Dilated Cardiomyopathy 1A
CMD1A

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Description from OMIM

Dilated cardiomyopathy (CMD) is characterized by cardiac dilatation and reduced systolic function. CMD is the most frequent form of cardiomyopathy and accounts for more than half of all cardiac transplantations performed in patients between 1 and 10 years of age. A heritable pattern is present in 20 to 30% of cases. Most familial CMD pedigrees show an autosomal dominant pattern of inheritance, usually presenting in the second or third decade of life (summary by Levitas et al., 2010). Genetic Heterogeneity of Dilated Cardiomyopathy Mutations in many other genes have been found to cause different forms of dilated cardiomyopathy. These include CMD1C (601493), with or without left ventricular noncompaction, caused by mutation in the LDB3 gene (605906) on 10q22-q23; CMD1D (601494), caused by mutation in the TNNT2 gene (191045) on 1q32; CMD1E (601154), caused by mutation in the SCN5A gene (600163) on 3p; CMD1G (604145), caused by mutation in the TTN gene (188840) on 2q31; CMD1I (604765), caused by mutation in the DES gene (125660) on 2q35; CMD1J (605362), caused by mutation in the EYA4 gene (603550) on 6q23-q24; CMD1L (606685), caused by mutation in the SGCD gene (601411) on 5q33; CMD1M (607482), caused by mutation in the CSRP3 gene (600824) on 11p15.1; CMD1O (608569), caused by mutation in the ABCC9 gene (601439) on 12p12.1; CMD1P (609909), caused by mutation in the PLN gene (172405) on 6q22.1; CMD1R (613424), caused by mutation in the ACTC gene (102540) on 15q14; CMD1S (613426), caused by mutation in the MYH7 gene (160760) on 14q12; CMD1U (613694), caused by mutation in the PSEN1 gene (104311) on 14q24.3; CMD1V (613697), caused by mutation in the PSEN2 gene (600759) on 1q31-q42; CMD1W (611407), caused by mutation in the gene encoding metavinculin (VCL; 193065) on 10q22-q23; CMD1X (611615), caused by mutation in the gene encoding fukutin (FKTN; 607440) on 9q31; CMD1Y (611878), caused by mutation in the TPM1 gene (191010) on 15q22.1; CMD1Z (611879), caused by mutation in the TNNC1 gene (191040) on 3p21.3-p14.3; CMD1AA (612158), caused by mutation in the ACTN2 gene (102573) on 1q42-q43; CMD1BB (612877), caused by mutation in the DSG2 gene (125671) on 18q12.1-q12.2; CMD1CC (613122), caused by mutation in the NEXN gene (613121) on 1p31.1; CMD1DD (613172), caused by mutation in the RBM20 gene (613171) on chromosome 10q25.2; CMD1EE (613252), caused by mutation in the MYH6 gene (160710) on chromosome 14q12; CMD1FF (613286), caused by mutation in the TNNI3 gene (191044) on chromosome 19q13.4; CMD1GG (613642), caused by mutation in the SDHA gene (600857) on chromosome 5p15; and CMD1HH (613881), caused by mutation in the BAG3 gene (603883) on chromosome 10q26.11; CMD1II (615184), caused by mutation in the CRYAB gene (123590) on chromosome 6q21; CMD1JJ (615235), caused by mutation in the LAMA4 gene (600133) on chromosome 6q21; CMD1KK (615248), caused by mutation in the MYPN gene (608517) on chromosome 10q21; CMD1LL (615373), caused by mutation in the PRDM16 gene (605557) on chromosome 1p36; and CMD1MM (see 615396), caused by mutation in the MYBPC3 gene (600958) on chromosome 11p11. Also see CMD2A (611880), caused by mutation in the TNNI3 gene, and CMD2B (614672), caused by mutation in the GATAD1 gene (614518). Several additional loci for familial dilated cardiomyopathy have been mapped: CMD1B (600884) on 9q13; CMD1H (604288) on 2q14-q22; CMD1K (605582) on 6q12-q16; and CMD1Q (609915) on 7q22.3-q31.1. The symbol CMD1F was formerly used for a disorder later found to be the same as desmin-related myopathy (601419). The symbol CMD1N (see 607487) was previously used for a form of dilated cardiomyopathy reported to be caused by a mutation in the TCAP gene ({604488.0003); this variant has subsequently been reclassified as a variant of unknown significance. The symbol CMD1T was previously used for a form of dilated cardiomyopathy reported to be caused by a mutation in the TMPO gene ({188380.0001); this variant has subsequently been reclassified as a variant of unknown significance. An X-linked form of CMD (CMD3B; 302045) is caused by mutation in the DMD gene (300377). An X-linked form previously designated CMD3A was found to be the same as Barth syndrome (302060).



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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Cardiac fibrosis circulatory 100 % 10580070 2014-01-28
Cardiomyopathy circulatory 100 % 10580070 2014-01-28
Cardiac arrhythmia circulatory 87 % 10580070 2014-01-28
Cardiac conduction defect circulatory 87 % 10580070 2014-01-28
Dilated cardiomyopathy circulatory 64 % 10580070 2014-01-28
Atrial fibrillation circulatory 59 % 10580070 2014-01-28
Pacemakers implanted circulatory 54 % 10580070 2014-01-28
Heart failure circulatory 33 % 10580070 2014-01-28
Sudden death circulatory 28 % 10580070 2014-01-28
Increased blood CK circulatory 8 % 10580070 2014-01-28



List of references:


Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.
D Fatkin, C MacRae, T Sasaki, M R Wolff, M Porcu, M Frenneaux, J Atherton, H J Vidaillet, S Spudich, U De Girolami, J G Seidman, C Seidman, F Muntoni, G M├╝ehle, W Johnson, B McDonough,

Inherited mutations cause approximately 35 percent of cases of dilated cardiomyopathy; however, few genes associated with this disease have been identified. Previously, we located a gene defect that was responsible for autosomal dominant dilated cardiomyopathy and conduction-system disease on chromosome 1p1-q21, where nuclear-envelope proteins lamin A and lamin C are encoded by the LMNA (lamin A/C) gene. Mutations in the head or tail domain of this gene cause Emery-Dreifuss muscular dystrophy, a childhood-onset disease characterized by joint contractures and in some cases by abnormalities of cardiac conduction during adulthood.

The New England journal of medicine - Dec 1999