Genetic testing and counseling, along with cascade screening, are increasingly vital for identifying at-risk patients with inherited heart diseases and enabling timely treatment.
May support broader genetic testing and cascade screening in inherited heart diseases; leaves open prospective outcome validation.
PURPOSE OF REVIEW: To review the current state and different aspects, including the yield, of genetic counseling and genetic testing in inherited heart disease. RECENT FINDINGS: The number of counselees is growing rapidly all over the world, and the first studies about patients' perspectives and follow-up have been published. Progress has been made by gene-specific studies on long QT syndrome to judge the relevance of detected mutations in the specific domains. SUMMARY: With the increasing identification of associated genes and available techniques in molecular testing of the inherited heart diseases, the diagnostic yield of mutation analysis is growing rapidly. To determine the relevance of all these mutations, ongoing research is needed. Furthermore, the process of genetic counseling can be optimized and extended with cascade screening, which leads to identifying patients at risk and timely treatment.
No takes yet. Share an insight, caveat, or question.
Hofman et al. (2010) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: