Early detection of disease in cardiomyopathy mutation carriers

Principal investigator(s): Peter van Tintelen and Folkert Asselbergs

Started in: 2016

Inherited cardiomyopathies can manifest with symptoms of heart failure but can also remain undetected until life-threatening arrhythmias leading to sudden cardiac death (SCD) occur. In asymptomatic family members, early signs and symptoms can be subtle and may go unnoticed for years. Failure to detect and recognize early signs or symptoms can prove fatal in those unaware of their mutation status or familial predisposition. Therefore, e-DETECT aims to:

  • Increase awareness among family members of patients with inherited cardiac disease, medical professionals and the general public.
  • Improve early detection of disease signs, enabling risk stratification, prediction of disease and preventing complications including SCD.

A campaign to inform the general public and online tools to evaluate indications for cardiogenetic referral will be launched. The yield of novel methods to reach out to family members will be investigated and if successful, implemented into routine cascade testing. 

Advanced non-invasive imaging and non-invasive electrophysiological measurements will be performed in mutation carriers and asymptomatic family members to detect early signs of cardiac disease, with special attention to sex differences. As exemplar for all inherited cardiomyopathies, early detection at individual and cellular level will focus on patients and their family members with PLN or PKP2 gene founder mutations. 

Early detection facilitates risk stratification and timely therapeutic interventions, thereby reducing mortality and morbidity. 

A national infrastructure will be developed to facilitate biomarker discovery and follow-up research. Extensive genetic and phenotypic (including imaging) data will be stored and integrated into a central data warehouse to facilitate data sharing and guarantee long-term sustainability of the registries. 

As such, e-DETECT will help in the prevention of cardiac dysfunction and SCD among young, apparently healthy individuals. By 2030, the consortium aims to increase the uptake of cascade testing in family members by 50% and thereby detect up to 25% more patients at true risk. This increased uptake will enable regular follow up and timely treatment, thereby reducing morbidity and mortality.


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