Cardiomyopathy, Dilated, 1b

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

Mapping

In a single large 6-generation family with autosomal dominant dilated cardiomyopathy, Krajinovic et al. (1995) performed a genomewide search for linkage. After a large series of candidate genes were excluded, they demonstrated linkage to 9q13-q22 with a maximum multipoint lod score of 4.2 (when data from 2 other families selected on the basis of the same stringent diagnostic criteria were included). There was no evidence of heterogeneity. The FDC locus was placed in the interval between D9S153 and D9S152. Friedreich ataxia (229300), which is frequently associated with dilated cardiomyopathy, maps to the same region as does also the cAMP-dependent protein kinase (176893), which regulates calcium-channel ion conductance in the heart. Tropomodulin (190930), which maps to 9q22, was a particularly attractive candidate gene. The authors referred to the gene as FDC.