A genetic diagnosis for an inherited heart disease enables cascade screening of at-risk family members. A positive gene result identifies asymptomatic gene carriers at the earliest preclinical stages of disease development, and a negative gene result provides reassurance and eliminates years of unnecessary clinical surveillance. Commercial genetic tests are available for most inherited heart diseases.
- Most inherited heart diseases have an autosomal dominant inheritance.
- Inherited heart diseases are clinically and genetically diverse.
- The key role of genetic testing for inherited heart diseases is cascade screening of at-risk family members.
- Pre- and post-test genetic counselling is required in all cases.
- The optimal model of care is a specialised multidisciplinary clinic approach.
Picture credit: © Superstock/Science Picture Co/Diomedia.com