Identifying children with hypertrophic cardiomyopathy at risk of sudden cardiac death

Childhood Hypertrophic Cardiomyopathy: Developing a novel risk stratification model (Dr Gabrielle Norrish)

This clinical PhD project supervised by Dr Juan Pablo Kaski, based at Great Ormond Street Hospital in London, aims to improve how doctors identify children with hypertrophic cardiomyopathy (HCM) who are at high risk of sudden cardiac death (SCD). HCM is an inherited heart muscle disease that can lead to severe heart rhythm disturbances (arrhythmias) and SCD. It’s important to be able to identify individuals at high risk of SCD to select them for preventive treatments, for instance, implantable cardioverter defibrillators (ICDs), which shock the heart back to a normal rhythm in the event of a dangerous arrhythmia. But whereas there are scoring systems that can be used in adults to help identify high risk patients, these scoring systems haven’t been developed for children. Dr Kaski and his PhD student want to change that. They will first collate information from high quality publications that report identifying risk factors for SCD in children and young people with HCM. They will summarise the results from these papers to catalogue the main risk factors in these patients. The team will then join forces with international experts in childhood HCM. They will collect anonymised data from 38 cardiac centres across the globe that make up the International Paediatric Hypertrophic Cardiomyopathy Consortium. The student will record information noted at the initial specialist doctor’s consultation, including physical examination, any family history of HCM, heart rhythm scan (ECG) results and heart echocardiogram results. Data from the latest clinical appointment will also be collected to look for any record of SCD or heart rhythm disturbances. Using the information from the literature review and the consortium data, Dr Kaski will link risk factors with outcomes to develop a tool that aims to help doctors guide the management of children with HCM, allowing treatment to be more tailored to the needs of patients .