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GTR Home > Conditions/Phenotypes > Primary dilated cardiomyopathy

Primary dilated cardiomyopathy

Synonyms
Dilated Cardiomyopathy

Summary

Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.\n\nIt usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family. [from MedlinePlus Genetics]

Available tests

83 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (83 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ABC37, ATFB12, CANTU, CMD1O, IDMYS, SUR2, ABCC9
    Summary: ATP binding cassette subfamily C member 9

  • Also known as: ACTC, ASD5, CMD1R, CMH11, LVNC4, ACTC1
    Summary: actin alpha cardiac muscle 1

  • Also known as: CMD1AA, CMH23, CMYO8, CMYP8, MPD6, MYOCOZ, ACTN2
    Summary: actinin alpha 2

  • Also known as: ALRP, C-193, CARP, CVARP, MCARP, bA320F15.2, ANKRD1
    Summary: ankyrin repeat domain 1

  • Also known as: BAG-3, BIS, CAIR-1, MFM6, BAG3
    Summary: BAG cochaperone 3

  • Also known as: CLP, CMD1M, CMH12, CRP3, LMO4, MLP, CSRP3
    Summary: cysteine and glycine rich protein 3

  • Also known as: CDCD3, CSM1, CSM2, LGMD1D, LGMD1E, LGMD2R, DES
    Summary: desmin

  • Also known as: CDHF5, HDGC, DSG2
    Summary: desmoglein 2

  • Also known as: CMD1J, DFNA10, EYA4
    Summary: EYA transcriptional coactivator and phosphatase 4

  • Also known as: CMD1X, FCMD, LGMD2M, LGMDR13, MDDGA4, MDDGB4, MDDGC4, FKTN
    Summary: fukutin

  • Also known as: CMD1C, CMH24, CMPD3, CYPHER, LDB3Z1, LDB3Z4, LVNC3, MFM4, ORACLE, PDLIM6, ZASP, LDB3
    Summary: LIM domain binding 3

  • Also known as: CDCD1, CDDC, CMD1A, CMT2B1, EMD2, FPL, FPLD, FPLD2, HGPS, IDC, LDP1, LFP, LGMD1B, LMN1, LMNC, LMNL1, MADA, PRO1, LMNA
    Summary: lamin A/C

  • Also known as: CMD1MM, CMH4, FHC, LVNC10, MYBP-C, cMyBP-C, MYBPC3
    Summary: myosin binding protein C3

  • Also known as: ASD3, CMD1EE, CMH14, MYHC, MYHCA, SSS3, alpha-MHC, MYH6
    Summary: myosin heavy chain 6

  • Also known as: CMH20, NELIN, NEXN
    Summary: nexilin F-actin binding protein

  • Also known as: CMD1P, CMH18, PLB, PLN
    Summary: phospholamban

  • Also known as: ACNINV3, AD3, CMD1U, FAD, PS-1, PS1, PSNL1, S182, PSEN1
    Summary: presenilin 1

  • Also known as: AD3L, AD4, CMD1V, PS2, STM2, PSEN2
    Summary: presenilin 2

  • Also known as: , RBM20
    Summary: RNA binding motif protein 20

  • Also known as: 35DAG, CMD1L, DAGD, LGMDR6, SG-delta, SGCDP, SGD, SGCD
    Summary: sarcoglycan delta

  • Also known as: BTHS, CMD3A, EFE, EFE2, G4.5, LVNCX, TAZ, Taz1, TAFAZZIN
    Summary: tafazzin, phospholipid-lysophospholipid transacylase

  • Also known as: CMD1N, CMH25, LGMD2G, LGMDR7, T-cap, TELE, telethonin, TCAP
    Summary: titin-cap

  • Also known as: CMD1T, LAP2, LEMD4, PRO0868, TP, TMPO
    Summary: thymopoietin

  • Also known as: CMD1D, CMH2, CMPD2, LVNC6, RCM3, TnTC, cTnT, TNNT2
    Summary: troponin T2, cardiac type

  • Also known as: C15orf13, CMD1Y, CMH3, HEL-S-265, HTM-alpha, LVNC9, TMSA, TPM1
    Summary: tropomyosin 1

  • Also known as: CMD1G, CMH9, CMPD4, CMYO5, CMYP5, EOMFC, HMERF, LGMD2J, LGMDR10, MYLK5, SALMY, TMD, TTN
    Summary: titin

  • Also known as: CMD1W, CMH15, HEL114, MV, MVCL, VINC, VCL
    Summary: vinculin

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