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Practice Guidelines for Genetic Testing
The Heart Failure Society of America’s recent practice guideline titled Genetic Evaluation of Cardiomyopathy joins the ACC/AHA/ESC guidelines for management of patients with ventricular arrhythmias and prevention of sudden cardiac death in recommending genetic testing for numerous congenital cardiac diseases including those that can be identified by the FAMILION tests.
Selected Excerpts
Long QT Syndrome:
“Genetic analysis is very important for identifying all mutation carriers within an LQTS family: Once identified, silent carriers of LQTS genetic defects may be treated with beta-blockers for prophylaxis of life-threatening arrhythmias. Furthermore, silent mutation carriers should receive genetic counseling to learn about the risk of transmitting LQTS to offspring.”
“In patients affected by LQTS, genetic analysis is useful for risk stratification and for making therapeutic decisions. Although genetic analysis is not yet widely available, it is advisable to try to make it accessible to LQTS patients.”
Catecholaminergic Polymorphic Ventricular Tachycardia:
“Genetic analysis may help identify silent carriers of catecholaminergic VT-related mutations; once identified silent carriers may be treated with beta-blockers to reduce the risk of cardiac events and may receive appropriate genetic counseling to assess the risk of transmitting the disease to offspring.”
Brugada Syndrome:
“Genetic analysis may help identify silent carriers of Brugada syndrome-related mutations so that they can remain under clinical monitoring to detect early manifestations of the syndrome. Furthermore, once identified, silent mutation carriers should receive genetic counseling and discuss the risk of transmitting the disease to offspring.”
Hypertrophic Cardiomyopathy:
"Genetic analysis is useful in families with HCM because whenever a pathogenic mutation is identified, it becomes possible to establish a presymptomatic diagnosis of the disease among family members and to provide them with genetic counseling to assess the risk of disease development and transmission of the disease to offspring. Genetic analysis may contribute to risk stratification in selected circumstances.”
Arrhythmogenic Right Ventricular Cardiomyopathy:
“Genetic analysis is useful in families with RV cardiomyopathy, because whenever a pathogenic genetic mutation is identified, it becomes possible to establish a presymptomatic diagnosis of the disease among family members and to provide them with genetic counseling to monitor the development of the disease and to assess the risk of transmitting the disease to offspring. Based on current knowledge genetic testing does not contribute to risk stratification of ARVC.”
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