Cardiomyopathy, familial hypertrophic, 8

General Information (adopted from Orphanet):

Synonyms, Signs: CMH8
Cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 1
Number of Symptoms 13
OrphanetNr:
OMIM Id: 608751
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
Autosomal dominant
Monogenic
8673105; 12021217 [IBIS]
Age of onset: All ages
8673105; 1202121 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, familial hypertrophic, 8 (CMH8) is caused by mutations in MYL3 (PMID:16267253).

Symptom Information: Sort by abundance 

1
(HPO:0011103) Abnormality of the left ventricular outflow tract 8673105 IBIS 12 / 7739
2
(HPO:0001712) Left ventricular hypertrophy Frequent [IBIS] 46% (n=13) 8673105 IBIS 76 / 7739
3
(HPO:0001635) Congestive heart failure 16267253 IBIS 232 / 7739
4
(HPO:0011535) Abnormal atrial arrangement 12021217 IBIS 2 / 7739
5
(HPO:0001723) Restrictive cardiomyopathy 12021217 IBIS 22 / 7739
6
(HPO:0001639) Hypertrophic cardiomyopathy 8673105 IBIS 137 / 7739
7
(HPO:0002092) Pulmonary hypertension 12021217 IBIS 109 / 7739
8
(HPO:0001645) Sudden cardiac death 16267253 IBIS 84 / 7739
9
(HPO:0005144) Left ventricular septal hypertrophy Frequent [IBIS] 50% (n=12) 6211078 IBIS 5 / 7739
10
(HPO:0003200) Ragged-red muscle fibers Occasional [IBIS] 23% (n=13) 8673105 IBIS 37 / 7739
11
(HPO:0003800) Muscle abnormality related to mitochondrial dysfunction Occasional [IBIS] 23% (n=13) 8673105 IBIS 3 / 7739
12
(HPO:0003756) Skeletal myopathy Occasional [IBIS] 23% (n=13) 8673105 IBIS 8 / 7739
13
(OMIM) Atrial enlargement 12021217 IBIS 2 / 7739

Associated genes:

MYL3;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Poetter et al. (1996) studied a large 3-generation family segregating autosomal dominant hypertrophic cardiomyopathy (CMH), in which 6 of 13 affected individuals had a rare variant of cardiac hypertrophy that involved mid-left ventricular chamber thickening apparent in the ...
Molecular genetics OMIM Poetter et al. (1996) analyzed the MYL3 gene (160790) in 383 unrelated probands with hypertrophic cardiomyopathy and identified a heterozygous missense mutation at a conserved residue (M149V; 160790.0001) that segregated with disease in a large 3-generation family. Linkage ...