EP News: Basic and Translational January 10, 2012

Genetic Testing as a Class I Indication for Patient Care

Gersh et al (Circulation 2011;13:124, PMID 22068435) updated the ACCF/AHA Guideline for the Diagnosis and treatment of Hypertrophic Cardiomyopathy (HCM).

In this updated recommendation for HCM, genetic testing is listed as a Class I recommendation to evaluate patients with HCM. All patients who undergo genetic testing should also undergo genetic counseling. Genetic screening is recommended in first-degree relatives of patients with HCM. In addition, genetic testing is recommended for patients with an atypical clinical presentation of HCM or when another genetic condition is suspected to be the cause. However, the Task Force also played down the importance of using specific mutations to predict the likelihood of sudden cardiac death (SCD). While some earlier works found certain mutations are “malignant,” subsequent studies showed in some instances the rate of adverse events (and prevalence of associated SCD risk markers) was lower in patients with “malignant” mutations than it was in those with mutations believed to be “benign.” (more…)