Genetic counselling implementation in dilated cardiomyopathy - PubMed
7 hours ago
- #Dilated cardiomyopathy
- #Genetic testing
- #Pathogenic variant
- Genetic testing is integral in diagnosing dilated cardiomyopathy (DCM).
- Genetic testing helps identify at-risk family members and aids clinical decision-making.
- DCM's genetic understanding has evolved from monogenic to polygenic models.
- Current testing strategies still focus on monogenic inheritance with incomplete penetrance.
- Genetic testing yields vary from 8% to 36%, depending on factors like family history.
- Testing is warranted when results impact risk stratification, prognosis, or treatment.
- Various testing strategies exist, including broad or targeted multigene panels.
- Identified variants are classified, with pathogenic ones having clinical implications.
- Results should be interpreted in the context of the patient's phenotype and other factors.
- Clinical implications may include device therapy, family screening, and reproductive options.