Hypertrophic Cardiomyopathy (HCM)


2x3bHCM is the commonest inherited cardiac disease (affecting 1 in 500) and is clinically important, being the commonest cause of sudden death in young adults. Lifesaving treatment (implantable defibrillator) is available for those found to be affected and to show markers of risk. Individually rare, often private, autosomal dominant missense mutations in diverse contractile protein genes cause the disease in ~60% of cases [Watkins NEJM 2011]. Genetic diagnosis is now central to patient and family management [eg. HRS/EHRA US/European guidelines]. However, 40% of probands are ‘myofilament-gene’ negative on screening; such patients are more numerous than those with all other monogenic cardiac diseases combined and so constitute a major unmet need. Within this demonstrably heterogeneous group are clearly familial forms of cardiomyopathy (i.e. the focus of this bid – the familial subset of myofilament-negative HCM) which together occur at <1:2000 population.

Recruitment Criteria

Inclusion Criteria: Myofilament-gene negative

Centres at which HCM is currently recruiting:

Newcastle upon Tyne Hospitals NHS Foundation Trust
Oxford University NHS Trust
University Hospital Southampton NHS Foundation Trust

University Hospitals of Leicester NHS Trust
*Ninewells Hospitals Tayside NHS in progress

Professor Hugh Watkins, University of Oxford