Cardiomyopathy, Familial Hypertrophic, 1; Cmh1

Description

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 heart failure, and sudden death. Seidman (2000) reviewed studies of hypertrophic cardiomyopathy in man and mouse. Genetic Heterogeneity of Hypertrophic CardiomyopathyAdditional forms of hypertrophic cardiomyopathy include CMH2 (OMIM ), caused by mutation in the TNNT2 gene (OMIM ) on chromosome 1q32; CMH3 (OMIM ), caused by mutation in the TPM1 gene (OMIM ) on chromosome 15q22; CMH4 (OMIM ), caused by mutation in the MYBPC3 gene (OMIM ) on chromosome 11p11; CMH6 (OMIM ), caused by mutation in the PRKAG2 gene (OMIM ) on chromosome 7q36; CMH7 (OMIM ), caused by mutation in the TNNI3 gene (OMIM ) on chromosome 19q13; CMH8 (OMIM ), caused by mutation in the MYL3 gene (OMIM ) on chromosome 3p21; CMH9 (see {188840}), caused by mutation in the TTN gene (OMIM ) on chromosome 2q31; CMH10 (see {160781}), caused by mutation in the MYL2 gene (OMIM ) on chromosome 12q24; CMH11 (OMIM ), caused by mutation in the ACTC1 gene (OMIM ) on chromosome 15q14; CMH12 (OMIM ), caused by mutation in the CSRP3 gene (OMIM ) on chromosome 11p15; CMH13 (OMIM ), caused by mutation in the TNNC1 gene (OMIM ) on chromosome 3p21; CMH14 (OMIM ), caused by mutation in the MYH6 gene (OMIM ) on chromosome 14q12; CMH15 (OMIM ), caused by mutation in the VCL gene (OMIM ) on chromosome 10q22; CMH16 (OMIM ), caused by mutation in the MYOZ2 gene (OMIM ) on chromosome 4q26; CMH17 (OMIM ), caused by mutation in the JPH2 gene (OMIM ) on chromosome 20q12; CMH18 (OMIM ), caused by mutation in the PLN gene (OMIM ) on chromosome 6q22; CMH19 (OMIM ), caused by mutation in the CALR3 gene (OMIM ) on chromosome 19p13; CMH20 (OMIM ), caused by mutation in the NEXN gene (OMIM ) on chromosome 1p31.1; CMH21, mapped to chromosome 7p12.1-q21; CMH22 (see {615248}), caused by mutation in the MYPN gene (OMIM ) on chromosome 10q21; CMH23 (see {612158}), caused by mutation in the ACTN2 gene (OMIM ) on chromosome 1q43; CMH24 (see {601493}), caused by mutation in the LDB3 gene (OMIM ) on chromosome 10q23; CMH25 (OMIM ), caused by mutation in the TCAP gene (OMIM ) on chromosome 17q12; CMH26 (OMIM ), caused by mutation in the FLNC gene (OMIM ) on chromosome 7q32; and CMH27 (OMIM ), caused by mutation in the ALPK3 gene (OMIM ) on chromosome 15q25.The CMH5 designation was initially assigned to a CMH family showing genetic heterogeneity. Subsequently, affected individuals were found to carry mutations in the MYH7 (CMH1) and/or MYBPC3 (CMH4) genes.Hypertrophic cardiomyopathy has also been associated with mutation in the gene encoding cardiac myosin light-peptide kinase (MYLK2; see {606566.0001}), which resides on chromosome 20q13.3; the gene encoding caveolin-3 (CAV3; see {601253.0013}), which maps to chromosome 3p25; and with mutations in genes encoding mitochondrial tRNAs: see mitochondrial tRNA-glycine (MTTG ) and mitochondrial tRNA-isoleucine (MTTI ).

Clinical Features

Phenotypes and symptoms related to Cardiomyopathy, Familial Hypertrophic, 1; Cmh1

  • Cardiomyopathy
  • Congestive heart failure
  • Abnormality of metabolism/homeostasis
  • Arrhythmia
  • Hypertrophic cardiomyopathy
  • Ventricular hypertrophy
  • Left ventricular hypertrophy
  • Asymmetric septal hypertrophy
  • Subvalvular aortic stenosis
  • Muscular subvalvular aortic stenosis

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Cardiomyopathy, Familial Hypertrophic, 1; Cmh1 Is also known as cmh, asymmetric septal hypertrophy, hypertrophic subaortic stenosis, idiopathic, ventricular hypertrophy, hereditary, ash.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Cardiomyopathy, Familial Hypertrophic, 1; Cmh1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Distal Myopathy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

TIA1, MYOT, TTN, VCP, CAV3, LDB3, KLHL9, GNE, CRYAB, ANO5, DES, DNM2, DYSF, FLNC, MATR3, MYH7, NEB
Specificity
12 %
Genes
67 %
Congenital Myopathy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

RYR1, BIN1, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, SELENON, TRIM32, CFL2, CNTN1, MEGF10, DNM2, KLHL40, KBTBD13, MTM1, MYBPC3, MYH2, MYH7 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
34 %
Comprehensive Cardiac Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN , (...)

View the complete list with 86 more genes
Specificity
3 %
Genes
100 %
Neuromuscular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...)

View the complete list with 124 more genes
Specificity
2 %
Genes
67 %
Dilated & Arrhythmogenic Cardiomyopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RYR2, SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, MYOZ2, PRDM16, ACTC1, CASQ2, LDB3, ACTN2, NEBL , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
34 %
Hypertrophic Cardiomyopathy Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, MYOZ2, ACTC1, ACTN2, CSRP3, NEXN, DSG2, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PKP2, PLN , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
34 %
MYH7 sequencing.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States).

MYH7
Specificity
100 %
Genes
34 %
Hypertrophic cardiomyopathy - full panel.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada).

TNNC1, TNNI3, TNNT2, TPM1, TTR, MYOZ2, ACTC1, CAV3, ACTN2, CSRP3, NEXN, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2
Specificity
11 %
Genes
67 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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