Familial hypertrophic cardiomyopathy 1*del

Common Name(s)

Familial hypertrophic cardiomyopathy 1*del

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. {72:Seidman (2000)} reviewed studies of hypertrophic cardiomyopathy in man and mouse. Genetic Heterogeneity of Hypertrophic Cardiomyopathy Additional forms of hypertrophic cardiomyopathy include CMH2 ({115195}), caused by mutation in the TNNT2 gene ({191045}) on chromosome 1q32; CMH3 ({115196}), caused by mutation in the TPM1 gene ({191010}) on chromosome 15q22; CMH4 ({115197}), caused by mutation in the MYBPC3 gene ({600958}) on chromosome 11p11.2; CMH6 ({600858}), caused by mutation in the PRKAG2 gene ({602743}) on chromosome 7q36; CMH7 ({613690}), caused by mutation in the TNNI3 gene ({191044}) on chromosome 19q13.4; CMH8 ({608751}), caused by mutation in the MYL3 gene ({160790}) on chromosome 3p21; CMH9 (see {188840}), caused by mutation in the TTN gene ({188840}) on chromosome 2q31; CMH10 (see {160781}), caused by mutation in the MYL2 gene ({160781}) on chromosome 12q24; CMH11 ({612098}), caused by mutation in the ACTC1 gene ({102540}) on chromosome 15q14; CMH12 ({612124}), caused by mutation in the CSRP3 gene ({600824}) on chromosome 11p15.1; CMH13 ({613243}), caused by mutation in the TNNC1 gene ({191040}) on chromosome 3p21; CMH14 ({613251}), caused by mutation in the MYH6 gene ({160710}) on chromosome 14q12; CMH15 ({613255}), caused by mutation in the VCL gene ({193065}) on chromosome 10q22; CMH16 ({613838}), caused by mutation in the MYOZ2 gene ({605602}) on chromosome 4q26; CMH17 ({613873}), caused by mutation in the JPH2 gene ({605267}) on chromosome 20q12; CMH18 ({613874}), caused by mutation in the PLN gene ({172405}) on chromosome 6q22.1; CMH19 ({613875}), caused by mutation in the CALR3 gene ({611414}) on chromosome 19p13; CMH20 ({613876}), caused by mutation in the NEXN gene ({613121}) on chromosome 1p31.1; CMH21, mapped to chromosome 7p12.1-q21; CMH22 (see {615248}), caused by mutation in the MYPN gene ({608517}) on chromosome 10q21; CMH23 (see {612158}), caused by mutation in the ACTN2 gene ({102573}) on chromosome 1q43; CMH24 (see {601493}), caused by mutation in the LDB3 gene ({605906}) on chromosome 10q23; and CMH25 ({607487}), caused by mutation in the TCAP gene ({604488}) on chromosome 17q12. 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; {590035}) and mitochondrial tRNA-isoleucine (MTTI; {590045}).
 

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