Figure 1.

The above diagram shows the latest American Heart Association (AHA) approach to the evaluation of patients with a confirmed or suspected diagnosis of inherited cardiovascular disease. VUS indicates a variant of uncertain significance.

The AHA has outlined the specific strategies for genetic testing and heart disease. The above recommendations are based on the latest medical literature. In speaking with your doctor about whether or not you should undergo genetic testing, make sure there is either a confirmed diagnosis in the family or a reason for high suspicion such as a previously identified pathologic variant in the family.

The first critical element is rigorous, disease-appropriate phenotyping, and commitment to follow through with the genetic testing by the patient and family.

The second critical element is obtaining a comprehensive family history that spans at least 3 generations.

The key to success in determining genetic associations with heart disease will be to satisfy the above two criteria.

Your healthcare provider often will need to test the patient presenting to the clinic first, but in principle, the family member with the most definitive and most severe phenotype should be the one initially tested to increase the chances of identifying pathogenic variant(s) useful for familial testing.



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Dr. Drew Sutton