Cardiomyopathy, familial hypertrophic, 13

General Information (adopted from Orphanet):

Synonyms, Signs: CMH13
Number of Symptoms 15
OrphanetNr:
OMIM Id: 613243
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases - PMID: 22815480, 18572189 [IBIS]
Inheritance: Autosomal dominant
Monogenic
- PMID: 18572189 [IBIS]
Age of onset: Childhood
Adult
- PMID: 22815480, 18572189 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy,10430757 familial hypertrophic, 13 is caused by mutations in TNNC1 (PMID:22815480, PMID:18572189).

Symptom Information: Sort by abundance 

1
(HPO:0100749) Chest pain 18572189 IBIS 92 / 7739
2
(HPO:0003116) Abnormal echocardiogram 22815480, 18572189 IBIS 33 / 7739
3
(HPO:0001657) Prolonged QT interval 22815480 IBIS 33 / 7739
4
(HPO:0012664) Reduced ejection fraction 22815480 IBIS 32 / 7739
5
(HPO:0001279) Syncope 22815480 IBIS 94 / 7739
6
(HPO:0011103) Abnormality of the left ventricular outflow tract 18572189 IBIS 12 / 7739
7
(HPO:0001671) Abnormality of the cardiac septa 22815480 IBIS 55 / 7739
8
(HPO:0001663) Ventricular fibrillation 22815480 IBIS 35 / 7739
9
(HPO:0200128) Biventricular hypertrophy 22815480 IBIS 11 / 7739
10
(HPO:0012250) ST segment depression 22815480 IBIS 7 / 7739
11
(HPO:0001639) Hypertrophic cardiomyopathy 22815480 IBIS 137 / 7739
12
(HPO:0003115) Abnormal EKG 22815480 IBIS 44 / 7739
13
(HPO:0002094) Dyspnea 18572189 IBIS 132 / 7739
14
(MedDRA:10057576) Cardiac septal hypertrophy 22815480 IBIS 4 / 7739
15
(MedDRA:10052337) Diastolic dysfunction 22815480 IBIS 14 / 7739

Associated genes:

TNNC1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Parvatiyar et al. (2012) studied a 5-year-old boy who at 3.75 years of age survived an episode of ventricular fibrillation, then underwent implantation of an intracardioverter defibrillator (ICD) and was maintained on beta-blockers. He subsequently had 5 episodes ...
Molecular genetics OMIM In a 60-year-old German man who presented with dyspnea on exertion and was found to have concentric hypertrophic cardiomyopathy (CMH) of the left ventricle, with 15-mm thick septal and posterior walls, Hoffmann et al. (2001) identified a heterozygous ...