diagnosis of CRDS are also eligible to enroll in a CRDS Registry study. The purpose of this registry is to establish a large data set of individuals diagnosed with CRDS, along with individuals that have genetic changes that could potentially place them at risk for a CRDS-like condition, from around the world. By collecting data on clinical history, genetic testing, diagnostic procedures, treatment interventions, and outcomes, we aim to understand what CRDS looks like, what might increase the risk of dangerous heart rhythms, how to improve diagnosis, which treatments may work best, and how to tell CRDS apart from similar conditions that don’t involve an underactive protein.
Who can participate?
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Diagnosis of CRDS with presence of DNA variant that causes an underactive or loss-of-function RYR2
OR -
Diagnosis of CPVT
OR -
Unexplained cardiac arrest
OR - Undergoing an electrophysiology study for SVT.
Brugada Syndrome Registry
This study is designed to collect information on children and adolescents with Brugada syndrome to determine the best management in terms of diagnosis and treatment. We hope to gain a better understanding on the characteristics of children that could manifest the disease early in their lives, in order to protect them and provide their families with optimal care.
Who can participate?
- Anyone diagnosed with Brugada syndrome before the age of 20.
SVT – Milestone Pharmaceuticals
This is a clinical trial that is testing a new drug, etripamil, to stop episodes of supraventricular tachycardia (SVT). Etripamil is a calcium channel blocker designed to slow down the heart rate by reducing calcium entry into the heart and blood vessels. It is delivered as a nasal spray, allowing for rapid onset of action during a fast heart rhythm episode. Over 2000 adults have received it in other clinical trials, but this is the first time it’s being tested on children.
Who can participate?
- Anyone between the ages of 12 and 18 who has a history of SVT documented by ECG. If an ablation has been done to treat SVT, then documented evidence of SVT on ECG post-ablation is required.
For more information about electrophysiology research, or if you think you or your child might be interested in participating in one of these studies, please contact the electrophysiology research team at heartbeat@cw.bc.ca or 604-875-2345 (ext. 7955).
