Many cardiovascular and connective tissue diseases have a genetic cause and are therefore familial. They are characterised by variable phenotypic manifestations and high genetic heterogeneity and complexity. Depending on the disorder in question, genetic analysis plays a role not only in the diagnosis but also the in prevention and therapy of diseases.
| A | Arrhythmia - total panel |
| Arrhythmogenic right ventricular cardiomyopathy (ARVC) | |
| B | Brugada syndrome |
| C | Catecholaminergic polymorphic ventricular tachycardia (CPVT) |
| D | Di George syndrome |
| Dilated cardiomyopathy (DCM) | |
| H | Hypertrophic cardiomyopathy (HCM) |
| L | Left ventricular noncompaction cardiomyopathy (LVNC) |
| Long QT syndrome (LQTS) | |
| M | Mitochondrial cardiomyopathy |
| N | Noonan syndrome |
| R | RASopathies |
| T | Transthyretin amyloidosis (TTR) |
| W | Williams-Beuren syndrome |
| B | Connective tissue diseases / aortic diseases - total panel |
| C | Cutis laxa |
| E | Ehlers-Danlos syndrome (EDS) |
| L | Loeys-Dietz syndrome (LDS) |
| M | Marfan syndrome |
| T | Thoracic aortic aneurysms and aortic dissections |