Inherited cardiovascular conditions affect approximately 1 in 200 people worldwide. They are an important cause of sudden cardiac death in otherwise young, healthy individuals. Genetic testing may directly affect a patient’s medical management and may be the only way to identify their family members who are at increased risk of sudden death.
When should I consider genetic testing for my patient?
Patients with a personal or family history of one or more of the following may benefit from genetic testing:
- Electrocardiographic (ECG) or imaging findings suggestive of or consistent with an inherited cardiovascular condition (ex. Unexplained prolonged QT interval, unexplained left ventricular hypertrophy)
- Unexplained cardiac arrest and/or sudden death at a young age
- Unexplained syncope and/or seizures
- Unexplained elevated cholesterol and/or history of premature cardiovascular disease
- Aortic dissection/aneurysm at a young age
Genetic testing is recommended in published guidelines and position statements by multiple international societies*.
Hershberger RE et al. J Card Fail 2018;24(5):281–302
Elliott PM et al. Eur Heart J 2014;35:2733–79.
Priori SG et al. Europace 2015;17:1601–87.
Sturm AC et al. J Am Coll Cardiol 2018;72(6):662–80.