Understanding the Genetic Architecture of Paediatric Cardiomyopathies (360G-Wellcome-222883_Z_21_Z)

Childhood cardiomyopathies are serious disorders that affect the heart muscle. They are the leading cause of heart transplant in children. Most cases develop from a genetic cause. Current genetic tests are limited and only reveal the diagnosis in approximately one third of patients. It remains unclear how certain genes play a role in the development and severity of disease in individual cases. Making a genetic diagnosis is important as it can help predict disease course, guide treatment and can impact family screening and reproductive choices. It has been challenging to study the genetics of childhood cardiomyopathy because it is a rare condition with many different genes and genetic mutations (changes in the DNA sequence) involved. Our purpose is to improve the understanding of the genetic cause of childhood cardiomyopathies. We plan to recruit children affected by severe cardiomyopathy and their parents. We will expand genetic testing to look at all genes, not just a select few. The genetic data will then be analysed using state-of-the-art software tools. We aim to identify new genes and genetic mutations that cause cardiomyopathy in children. These discoveries will provide diagnoses for patients and families and are the first step towards identifying new treatments.