Cardiomyopathy, Dilated, 1q

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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).

Clinical Features

Schonberger et al. (2005) reported a 3-generation Portuguese family in which 16 individuals had dilated cardiomyopathy (CMD). The pedigree was consistent with autosomal dominant inheritance and age-related penetrance, with age of onset between 25 and 47 years of age.

Mapping

In a 3-generation Portuguese family segregating autosomal dominant dilated cardiomyopathy, Schonberger et al. (2005) performed genomewide linkage analysis and excluded linkage to all known CMD genes and loci, whereas several close markers on chromosome 7q22.3-q31.1 segregated with the disease (maximum lod score, 4.20 at D7S471 and D7S501). Recombination events defined a 9.73-Mb disease interval between D7S2545 and D7S2554. No mutations were identified in the coding exons of 3 candidate genes, LAMB1 (150240), LAMB4 (616380), and PIK3CG (601232).