Table 1.
Genes that cause cardiovascular diseases
| Category | Disease | Gene | Function |
|---|---|---|---|
| Congenital malformations | Atrial septal defect Holt-Oram syndrome (holes between the atria) |
NKX2-5 TBX5 |
Transcription factor Transcription factor |
| Cardiomyopathy | Familial hypertrophic cardiomyopathy | β-Myosin Troponin T Troponin I Cardiac myosin-binding protein C α-Tropomyosin |
Muscle contraction (forced generation) |
| Idiopathic dilated cardiomyopathy | Actin Dystrophin |
Muscle contraction (force transduction) | |
| Cardiac arrhythmias | Long-QT syndrome | KLVQT1 HERG minK |
Potassium channel |
| Idiopathic ventricular fibrillation (Brugada syndrome) | SCN5A | Sodium channel | |
| QT-related cardiac arrhythmia with sudden death | NOS1AP | The gene is the regulator of neuronal nitric oxide synthase, which modulates cardiac repolarization | |
| Myocardial infarction | Early onset Early onset |
VAMP8 HNRPUL1 |
Platelet degranulation Encodes a ribonuclear protein |
| Heart failure | Congestive heart failure | KIF6 wild-type gene | Kinesin family member 6 |
| Hypertension | Essential hypertension | AGT | Contraction of arterial smooth muscle |
| Blood lipid disorders | Familial hypercholesterolemia Familial dyslipoproteinemias |
LDL ApoE |
Regulation of low-density lipoprotein Regulation of plasma lipid concentrations |
| Atherosclerosis | Coronary artery disease | E-S128R | Monitors white blood cell adhesion to the arterial wall |
| Coronary artery inflammatory disease | Interleukin-1 receptor antagonist (IL-1ra) gene | IL-1ra is a potent natural mechanism for controlling IL-1 and inflammation | |
| Thrombotic disorders | Venous thrombosis Stroke |
Factor V (Leiden mutation) |
Procoagulant normally by activated protein C |