Genetic Disorders Associated with Cardiomyopathy

Chromosome

Gene Product

Type of CM

Clinical

1q3

troponin T

hypertrophic, dilated

sudden death or heart failure

1q21.3

lamin A/C

dilated

Emerey-Dreifuss MD, limb girdle MD 2B, sudden death

1q32

dilated

1q42

ryanodine receptor

ARV

AD

2q14-22

dilated

2q31

dilated

heart failure

2q32

ARV

AD

2q35

desmin

dilated

desmin myopathy

3p21

myosin light chain-1

hypertrophic

3p22-25

dilated

3p23

ARV

AD

5q33-34

delta-sarcoglycan

dilated

limb girdle MD 2F, sudden death or heart failure

6p23-24

desmoplakin

ARV

AR, Naxos disease

6q23

dilated

adult onset limb girdle MD

6q23-24

dilated

juvenile SNHL

7q3

AMP-activated protein

hypertrophic

9q13-22

dilated

10p12-14

ARV

AD

10q21-23

dilated

mitral valve prolapse, sudden death

11p11.2

myosin binding protein C

hypertrophic

12q23-24.3

myosin light chain-2

hypertrophic

14q11.2-12

beta myosin heavy chain

hypertrophic, dilated

sudden death or heart failure

14q12

ARV

AD

14q23

ARV

AD

15q14

actin

hypertrophic, dilated

15q22

alpha tropomyosin

hypertrophic

sudden death

17q21

plakoglobin

ARV

AR, Naxos disease

19q13.4

troponin I

hypertrophic

sudden death

Xp21

dystrophin

dilated

Becker or Duchenne MD, heart failure

Xq28

tafazzin

dilated

Barth Syndrome, endocardial fibroelasosis, heart failure

alpha-myosin heavy chain

hypertrophic

titin

hypertrophic

mitochondrial DNA

tRNA-Lys

dilated

SNHL