Research Training Fellowship* Dr Sara Moscatelli
Arrhythmogenic cardiomyopathy (ACM) describes a group of very rare inherited heart conditions where the heart muscle cells don’t stick together properly and the walls of the heart can become weak. Some children do not have any symptoms of ACM, but they may still be at risk of life-threatening complications such as cardiac arrest. Dr Sara Moscatelli of Great Ormond Street Hospital, London, is aiming to identify early signs of ACM in children that can help predict how the disease will develop. This could lead to personalised approaches to disease management and treatment that can help prevent sudden and unexpected death in children with ACM.
How are children’s lives affected now?
ACM is caused by a problem with a type of protein in the heart. These proteins normally act like strong glue to stick cells together. When the cells in the heart muscle don’t stick together properly, the walls of the heart can become weak.
“A child’s heart may not be able to pump blood as well as it should – which can cause symptoms such as abnormal heart rhythms, fainting, breathlessness and chest pain,” says Dr Moscatelli. “They are also at risk of developing serious complications such as cardiac arrest – which although rare, can sadly result in sudden, unexpected loss of life.”
While there’s no cure for ACM, treatments can help to reduce and control symptoms, and the risk of complications. These work by helping the heart pump better and controlling abnormal heart rhythms. However, current approaches for treating and managing children with ACM are currently determined from data in adult populations.
“ACM is still one of the leading causes of sudden and unexpected death in young people,” says Dr Moscatelli. “Early diagnosis and prompt treatment could help save lives.”
How could this research help?
“We aim to identify early features of ACM that can predict disease development in children – paving the way to personalised treatment and management to help prevent life-threatening complications,” says Dr Moscatelli.
This research will involve a large group of children who either already have symptoms of ACM or carry the faulty gene.
“We will use a combination of advanced heart scans and state-of-the-art protein analyses of urine, blood and cheek cell samples alongside machine-learning techniques – to identify clinical and molecular changes that can indicate the appearance of symptoms or progression of ACM,” says Dr Moscatelli.
The team plan to combine these data to develop a model that can predict which children with ACM are more likely to develop symptoms. They also hope to deepen understanding of how the disease develops in children, which may lead to the identification of new targeted treatments.
We anticipate that the findings of this work could help children within two years of completing the study.
*Research Training Fellowships:
Each year, Action Medical Research awards these prestigious grants to help the brightest and best doctors and scientists develop their career in medical research.
Research table
Project details
| Project Leader | Dr Sara Moscatelli, MD, Msc |
| Location | Centre for Paediatric Inherited and Rare Cardiovascular Disease, UCL Institute of Cardiovascular Science, Great Ormond Street Hospital, London |
| Project Team |
Professor Juan Pablo Kaski, MD(Res) FRCP FESC
Dr Gabrielle Norrish, MD, PhD Professor Vivek Muthurangu, MD Professor Kevin Mills, PhD Dr Angeliki Asimaki, PhD |
| Other Locations |
Translational Mass Spectrometry Group, UCL Great Ormond Street Institute of Child Health
Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital Molecular and Clinical Sciences Research Institute, St George’s University of London |
| Grant Awarded | |
| Grant Amount | £249,907 |
| Start Date | |
| End Date | |
| Duration | 35 months |
| Grant Code (GN number) | GN3008 |
We do not provide medical advice. If you would like more information about a condition or would like to talk to someone about your health, contact NHS Choices or speak to your GP.