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

• 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