CMH8
MCID: CRD088
MIFTS: 29

Cardiomyopathy, Familial Hypertrophic, 8 (CMH8)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 8

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 8:

Name: Cardiomyopathy, Familial Hypertrophic, 8 56 12 13 71
Familial Hypertrophic Cardiomyopathy 8 29 6
Cardiomyopathy, Hypertrophic, 8 56 29
Cmh8 56 73
Familial Hypertrophic Cardiomyopathy with Mid-Left Ventricular Chamber Type 1 73
Cardiomyopathy, Hypertrophic, Mid-Left Ventricular Chamber Type, 1 56
Cardiomyopathy Hypertrophic Mid-Left Ventricular Chamber Type 1 12
Cardiomyopathy, Hypertrophic, Familial, Type 8 39
Cardiomyopathy, Familial Hypertrophic 8 73
Hypertrophic Cardiomyopathy 8 12
Mvc1 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
early onset in some patients
sudden cardiac death in some patients
early-onset severe disease in homozygous patients


HPO:

31
cardiomyopathy, familial hypertrophic, 8:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110314
OMIM 56 608751
OMIM Phenotypic Series 56 PS192600
MeSH 43 D024741
MedGen 41 C1837471
UMLS 71 C1837471

Summaries for Cardiomyopathy, Familial Hypertrophic, 8

UniProtKB/Swiss-Prot : 73 Cardiomyopathy, familial hypertrophic 8: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. Rarely, patients present a variant of familial hypertrophic cardiomyopathy, characterized by mid-left ventricular chamber thickening.

MalaCards based summary : Cardiomyopathy, Familial Hypertrophic, 8, is also known as familial hypertrophic cardiomyopathy 8, and has symptoms including dyspnea on exertion An important gene associated with Cardiomyopathy, Familial Hypertrophic, 8 is MYL3 (Myosin Light Chain 3). Affiliated tissues include heart, skeletal muscle and testes, and related phenotypes are congestive heart failure and sudden cardiac death

Disease Ontology : 12 A familial hypertrophic cardiomyopathy that has material basis in homozygous or heterozygous mutation in the MYL3 gene.

More information from OMIM: 608751 PS192600

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 8

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 8:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 31 occasional (7.5%) HP:0001635
2 sudden cardiac death 31 HP:0001645
3 hypertrophic cardiomyopathy 31 HP:0001639
4 left ventricular hypertrophy 31 HP:0001712
5 exertional dyspnea 31 HP:0002875
6 palpitations 31 HP:0001962
7 ventricular fibrillation 31 HP:0001663
8 restrictive cardiomyopathy 31 HP:0001723
9 t-wave inversion 31 HP:0010872
10 left atrial enlargement 31 HP:0031295
11 endocardial fibrosis 31 HP:0006685

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
sudden cardiac death
cardiac arrest
palpitations
ventricular fibrillation
interstitial fibrosis
more
Cardiovascular Vascular:
congestive heart failure (in some patients)
pulmonary hypertension, mild (in some patients)

Respiratory:
exertional dyspnea
paroxysmal nocturnal dyspnea (in some patients)

Muscle Soft Tissue:
myopathic changes on skeletal muscle biopsy (in some patients)
ragged red fiber pattern on skeletal muscle biopsy (in some patients)
subsarcolemmal accumulations of cytochrome oxidase-positive mitochondria (in some patients)

Clinical features from OMIM:

608751

UMLS symptoms related to Cardiomyopathy, Familial Hypertrophic, 8:


dyspnea on exertion

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 8

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 8

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 8

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 8:

# Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 8 29 MYL3
2 Cardiomyopathy, Hypertrophic, 8 29

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 8

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 8:

40
Heart, Skeletal Muscle, Testes

Publications for Cardiomyopathy, Familial Hypertrophic, 8

Articles related to Cardiomyopathy, Familial Hypertrophic, 8:

(show all 31)
# Title Authors PMID Year
1
Gene mutations in apical hypertrophic cardiomyopathy. 56 6
16267253 2005
2
Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology. 56 6
12021217 2002
3
Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. 56 6
8673105 1996
4
Hypertrophic cardiomyopathy with ventricular septal hypertrophy localized to the apical region of the left ventricle (apical hypertrophic cardiomyopathy). 56 6
6211078 1982
5
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 6
27854360 2017
6
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
7
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 6
25173338 2014
8
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
9
Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss. 6
22241583 2012
10
Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy. 6
21823217 2011
11
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 6
21810866 2011
12
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). 6
21267010 2011
13
Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy. 6
19808356 2009
14
Hypertrophic Cardiomyopathy Overview 6
20301725 2008
15
Mutations in sarcomere protein genes in left ventricular noncompaction. 6
18506004 2008
16
Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy. 6
18258667 2008
17
Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. 6
17611253 2007
18
Molecular and muscle pathology in a series of caveolinopathy patients. 6
15580566 2005
19
Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. 6
14672715 2004
20
American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. 6
14607462 2003
21
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. 6
12767666 2003
22
Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. 6
10966831 2000
23
An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy. 6
8889580 1996
24
Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene. 6
8079988 1994
25
Report of the WHO/ISFC task force on the definition and classification of cardiomyopathies. 6
7459150 1980
26
Neuromuscular performance after rapid weight loss in Olympic-style boxers. 61
31744401 2019
27
Differences between coverage of yellow fever vaccine and the first dose of measles-containing vaccine: A desk review of global data sources. 61
31266670 2019
28
Modulation of specific inhibitory networks in fatigued locomotor muscles of healthy males. 61
29214392 2018
29
Carbohydrate Mouth Rinse Counters Fatigue Related Strength Reduction. 61
25203506 2015
30
A novel method for simultaneous analysis of three β2-agonists in foods with the use of a gold-nanoparticle modified glassy carbon electrode and chemometrics. 61
22419992 2012
31
Simultaneous determination of vitamin B12 and its derivatives using some of multivariate calibration 1 (MVC1) techniques. 61
18083612 2008

Variations for Cardiomyopathy, Familial Hypertrophic, 8

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 8:

6 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYL3 NM_000258.2(MYL3):c.445A>G (p.Met149Val)SNV Pathogenic 14061 rs104893748 3:46901001-46901001 3:46859511-46859511
2 MYL3 NM_000258.2(MYL3):c.281G>A (p.Arg94His)SNV Pathogenic/Likely pathogenic 31777 rs199474703 3:46902192-46902192 3:46860702-46860702
3 MYL3 NM_000258.2(MYL3):c.170C>G (p.Ala57Gly)SNV Conflicting interpretations of pathogenicity 31780 rs139794067 3:46902303-46902303 3:46860813-46860813
4 MYL3 NM_000258.2(MYL3):c.461G>A (p.Arg154His)SNV Conflicting interpretations of pathogenicity 14062 rs104893749 3:46900985-46900985 3:46859495-46859495
5 MYL3 NM_000258.2(MYL3):c.427G>A (p.Glu143Lys)SNV Conflicting interpretations of pathogenicity 14063 rs104893750 3:46901019-46901019 3:46859529-46859529
6 MYL3 NM_000258.2(MYL3):c.466G>T (p.Val156Leu)SNV Conflicting interpretations of pathogenicity 177841 rs199474707 3:46900980-46900980 3:46859490-46859490
7 MYL3 NM_000258.2(MYL3):c.170C>A (p.Ala57Asp)SNV Conflicting interpretations of pathogenicity 43121 rs139794067 3:46902303-46902303 3:46860813-46860813
8 MYL3 NM_000258.2(MYL3):c.481G>T (p.Gly161Cys)SNV Uncertain significance 585287 rs1356433667 3:46900965-46900965 3:46859475-46859475
9 MYL3 NM_000258.2(MYL3):c.4G>C (p.Ala2Pro)SNV Uncertain significance 164491 rs148310342 3:46904877-46904877 3:46863387-46863387
10 MYL3 NM_000258.2(MYL3):c.220G>A (p.Gly74Arg)SNV Uncertain significance 181441 rs730880956 3:46902253-46902253 3:46860763-46860763
11 MYL3 NM_000258.2(MYL3):c.307+15C>TSNV Benign/Likely benign 227621 rs184025552 3:46902151-46902151 3:46860661-46860661
12 MYL3 NM_000258.2(MYL3):c.130-14G>TSNV Benign/Likely benign 43119 rs192329378 3:46902491-46902491 3:46861001-46861001
13 MYL3 NM_000258.2(MYL3):c.69C>T (p.Pro23=)SNV Benign/Likely benign 43129 rs2233264 3:46904812-46904812 3:46863322-46863322

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 8:

73
# Symbol AA change Variation ID SNP ID
1 MYL3 p.Met149Val VAR_004599 rs104893748
2 MYL3 p.Arg154His VAR_004600 rs104893749
3 MYL3 p.Glu56Gly VAR_019842 rs199474702
4 MYL3 p.Glu143Lys VAR_019843 rs104893750
5 MYL3 p.Glu177Gly VAR_073726 rs193922391

Expression for Cardiomyopathy, Familial Hypertrophic, 8

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 8.

Pathways for Cardiomyopathy, Familial Hypertrophic, 8

GO Terms for Cardiomyopathy, Familial Hypertrophic, 8

Sources for Cardiomyopathy, Familial Hypertrophic, 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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