Cardiomyopathy, familial hypertrophic, 1

General Information (adopted from Orphanet):

Synonyms, Signs: ASH
Hypertrophic subaortic stenosis, idiopathic
Ventricular hypertrophy, hereditary
cmh
Asymmetric septal hypertrophy
cmh1
Number of Symptoms 15
OrphanetNr:
OMIM Id: 192600
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Multifactorial
Monogenic
Autosomal dominant
13732753, 11733062 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, familial hypertrophic, 1 is caused by mutation in MYH7 and/or MYLK2, CAV3 (PMID:7848420, PMID: 11733062, PMID:14672715).

Symptom Information: Sort by abundance 

1
(HPO:0100749) Chest pain 7848420 IBIS 92 / 7739
2
(HPO:0001279) Syncope 7848420 IBIS 94 / 7739
3
(HPO:0001639) Hypertrophic cardiomyopathy 7848420 IBIS 137 / 7739
4
(HPO:0001645) Sudden cardiac death 7789380 IBIS 84 / 7739
5
(HPO:0001962) Palpitations 7848420 IBIS 62 / 7739
6
(HPO:0003115) Abnormal EKG 7848420 IBIS 44 / 7739
7
(HPO:0001670) Asymmetric septal hypertrophy 18953637 IBIS 19 / 7739
8
(HPO:0011712) Right bundle branch block 7848420 IBIS 34 / 7739
9
(HPO:0001635) Congestive heart failure 19138847 IBIS 232 / 7739
10
(HPO:0011675) Arrhythmia 22027658 IBIS 226 / 7739
11
(HPO:0001712) Left ventricular hypertrophy 7848420 IBIS 76 / 7739
12
(HPO:0002094) Dyspnea 7848420 IBIS 132 / 7739
13
(OMIM) Myosin storage myopathy (in some patients) 19138847 IBIS 1 / 7739
14
(OMIM) Presystolic gallop 13499764 IBIS 1 / 7739
15
(OMIM) Apical hypertrophy (in some patients) 16267253 IBIS 3 / 7739

Associated genes:

MYH7;MYLK2;CAV3;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hereditary ventricular hypertrophy (CMH, HCM, ASH, or IHSS) in early stages produces a presystolic gallop due to an atrial heart sound, and EKG changes of ventricular hypertrophy. Progressive ventricular outflow obstruction may cause palpitation associated with arrhythmia, congestive ...
Clinical Description OMIM In the first demonstration of asymmetric hypertrophy of the heart in young adults, Teare (1958) reported the autopsy findings in 9 cases of sudden death in young subjects distributed in 6 families. This condition has been called muscular ...
Molecular genetics OMIM In affected members of the large French Canadian kindred originally reported by Pare et al. (1961) and shown to have linkage to markers on the proximal portion of 14q, Geisterfer-Lowrance et al. (1990) identified heterozygosity for a missense ...
Population genetics OMIM In a discussion of hypertrophic cardiomyopathy, Maron et al. (1987) stated that approximately 45% of cases are sporadic. New mutations cannot be the explanation for all of the sporadic cases; hence, there may be other etiologically distinct disorders ...