| TABLE OF CONTENTS | |
| 1. Introduction | 4 |
| 1.1. Purpose | 4 |
| 1.2. Organization of the writing committee | 4 |
| 1.3. Methodology and evidence review | 4 |
| 1.4. Document review and approval | 5 |
| 1.5. Scope of the document | 5 |
| 2. Genetic influences on disease and modes of inheritance | 5 |
| 3. Different methods of genetic testing | 8 |
| 3.1. Methods to interrogate genetic variation | 8 |
| 3.2. Genome‐wide association study and polygenic risk scores | 11 |
| 4. Choice of genetic tests and interpretation of variants | 12 |
| 4.1. Background | 13 |
| 4.1.1. Use of the obtained genetic knowledge | 13 |
| 5. State of genetic testing for inherited arrhythmia syndromes | 14 |
| 5.1. Long QT syndrome | 14 |
| 5.1.1. Impact of genetic testing for the index case | 14 |
| 5.1.2. Background | 15 |
| 5.1.3. Summary of the major long QT syndrome genes | 15 |
| 5.1.4. Prognostic and therapeutic implications of long QT syndrome genetic testing | 17 |
| 5.1.5. Acquired long QT syndrome | 17 |
| 5.2. Catecholaminergic polymorphic ventricular tachycardia | 18 |
| 5.2.1. Impact of genetic testing for the index case | 18 |
| 5.2.2. Background | 18 |
| 5.2.3. Diagnostic implications of catecholaminergic polymorphic ventricular tachycardia genetic testing | 18 |
| 5.2.4. Prognostic and therapeutic implications of catecholaminergic polymorphic ventricular tachycardia genetic testing | 20 |
| 5.3. Brugada syndrome | 20 |
| 5.3.1. Impact of genetic testing for the index case | 20 |
| 5.3.2. Background | 20 |
| 5.3.3. Diagnostic implications of Brugada syndrome genetic testing | 21 |
| 5.3.4. Prognostic and therapeutic implications of Brugada syndrome genetic testing | 22 |
| 5.4. (Progressive) cardiac conduction disease | 22 |
| 5.4.1. Impact of genetic testing for the index case | 22 |
| 5.4.2. Background | 22 |
| 5.4.3. Diagnostic implications of genetic testing in cardiac conduction disease/progressive cardiac conduction disease | 23 |
| 5.4.4. Prognostic and therapeutic implications of genetic testing | 23 |
| 5.5. Short QT syndrome | 25 |
| 5.5.1. Impact of genetic testing for the index case | 25 |
| 5.5.2. Background | 25 |
| 5.5.3. Diagnostic implications of short QT syndrome genetic testing | 25 |
| 5.5.4. Prognostic and therapeutic implications of short QT syndrome genetic testing | 26 |
| 5.6. Atrial fibrillation | 26 |
| 5.6.1. Impact of genetic testing for the index case | 26 |
| 5.6.2. Background | 26 |
| 5.6.3. Genetic forms of atrial fibrillation | 27 |
| 5.7. Sinus node disease | 28 |
| 5.7.1. Impact of genetic testing for the index case | 28 |
| 5.7.2. Background | 28 |
| 5.7.3. Diagnostic implications of genetic testing in sinus node dysfunction | 28 |
| 5.7.4. Prognostic and therapeutic implications of genetic testing | 30 |
| 5.8. Early repolarization syndrome | 30 |
| 5.8.1. Impact of genetic testing for the index case | 30 |
| 5.8.2. Background | 30 |
| 5.9. Wolff–Parkinson–White syndrome | 31 |
| 5.9.1. Background | 31 |
| 5.9.2. Genetics of Wolff–Parkinson–White | 31 |
| 6. State of genetic testing for cardiomyopathies | 31 |
| 6.1 Hypertrophic cardiomyopathy | 31 |
| 6.1.1. Impact of genetic testing for the index case | 31 |
| 6.1.2. Background | 31 |
| 6.1.3. Diagnostic implications of genetic testing | 32 |
| 6.1.4. Prognostic and therapeutic implications of genetic testing | 34 |
| 6.2. Dilated cardiomyopathy | 34 |
| 6.2.1. Impact of genetic testing for the index case | 34 |
| 6.2.2. Background | 34 |
| 6.2.3. Diagnostic implications of dilated cardiomyopathy genetic testing | 35 |
| 6.2.4. Prognostic and therapeutic implications of dilated cardiomyopathy genetic testing | 36 |
| 6.3. Arrhythmogenic cardiomyopathy | 37 |
| 6.3.1. Background | 37 |
| 6.3.2. Diagnostic implications of arrhythmogenic cardiomyopathy genetic testing | 37 |
| 6.3.3. Prognostic and therapeutic implications of arrhythmogenic cardiomyopathy genetic testing | 39 |
| 6.4. Left ventricular non‐compaction cardiomyopathy | 39 |
| 6.4.1. Background | 39 |
| 6.4.2. Diagnostic implications of left ventricular non‐compaction genetic testing | 40 |
| 6.4.3. Prognostic and therapeutic implications | 40 |
| 6.5. Restrictive cardiomyopathy | 41 |
| 6.5.1. Background | 41 |
| 6.5.2. Diagnostic implications of restrictive cardiomyopathy genetic testing | 41 |
| 6.5.3. Prognostic and therapeutic implications | 42 |
| 7. State of genetic testing for sudden cardiac death or survivors of unexplained cardiac arrest | 42 |
| 7.1 Background | 43 |
| 8. State of genetic testing for congenital heart disease | 44 |
| 8.1. Background | 44 |
| 8.1.1. Antenatal testing | 44 |
| 8.1.2. Antenatal screening | 44 |
| 8.1.3. Neonates and infants requiring investigation or procedures for congenital heart disease | 47 |
| 8.1.4. Patients with congenital heart disease and extracardiac anomalies | 47 |
| 8.1.5. Familial forms of congenital heart disease | 47 |
| 8.1.6. Sporadic non‐syndromic congenital heart disease | 47 |
| 8.1.7. Heterotaxy | 47 |
| 9. State of genetic testing for coronary artery disease and heart failure | 48 |
| 10. Conclusion and future directions | 48 |