Table 2.

Genes encoding myosin structural proteins associated with the developing heart

Gene	Species	Mutation/effect on gene expression	CHDs associated with mutation/developmental process	References
MYH3	Chick	Knockdown	Ab atrial and trabeculae development; enlarged heart; abnormal AP and calcium and potassium transients	[42]
MYH6	Human	I820N	ASD	[2]
		A230P	TA	[58]
		H252Q	TGA, PFO
		E501Stop	TA
		V700M	PFO
		A1366D	AS, SDK, SAR, PFO
		A1443D	ASD
		R1865Q	ASD, DIVC, VSD
		IVS37-2A > G	ASD, PTA	[59]
		R17H	ASD, AVSD, SVC/CS
		C539R	ASD
		K543R	ASD
		A1004S	ASD
	Chick	Knockdown	Ab atrial septal development	[2, 61]
			Ab trabeculae development; looping defects, EH	[61]
			Ab calcium transients in atrium	[42]
	Mouse	Homozygous	Death E11–12.5, heart phenotype ND	[60]
		Heterozygote	Viable, fertile, Ab cardiac function, fibrotic lesions, Ab sarcomeres	[60]
	Zebrafish	Weak atrium homozygous	Absent contraction, Ab myofibrillogenesis in atrium	[53]
	Xenopus	Muzak homozygous	Absent myofibrils and cardiac contraction, EH	[62]
MYH7	Human	R281T	ASD, EA	[65]
		Y283D	ASD, VSD, pulAH	[66]
		Y350N	EA
		L390P	EA, PFO
		K1459N	EA
		N1918K	Coa/BAV
		E1573K	VSD
		1220delE	EA
	Chick	Knockdown	Ab calcium transients in atrium and ventricle	[42]
			EH	UnD
	Zebrafish	Half-hearted	Enlarged ventricle, fewer myofibrils, increased cardiomyocytes	[70]
	Medaka fish	Hozuki mutant	Enlarged ventricle, increased cardiomyocytes	[71]
MYH10	Mouse	Homozygous	VSD, DORV, hypertrophic cardiac myocytes	[78]
MYH11	Human	IVS32 + 1G to T	TAAD	[82]
		R1758Q
		R1241_L1264del
		L1264P	TAAD, PDA	[83]
		R1275L
		R712Q
		R669C	PDA	[84]
		E1290Q
	Mouse	Homozygous	PDA	[85]
MYL2	Mouse	Homozygous null	Death E12.5, EH, wall thinning, Ab sarcomeres	[97]
	Chick	Knockdown	Ab cardiac looping, Ab sarcomeres	[91]
MYL4	Zebrafish	Knockdown	Ab sarcomeres with increased length, decreased contractility	[110]
MYL7	Mouse	Homozygous null	Death E10.5–11.5, EH tube, Ab looping, Ab trabeculae, left ventricular dilation, Ab myofibril assembly	[121]
	Zebrafish	Knockdown	Ab sarcomeres with decreased length and contractility, EH	[110]
		Tell tale homozygous	Ab contraction, Ab sarcomeres	[120]

Only mutations and phenotypes related to cardiac development are described; mutations and phenotypes related to cardiac function e.g., cardiomyopathy, are not listed

Ab abnormal, AP action potential, AS aortic stenosis, ASD atrial septal defect, AVSD atrioventricular septal defect, BAV bicuspid aortic valve, Coa coarctation of the aorta, DIVC dilated inferior vena cava, DORV double outlet right ventricle, E embryonic day, EA Epstein’s anomaly, EH enlarged heart, ND not determined, PDA patent ductus arteriosus, PFO persistence of foramen ovale, PTA persistent truncus arteriosus, PulAH pulmonary artery hypoplasia, SAR subaortic ridge, SDK septal dyskinesis, TA tricuspid atresia, SVC/CS abnormal drainage of superior vena cava to coronary sinus, TAAD thoracic aortic aneurysm and/or aortic dissection, TGA transposition of the great arteries, UnD unpublished data (Dr. CS Rutland and SL), VSD ventricular septal defect