Table 14.2
Genes that cause cardiovascular diseases
CategoryDiseaseGeneFunctionCongenitalmalformationsAtrial septal defectNKX2-5Transcription factorHolt-Oram syndrome (holes between the atria)TBX5Transcription factorCardiomyopathyFamilial hypertrophic cardiomyopathyβmyosinMuscle contraction (forced generation)Troponin T Troponin I Cardiac myosin bindingprotein C
α tropomyosinIdiopathic dilated cardiomyopathyActinMuscle contraction (force transduction)DystrophinCardiac arrhythmiasLong QT syndromeKLVQT1Potassium channelHERG minKIdiopathic ventricular fibrillation (Brugada syndrome) SCN5ASodium channelQT-related cardiac arrhythmia with sudden deathNOS1APGene is regulator of neuronal nitric oxidesynthase, which modulates cardiac repolarizationMyocardial infarctionEarly onsetVAMP8Platelet degranulationEarly onsetHNRPUL1Encodes a ribonuclear proteinHeart failureCongestive heart failureKIF6 wild-type geneKinesin family member 6HypertensionEssential hypertensionAGTContraction of arterial smooth muscleBlood lipid disordersFamilial hypercholesterolemiaLDLRegulation of low-density lipoproteinFamilial dyslipoproteinemiasApoERegulation of plasma lipid concentrationsAtherosclerosisCoronary artery diseaseE-S128RMonitors white blood cell adhesion to thearterial wallCoronary artery inflammatory diseaseInterleukin-1 receptorantagonist (IL-1ra) geneIL-1ra is a potent natural mechanism forcontrolling IL-1, and inflammationThrombotic disordersVenous thrombosisFactor V (Leiden mutation) Procoagulant normally by activated protein CStroke© Jain PharmaBiotech