Table 1. Hypertrophic cardiomyopathy-causing genes and associated phenotypes.

Gene	Protein	Frequencies in patients with HCM	Associated phenotype
MYH7	β-Myosin heavy chain	25%-35%	Mild or severe HCM
MYBPC3	Myosin-binding protein C (cardiac type)	20%-30%	Expression similar to MYH7, late onset
TNNT2	Troponin T (cardiac muscle)	3%-5%	Mild hypertrophy, sudden death
TNNI3	Troponin I (cardiac muscle)	<5%	Extreme intrafamilial heterogeneity, no sudden death without severe disease
TPM1	Tropomyosin 1α	<5%	Variable prognosis, sudden death
MYL2	Regulatory myosin light chain 2 (ventricular/cardiac-muscle isoform)	<5%	Skeletal myopathy
MYL3	Essential myosin light chain 3	Rare	Skeletal myopathy
ACTC	α-Cardiac actin 1	Rare	Skeletal myopathy
TTN	Titin	Rare	Typical HCM
TNNC1	Troponin C, slow skeletal and cardiac muscles	Rare	Typical HCM
MYH6	α-Myosin heavy chain	Rare	Late onset
CSRP6	Muscle LIM protein	Rare	Late onset, variable penetrance
MYLK2	Myosin light chain kinase 2	Rare	Early onset
LDB3	LIM-binding domain 3	Rare	Mainly sigmoidal HCM
TCAP	Telethonin	Rare	Typical HCM, variable penetrance
VCL	Vinculin/metavinculin	Rare	Obstructive midventricular hypertrophy
ACTN2	α-Actinin 2	Rare	Mainly sigmoidal HCM
PLN	Phospholamban	Rare	Typical HCM, variable penetrance
MYOZ2	Myozenin 2	Rare	Typical HCM
JPH2	Junctophilin 2	Rare	Typical HCM

HCM, hypertrophic cardiomyopathy. Reprinted with permission from Nature Publishing Group [5].