Cardiomyopathy, Dilated, 1ee

Watchlist

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

TTN, RBM20, TNNT2, SCN5A, BAG3, MYH7, MYBPC3, MYH6, DMD, PLN, DES, SGCD, TPM1, TMPO, ACTC1, PSEN1, RAF1, VCL, CSRP3, TCAP, SDHA, TAZ, TAF1A, PSEN2, TNNI3, TNNC1, FKTN, ACTN2, NEXN, MYPN

TTN, RBM20, TNNT2, SCN5A, BAG3, MYH7, MYBPC3, MYH6, DMD, PLN, DES, SGCD, TPM1, TMPO, ACTC1, PSEN1, RAF1, VCL, CSRP3, TCAP, SDHA, TAZ, TAF1A, PSEN2, TNNI3, TNNC1, FKTN, ACTN2, NEXN, MYPN, PPCS, CRYAB, PRDM16, DSG2, FHL2, ABCC9, GATAD1, ANKRD1, DOLK, LDB3, TXNRD2, NEBL, CAP2, LAMA4, LMNA, TTN-AS1, ACTB, CMD1B, LAG3, CHRM2, GATA4, TRIT1, CASZ1, ERBIN, FLNC, NKX2-5, REN, CALD1, MYLK3, MYL12B, GATA5, APP, LAMA1, LINC01672, MYEF2, GATA6, CNTN3, MEF2A, MYOG, MYLK, MYL2, MEOX1, PDLIM7, HAND2, SRA1, GJA1, PPIF, BCAP31, KCNJ12, HSP90AA1, HSPA1B, MYL12A, SOX9

Drugs

Tissue Repair Cells Obtained From Autologous Bone Marrow Expanded Ex Vivo With A Cell Production System, p38 mitogen-activated kinase inhibitor (p38 MAPK)

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A number sign (#) is used with this entry because of evidence that this form of dilated cardiomyopathy is caused by mutation in the MYH6 gene (160710).

For a general phenotypic description and discussion of genetic heterogeneity in dilated cardiomyopathy, see CMD1A (115200).

Molecular Genetics

Carniel et al. (2005) analyzed the MYH6 gene in 69 families with dilated cardiomyopathy (CMD), including 134 affected and 214 unaffected individuals, and identified 3 heterozygous missense mutations in 3 sporadic Caucasian patients (160710.0005-160710.0007, respectively). None of the 3 mutations were detected in 150 ethnically similar controls. Mutations in 7 known CMD genes were excluded in the patients in whom MYH6 mutations had been identified. Carniel et al. (2005) noted that the CMD carrier phenotype was characterized by late onset of disease, mild symptoms, and mild to moderate left ventricular dysfunction with slow progression of the disease.