Role of Genetic Testing in Patients with Ventricular Arrhythmias in Apparently Normal Hearts

摘要

It is important to perform cardiological investigations in family members who have died suddenly, and also when there is a negative autopsy. Ventricular arrhythmias without structural heart disease are responsible for ~35% of patients who have a sudden cardiac death before the age of 40 years. It is important to isolate the DNA of persons who have died suddenly to confirm a (later diagnosed) familial arrhythmia. When a pathogenic (causal) mutation is identified in the proband, predictive testing of family members can be offered, leading to limely treatment of identified affected (presymptomatic) individuals.