UCL Institute of Cardiovascular Science

Regular cardiac evaluation is performed on the offspring of affected individuals who usually will have a 1:2 or 1:4 chance of inheriting the disease causing mutation. Identification of the mutation permits targeted screening of those at risk and reassurance of those who do not carry the mutation. Studying Disease Development within Families to Identify Disease Markers and Targets for Treatment Current diagnostic criteria and concepts of inherited heart disease are based on full disease expression. Evaluation of the initial changes of disease development in genetically identified family members with preclinical disease will help identify targets for prevention strategies. Performing Clinical Trials of Novel Treatments with European (ESC WG), UK (QMUL, Aberdeen) and American (Yale) Partners Genetic and biomarker studies suggest potential pathogenetic pathways as targets for new treatments. The Centre has a critical mass of patients to enable pilot studies, but sufficiently powered trials will require multi-centre trials with our partners.

Regular cardiac evaluation is performed on the offspring of affected individuals who usually will have a 1:2 or 1:4 chance of inheriting the disease causing mutation. Identification of the mutation permits targeted screening of those at risk and reassurance of those who do not carry the mutation.

Current diagnostic criteria and concepts of inherited heart disease are based on full disease expression. Evaluation of the initial changes of disease development in genetically identified family members with preclinical disease will help identify targets for prevention strategies.

Genetic and biomarker studies suggest potential pathogenetic pathways as targets for new treatments. The Centre has a critical mass of patients to enable pilot studies, but sufficiently powered trials will require multi-centre trials with our partners.