Cardiomyopathy, familial hypertrophic, 14

General Information (adopted from Orphanet):

Synonyms, Signs: CMH14
Number of Symptoms 17
OrphanetNr:
OMIM Id: 613251
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases - PMID: 15998695, 11815426, 22429680 [IBIS]
Inheritance: Autosomal dominant
Monogenic
- PMID: 15998695, 11815426 [IBIS]
Age of onset: Adult
- PMID: 15998695, 11815426 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, familial hypertrophic, 14 is caused by mutation in MYH6 (PMID:15998695, PMID:11815426, PMID:22429680).

Symptom Information: Sort by abundance 

1
(HPO:0100749) Chest pain 15998695 IBIS 92 / 7739
2
(HPO:0003115) Abnormal EKG 11815426 IBIS 44 / 7739
3
(HPO:0000822) Hypertension 11815426 IBIS 224 / 7739
4
(HPO:0011711) Left anterior fascicular block 15998695 IBIS 7 / 7739
5
(HPO:0011710) Bundle branch block 15998695 IBIS 14 / 7739
6
(HPO:0001633) Abnormality of the mitral valve 15998695 IBIS 69 / 7739
7
(HPO:0001279) Syncope 15998695 IBIS 94 / 7739
8
(HPO:0001635) Congestive heart failure 15998695 IBIS 232 / 7739
9
(HPO:0001639) Hypertrophic cardiomyopathy 11815426 IBIS 137 / 7739
10
(HPO:0001712) Left ventricular hypertrophy 11815426 IBIS 76 / 7739
11
(HPO:0003116) Abnormal echocardiogram 11815426 IBIS 33 / 7739
12
(HPO:0011675) Arrhythmia 11815426 IBIS 226 / 7739
13
(HPO:0010872) EKG: T-wave inversion 15998695 IBIS 19 / 7739
14
(HPO:0002094) Dyspnea 15998695 IBIS 132 / 7739
15
(MedDRA:10052333) Electrocardiogram ST-T segment abnormal 11815426 IBIS 5 / 7739
16
(MedDRA:10051177) Electrocardiogram Q wave abnormal 15998695 IBIS 6 / 7739
17
(OMIM) Intraventricular conduction delay 11815426 IBIS 7 / 7739

Associated genes:

MYH6;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM In a study of late-onset hypertrophic cardiomyopathy (CMH), Niimura et al. (2002) reported a 75-year-old woman in whom they identified a heterozygous mutation in the MYH6 gene (R795Q; 160710.0002). The patient, who became symptomatic at age 74 years, ...