Pathogenic genes and clinical prognosis in hypertrophic cardiomyopathy

Table 1 Pathogenic characteristics of genes associated with common sarcomere mutations in hypertrophic cardiomyopathy

Gene	Frequency, %	Change of amino acid	Phenotype	Prognosis
MYBPC3	50	p.Glu542Gln	A delayed disease onset and a milder degree of cardiac hypertrophy	Relatively good
		p.Cys719Arg
		p.Glu334Lys
		p.Pro108lafs*9
		p.Gly1093Cys
		p.Arg668His
		p.Arg502Trp
		p.F305Pfs*27
		P.Lys1209Serfs*28
		c.2737+1(IVS26)G>T
MYH7	30-35	p.Arg453Cys	An earlier onset age, larger left ventricular hypertrophy, more severe ventricular systolic and diastolic dysfunction, and a higher risk of complications such as conduction block, atrial fibrillation, VA, end-stage heart failure and SCD	Poor
		p.Arg1045Leu
		p.Arg 719Trp
		p.Asn 391Thr
		p.Gly716Arg
		p.Arg403Gln
		p.Arg453Cys
		p.Glu848Gly
		p.Asn391Thr
		p.Thr446Pro
		p.Phe468Leu
MYL2	< 5	R58Q	Severe cardiac hypertrophy and SCD	Poor
MYL3	< 5	c.170C>A	Leading SCD	Poor
		c. 106G>T
		c.482-1G>A
MYH6	Not in detail	p.Lys364fs	Causing familial HCM, left ventricular dysfunction, and heart failure exacerbation	Poor
TNNT2	10	R92Q	Mild left ventricular wall thickness with low penetrance, a higher incidence of SCD	Poor
TNNI3	8	p.Arg21Cys	Leading to malignant HCM characterized by a remarkably high rate of early onset SCD	Poor

MYBPC3: Myosin binding protein C3; MYH: Myosin heavy chain; VA: Ventricular arrhythmia; SCD: Sudden cardiac death; MYL: Myosin light chain; HCM: Hypertrophic cardiomyopathy; TNN: Troponin.