Cardiomyopathy, familial hypertrophic, 2

General Information (adopted from Orphanet):

Synonyms, Signs: CMH2
Number of Symptoms 14
OrphanetNr:
OMIM Id: 115195
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Monogenic
8205619 [IBIS]
Age of onset: All ages
8205619 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, familial hypertrophic, 2 is caused by heterozygous mutation in TNNT2 (PMID:7981753, PMID:8205619).

Symptom Information: Sort by abundance 

1
(HPO:0100749) Chest pain Frequent [IBIS] 36% (n=14) 7981753 IBIS 92 / 7739
2
(HPO:0004755) Supraventricular tachycardia 8205619 IBIS 20 / 7739
3
(HPO:0001670) Asymmetric septal hypertrophy Occasional [IBIS] 7% (n=14) 7981753 IBIS 19 / 7739
4
(HPO:0001644) Dilated cardiomyopathy 8205619 IBIS 141 / 7739
5
(HPO:0001279) Syncope Occasional [IBIS] 28% (n=14) 7981753 IBIS 94 / 7739
6
(HPO:0001712) Left ventricular hypertrophy Very frequent [IBIS] 100% (n=14) 7981753, 8205619 IBIS 76 / 7739
7
(HPO:0001639) Hypertrophic cardiomyopathy 8205619 IBIS 137 / 7739
8
(HPO:0001685) Myocardial fibrosis 18651846 IBIS 30 / 7739
9
(HPO:0003115) Abnormal EKG Very frequent [IBIS] 100% (n=14) 7981753, 8205619 IBIS 44 / 7739
10
(HPO:0003116) Abnormal echocardiogram Very frequent [IBIS] 100% (n=14) 7981753, 8205619 IBIS 33 / 7739
11
(HPO:0001723) Restrictive cardiomyopathy 8205619 IBIS 22 / 7739
12
(HPO:0002094) Dyspnea Frequent [IBIS] 71% (n=14) 7981753 IBIS 132 / 7739
13
(MedDRA:10003668) Atrial tachycardia 8205619 IBIS 3 / 7739
14
(HPO:0001699) Sudden death 9714088 IBIS 34 / 7739

Associated genes:

TNNT2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM In 3 unrelated families with familial hypertrophic cardiomyopathy linked to chromosome 1q, including the family originally reported by Watkins et al. (1993), Thierfelder et al. (1994) identified 3 different heterozygous mutations in the TNNT2 gene (191045.0001-191045.0003, respectively). ...