|
Hypertrophic familial cardiomyopathies
|
1) of muscular origin (known as sarcomeric)
Hypertrophy of the myocardial wall is due either to hypercontractility or to hypertrophy intended to compensate for the loss of the contractile function of the cardiac myosin. The penetrance of mutations is variable and depends, among other things, on age, sex and environmental factors.
|
type |
MIM |
transmission |
gene |
locus |
protein |
|
1 |
192 600 |
AD |
MYH7 |
14q11.2 |
heavy chain 7 of cardiac myosin |
|
1 |
192 600 |
Digenic AD |
MYLK3 |
20q11.21 |
lyosin light chain kinase 2 |
|
1 |
192 600 |
AD |
CAV3 |
3p25.3 |
caveolin 3 |
|
2 |
115 195 |
AD |
TNNT2 |
1q32.1 |
cardiac troponin T |
|
3 |
115 196 |
AD |
TPM1 |
15q22.2 |
tropomyosin1 |
|
4 |
115 197 |
AD |
MYBPC3 |
11p11.2 |
cardiac myosin protein binding C |
|
6 |
600 858 |
AD |
PRKAG2 |
7q36.1 |
gamma AMPK 2 |
|
7 |
613 690 |
AD |
TNNI3 |
19d13.42 |
cardiac troponin I |
|
8 |
608 751 |
AD |
MYL3 |
3p21.31 |
myosin light chain 3 |
|
9 |
613 765 |
AD |
TTN |
2q31.2 |
titin |
|
10 |
608 758 |
AD |
MYL2 |
12q24.11 |
myosin light chain 2 |
|
11 |
612 098 |
AD |
CCTA1 |
15q14 |
cardiac alpha actin |
|
12 |
612 124 |
AD |
CSRP3 |
11p15.1 |
LIM cardiac protein |
|
13 |
613 243 |
AD |
TNNC1 |
3p21.1 |
slow troponin C |
|
14 |
613 251 |
AD |
MYH6 |
14q11.2 |
myosin heavy chain 6 |
|
15 |
613 255 |
AD |
VCL |
10q22.2 |
metastavinculin |
|
16 |
613 838 |
AD |
MYOZ2 |
4q26 |
myozenin 2 |
|
17 |
613 873 |
AD |
JPH2 |
20q13.12 |
junctophilin 2 |
|
18 |
613 874 |
AD |
PLN |
6q22.31 |
phospholamban |
|
19 |
613 875 |
AD |
CALR3 |
19p13.11 |
calreticulin 3 |
|
20 |
613 876 |
AD |
NEXN |
1p31.1 |
actin binding protein
|
|
MHC bound to cardiac ankyrin repeat domain protein 1 |
|
|
|
|
|
|
22 |
615 248 |
AD |
MYPN |
10q21.3 |
myopalladin |
|
23 |
612 158 |
AD |
ACTN2 |
1q43 |
actinin alpha 2 |
|
24 |
601 493 |
AD |
LDB3 |
10q23.2 |
LIM binding domain 3 |
|
25 |
607 487 |
AD |
Tcap |
17q12 |
telethonin |
|
26 |
617 047 |
AD |
FLNC |
7q32.1 |
filamin C |
|
27 |
618 052 |
AD |
ALPK3 |
15q25.3 |
alpha kinase 3 |
1) of mitochondrial origin (nuclear genes)
|
type |
MIM |
transmission |
gene |
locus |
protein |
|
Complex deficit 1, nuclear type 11 |
618 234 |
AR |
NDUFAF1 |
15q15.1 |
Ubiquinone Assembly Factor 1 |
|
COXPD3 |
610 505 |
AR |
TSFM |
12q14.1 |
Mitochondrial elongation factor |
|
COXPD8 |
614 096 |
AR |
AARS2 |
6p21.1 |
Alanyl-tRNA synthetase 2 (mitochondrial) |
|
COXPD9 |
614 582 |
AR |
MRPL3 |
3q21.1 |
Mitochondrial ribosomal protein 3 |
|
COXPD10 |
614 702 |
AR |
MTO1 |
6q13 |
Optimizing mitochondrial tRNA translation |
|
COXPD16 |
615 395 |
AR |
MRPL44 |
2q36.1 |
Mitochondrial ribosomal protein 44 |
|
Fatal infantile cardio-encephalopathy due to cytochrome C oxidase 1 deficiency |
604 377 |
AR |
SCO2 |
22q13.33 |
Cytochrome c oxidase assembly protein |
|
Fatal infantile cardio-encephalopathy due to cytochrome C oxidase 2 deficiency |
615 119 |
AR |
COX15 |
10q24.2 |
Cytochrome c oxidase assembly factor Cox15 |
COXPD = Combined OXydative Phosphorylation Deficiency