Perspective:

The following are 10 points to remember from this state-of-the-art review dealing with genetic testing in patients with long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and Brugada syndrome (BrS):

1. In patients with LQTS, a responsible mutation can be identified in KCNQ1 (LQT1), KCNH2 (LQT2), or SCN5A (LQT3) in 75% of patients and in 1 of 13 other genes in 5% of patients.

2. In patients with LQTS, genetic testing plays a minor role for risk stratification and predicting the response to drug therapy.

3. Genotyping allows patient-specific counseling, such as avoidance of swimming in LQT1 and avoidance alarm clocks in LQT2.

4. A major role of genetic testing is to identify genotype-positive family members of a proband with LQTS who are phenotype-negative; such individuals should be counseled on avoidance of QT-prolonging drugs.

5. Approximately 50% of cases of CPVT are caused by a mutation in RYR2, which codes for the ryanodine receptor/calcium release channel; rare causes of CPVT are a mutation in CASQ2, which codes for calsquestrin 2, and a mutation in TRDN, which codes for triadin.

6. Genetic testing for CPVT is recommended for patients suspected to have CPVT based on clinical findings.

7. Mutation-specific testing should be performed in family members of genotype-positive probands with CPVT to identify at-risk relatives.

8. The yield of genetic testing is 25% in patients with BrS; mutations in SCN5A, which codes for the α-subunit of the sodium channel, are most commonly responsible for BrS.

9. Genetic testing for BrS can be helpful when the clinical picture is unclear.

10. Mutation-specific genetic screening is recommended for family members of a proband with a positive BrS genotype.