Cardiomyopathy, familial restrictive, 3

General Information (adopted from Orphanet):

Synonyms, Signs: RCM3
Number of Symptoms 28
OrphanetNr:
OMIM Id: 612422
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Monogenic
Autosomal dominant
18651846 [IBIS]
Age of onset: Infancy
Adult
18651846; 16651346 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, familial restrictive, 3 is caused by mutation in TNNT2 (PMID:18651846, PMID:16651346).

Symptom Information: Sort by abundance 

1
(HPO:0003546) Exercise intolerance 18651846 IBIS 62 / 7739
2
(HPO:0001712) Left ventricular hypertrophy 18651846 IBIS 76 / 7739
3
(HPO:0004755) Supraventricular tachycardia 18651846 IBIS 20 / 7739
4
(MedDRA:10014390) Electrocardiogram ST segment abnormal 18651846 IBIS 1 / 7739
5
(MedDRA:10067286) Left atrial dilatation 18651846 IBIS 10 / 7739
6
(HPO:0011712) Right bundle branch block 18651846 IBIS 34 / 7739
7
(HPO:0001678) Atrioventricular block 18651846 IBIS 59 / 7739
8
(OMIM) Right axis deviation 18651846 IBIS 6 / 7739
9
(HPO:0005110) Atrial fibrillation 18651846 IBIS 71 / 7739
10
(HPO:0001639) Hypertrophic cardiomyopathy 18651846 IBIS 137 / 7739
11
(HPO:0200048) Cyanotic episode 16651346 IBIS 1 / 7739
12
(HPO:0005168) Elevated right atrial pressure 16651346 IBIS 3 / 7739
13
(HPO:0001649) Tachycardia 16651346 IBIS 53 / 7739
14
(HPO:0002615) Hypotension 16651346 IBIS 52 / 7739
15
(HPO:0001688) Sinus bradycardia 16651346, 18651846 IBIS 18 / 7739
16
(HPO:0001723) Restrictive cardiomyopathy 18651846 IBIS 22 / 7739
17
(HPO:0005162) Left ventricular failure 16651346 IBIS 18 / 7739
18
(HPO:0012087) Abnormal mitochondrial shape 16651346 IBIS 8 / 7739
19
(MedDRA:10058597) Right ventricular dysfunction 16651346 IBIS 2 / 7739
20
(OMIM) Interstitial fibrosis 16651346 IBIS 24 / 7739
21
(MedDRA:10057501) Right atrial hypertrophy 16651346 IBIS 2 / 7739
22
(OMIM) Myocyte hypertrophy 16651346 IBIS 10 / 7739
23
(OMIM) Changes in sarcoplasmic reticulum and t-tubules 16651346 IBIS 3 / 7739
24
(MedDRA:10060088) Left ventricular end-diastolic pressure increased 16651346 IBIS 1 / 7739
25
(MedDRA:10071436) Systolic dysfunction 16651346 IBIS 13 / 7739
26
(OMIM) Left axis deviation 16651346 IBIS 7 / 7739
27
(OMIM) Atrial enlargement 16651346 IBIS 2 / 7739
28
(OMIM) Hypertrophic cardiomyocytes 16651346 IBIS 4 / 7739

Associated genes:

TNNT2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
TNNT2 rs121964855 pathogenic RCV000013219.23
TNNT2 rs727503513 likely pathogenic RCV000152104.1

Additional Information:

Clinical Description OMIM Peddy et al. (2006) described a previously healthy 12-month-old girl who suffered a cyanotic episode and on electrocardiogram was found to have marked right atrial enlargement and left axis deviation. Echocardiography revealed a structurally normal heart with severely ...
Molecular genetics OMIM In a 12-month-old girl with restrictive cardiomyopathy, Peddy et al. (2006) performed direct sequencing of the 8 genes most commonly implicated in hypertrophic cardiomyopathy and identified a 3-bp deletion in the TNNT2 gene (191045.0011). The deletion was not ...