Abstract

Knowledge developed in the last decades on cardiogenetic conditions can lead to health gain at population level. Interventions and/or treatment of inherited cardiac diseases differ from those for ischaemic cardiovascular conditions. The first step is the recognition of cardiogenetic conditions such as cardiomyopathy or arrhythmia and investigation after (aborted) cardiac arrest. On a community level, multidisciplinary teams are needed including (paediatric) cardiologists, clinical geneticists, forensic or medical pathologists who elaborate regional protocols on index patients and investigations after sudden unexplained death. While DNA testing in index cases requires relatively expensive panel testing, the cascade testing of still healthy relatives will lead to more cost-effective strategies and reduction of morbidity and mortality at population level. Identifying cardiogenetic conditions by DNA testing or other tests without an indication, screening, can take place as opportunistic screening or population screening. Pilot projects are ongoing and need to be evaluated in terms of benefits and disadvantages.

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