Role of genomics in cardiovascular medicine

Table 1 Summary of defects affecting the cardiovascular system and list of involved genes

	Phenotype	Involved genes	Associated diseases
Congenital heart disease
Cyanotic heart disease	Transposition of the great arteries	NKX2-5, THRAP2
	Tetralogy of fallot	NKX2-5, NOTCH1, TBX1, JAG1, NOTCH2	DiGeorge syndrome, alagille syndrome
	Tricuspid atresia	NKX2-5
	Pulmonary atresia	PTPN11, JAG1, NOTCH2	Alagille syndrome
	Ebstein’s anomaly of the tricuspid valve	NKX2-5
	Double outlet right ventricle	NKX2-5, THRAP2
	Persistent truncus arteriosus	TBX1	DiGeorge syndrome
	Anomalous pulmonary venous connection
Left-sided obstruction defects	Hypoplastic left heart syndrome	NOTCH1
	Mitral stenosis
	Aortic stenosis	NOTCH1, PTPN11
	Aortic coarctation	NOTCH1, PTPN11
	Interrupted aortic arch	TBX1	DiGeorge syndrome
Septation defects	Atrial septation defects	NKX2-5, GATA4, TBX20, MYH6, TBX5	HOS
	Ventricular septal defects	NKX2-5, GATA4, TBX20, TBX1, TBX5	HOS
	Atrioventricular septal defects	PTPN11, KRAS, SOS1, RAF1, CRELD1	Noonan syndrome
Other congenital heart defects	Bicuspid aortic valve	NOTCH1
	Patent ductus arteriosus	TFAP2B	Char syndrome
Non ischemic cardiopathies
Structural defects	CMH	MYH7, TNNT2, TPM1, MYBPC3, PRKAG2, TNNI3, MYL3, TTN, MYL2, ACTC1, CSRP3, LAMP2	CMH1, CMH2, CMH3, CMH4, CMH5, CMH6, CMH7, CMH8, CMH9, CMH10, CMH11, CMH12, Danon disease
	Dilated cardiomyopathy	ACTC, DES, SGCD, MYH7, TNNT2, TPM1, TTN, VCL, MYBPC, MLP, ACTN2, PLN, ZASP, MYH6, ABCC, TNNC1, TCAP, EYA4, LMNA, SCN5A, DMD, TAZ, TNNI3	Laminopathies, hypertension, ischemic disease
	Arrhythmogenic right ventricular dysplasia/cardiomyopathy	JUP, DSP, PKP2, DSG2, DSC2, RYR2, TGFB3	Naxos disease, Carvajal disease
Channelopathies	Long QT syndrome	SCN5A, SCN4B, KCNQ1, KCNH2, KNE1, KNE2, KCNJ2, ANK2, CAV3	Romano-Ward syndrome, Jervell Lange-Nielsen syndrome, Andersen-Tawil syndrome, Timothy syndrome
	Brugada syndrome	SCN5A, SCN1B, GPD1L, CACNA1C, CACNB2b
	Sindrome di Lev-Lenègre	SCN5A
	Short QT syndrome	KCNH2, KCNQ1, KCNJ2
	Sindrome di Wolff-Parkinson-White	AMPK
	Tachicardia ventricolare	ADRB1, ADRB2, ADRB3
	Tachicardia ventricolare polimorfica catecolaminergica	RYR2, CASQ2
	Atrial fibrillation	KCNQ1, KCNE2, KCNJ2, KCNH2
Ischemic cardiopathy
Coronary artery disease, myocardial infarction	Mendelian inheritance	LDLR, APOB, ABCG5, ABCG8, APOA1, ABCA1, CBS	Familial hypercholesterolemia
	Complex disease	9p21, SH2B3, MRPS6-SLC5A3-KCNE, PHACTR1, CELSR2-PSRC1-SORT, CXCL12, MIA3, PCSK9

CMH: Hypertrophic cardiomyopathy; HOS: Holt-Oram syndrome.