Cardiomyopathy, familial restrictive, 1

General Information (adopted from Orphanet):

Synonyms, Signs: RCM1
RCM
Number of Symptoms 31
OrphanetNr:
OMIM Id: 115210
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Monogenic
Autosomal dominant
26440512 [IBIS]
Age of onset: All ages
26440512 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial isolated restrictive cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease

Comment:

Cardiomyopathy, familial restrictive, 1 is caused by mutation in TNNI3 (PMID:26440512).

Symptom Information: Sort by abundance 

1
(HPO:0011025) Abnormality of cardiovascular system physiology 11166616 IBIS 41 / 7739
2
(HPO:0005120) Abnormality of cardiac atrium Occasional [IBIS] 21% (n=14) 11166616 IBIS 5 / 7739
3
(HPO:0001640) Cardiomegaly 11166616 IBIS 81 / 7739
4
(HPO:0001279) Syncope 11166616 IBIS 94 / 7739
5
(HPO:0011718) Abnormality of the pulmonary veins Occasional [IBIS] 21% (n=14) 11166616 IBIS 6 / 7739
6
(HPO:0001637) Abnormality of the myocardium Rare [IBIS] 7% (n=14) 11166616 IBIS 76 / 7739
7
(HPO:0001629) Ventricular septal defect Frequent [IBIS] 43% (n=14) 11166616 IBIS 316 / 7739
8
(HPO:0001678) Atrioventricular block Rare [IBIS] 7% (n=15) 11166616 IBIS 59 / 7739
9
(HPO:0001711) Abnormality of the left ventricle Occasional [IBIS] 21% (n=14) 11166616 IBIS 22 / 7739
10
(HPO:0001706) Endocardial fibroelastosis Rare [IBIS] 9% (n=11) 11166616 IBIS 20 / 7739
11
(HPO:0006683) Abnormal ventricular filling Rare [IBIS] 21% (n=14) 11166616 IBIS 5 / 7739
12
(HPO:0001723) Restrictive cardiomyopathy 11166616 IBIS 22 / 7739
13
(HPO:0001685) Myocardial fibrosis Frequent [IBIS] 64% (n=11) 11166616 IBIS 30 / 7739
14
(HPO:0001880) Eosinophilia Occasional [IBIS] 9% (n=11) 11166616 IBIS 35 / 7739
15
(HPO:0100598) Pulmonary edema Occasional [IBIS] 14% (n=14) 11166616 IBIS 17 / 7739
16
(HPO:0012103) Abnormality of the mitochondrion Rare [IBIS] 7% (n=14) 11166616 IBIS 7 / 7739
17
(HPO:0012102) Abnormal mitochondrial number Occasional [IBIS] 18% (n=11) 11166616 IBIS 4 / 7739
18
(HPO:0001939) Abnormality of metabolism/homeostasis 11166616 IBIS 328 / 7739
19
(HPO:0002094) Dyspnea 11166616 IBIS 132 / 7739
20
(HPO:0002090) Pneumonia 11166616 IBIS 59 / 7739
21
(HPO:0003756) Skeletal myopathy Occasional [IBIS] 13% (n=15) 11166616 IBIS 8 / 7739
22
(HPO:0001324) Muscle weakness Occasional [IBIS] 20% (n=15) 11166616 IBIS 859 / 7739
23
(HPO:0003715) Myofibrillar myopathy Occasional [IBIS] 18% (n=11) 11166616 IBIS 9 / 7739
24
(MedDRA:10037368) Pulmonary congestion 11166616 IBIS 1 / 7739
25
(OMIM) Dilated left atrium 11166616 IBIS 2 / 7739
26
(OMIM) Hypertrophic cardiomyocytes 11166616 IBIS 4 / 7739
27
(MedDRA:10007586) Cardiac murmur 11166616 IBIS 2 / 7739
28
(OMIM) Diastolic dysfunction and atrial enlargement without ventricular dilatation by echocardiography 2977941 IBIS 2 / 7739
29
(HPO:0001699) Sudden death Frequent [IBIS] 33% (n=15) 2317404 IBIS 34 / 7739
30
(MedDRA:10029748) Noonan syndrome 8043339 IBIS 1 / 7739
31
(OMIM) Atrial dilation (bilateral in some patients 11166616 IBIS 3 / 7739

Associated genes:

TNNI3;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
MT-RNR1 rs267606617 pathogenic RCV000010256.5
MYH7 rs397516142 likely pathogenic RCV000157359.1
MYH7 rs397516153 pathogenic RCV000035799.3
MYH7 rs727503260 likely pathogenic RCV000151276.1
MYH7 rs730880154 likely pathogenic RCV000157347.1
TNNI3 rs104894724 pathogenic RCV000013239.22
TNNI3 rs104894728 pathogenic RCV000013236.22
TNNI3 rs104894729 pathogenic RCV000013237.22
TNNI3 rs104894730 pathogenic RCV000013238.23
TNNI3 rs121917760 pathogenic RCV000013241.22
TNNI3 rs121917761 pathogenic RCV000013242.16
TNNI3 rs727503504 likely pathogenic RCV000157530.1
TNNI3 rs730880231 pathogenic RCV000157531.1

Additional Information:

Clinical Description OMIM Aroney et al. (1988) described father and daughter with idiopathic restrictive cardiomyopathy. The hemodynamic profile was characteristic, and there was echocardiographic evidence of diastolic dysfunction and atrial enlargement without ventricular dilatation.

Kushwaha et al. (1997) reviewed ...

Molecular genetics OMIM Mogensen et al. (2003) studied a large family in which individuals were affected by either idiopathic restrictive cardiomyopathy or hypertrophic cardiomyopathy. Linkage analysis to selected sarcomeric contractile protein genes identified TNNI3 as a likely disease gene. Mutation analysis ...