Heart Diseases: Young People

To reduce the risks of sudden cardiac death, NHS England has a published a national service specification for inherited cardiac conditions that covers patients who often present as young adults with previously undiagnosed cardiac disease or families requiring follow-up due to a death from this cause. This describes the service model and guidance that should be followed to support diagnosis and treatment of patients or family members. It also includes the requirement for specialised inherited cardiac conditions services to investigate suspected cases.

NHS England is currently reviewing this service specification in line with the national service specification methods review process. NHS England is working with a broad range of stakeholders as part of this review including National Health Service clinical experts, the Association of Inherited Cardiac Conditions, Cardiomyopathy UK, Heart Valve Voice and the British Heart Foundation.

Genomics has an important role to play in diagnosing and supporting the treatment and management of several cardiac conditions. The National Genomic Test Directory sets out the eligibility criteria for patients to access testing as well as the genomic targets to be tested and the method that should be used and this includes genomic testing for a number of conditions which affect the heart, including, for example, testing for familial hypercholesterolaemia (FH), cardiomyopathies, long QT syndrome, Brugada syndrome and others. The directory is available at the following link:

https://www.england.nhs.uk/publication/national-genomic-test-directories/