Format

Send to:

Choose Destination

Dilated cardiomyopathy 1A(CMD1A)

MedGen UID:
258500
Concept ID:
C1449563
Disease or Syndrome
Synonyms: CARDIOMYOPATHY, CONGESTIVE; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; Cardiomyopathy, Familial Idiopathic; CMD1A; Dilated Cardiomyopathy; Dilated cardiomyopathy with conduction defect; Dilated Cardiomyopathy with Quadriceps Myopathy; Familial dilated cardiomyopathy with conduction defect due to LMNA mutation; Idiopathic dilated cardiomyopathy; LMNA-Related Dilated Cardiomyopathy
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Primary idiopathic dilated cardiomyopathy (53043001)
 
Gene (location): LMNA (1q22)
OMIM®: 115200
Orphanet: ORPHA300751

Definition

LMNA-related dilated cardiomyopathy (DCM) is caused by pathogenic variants in LMNA and is characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias. LMNA-related DCM usually presents in early to mid-adulthood with symptomatic conduction system disease or arrhythmias, or with symptomatic DCM including heart failure or embolus from a left ventricular mural thrombus. Sudden cardiac death can occur, and in some instances is the presenting manifestation; sudden cardiac death may occur with minimal or no systolic dysfunction. [from GTR]

Additional descriptions

From GeneReviews
LMNA-related dilated cardiomyopathy (DCM) is caused by pathogenic variants in LMNA and is characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias. LMNA-related DCM usually presents in early to mid-adulthood with symptomatic conduction system disease or arrhythmias, or with symptomatic DCM including heart failure or embolus from a left ventricular mural thrombus. Sudden cardiac death can occur, and in some instances is the presenting manifestation; sudden cardiac death may occur with minimal or no systolic dysfunction.  https://www.ncbi.nlm.nih.gov/books/NBK1674
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).  http://www.omim.org/entry/115200

Clinical features

Atrial fibrillation
MedGen UID:
445
Concept ID:
C0004238
Finding
A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC)
Atrial flutter
MedGen UID:
13955
Concept ID:
C0004239
Pathologic Function
A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate of 240-340 beats per minute. Multiple P waves typically appear in the inferior leads in a saw tooth-like pattern between the QRS complexes. (CDISC)
Primary dilated cardiomyopathy
MedGen UID:
2880
Concept ID:
C0007193
Disease or Syndrome
Nonsyndromic isolated dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and systolic dysfunction, a reduction in the myocardial force of contraction. DCM usually presents with any one of the following: Heart failure with symptoms of congestion (edema, orthopnea, paroxysmal nocturnal dyspnea) and/or reduced cardiac output (fatigue, dyspnea on exertion). Arrhythmias and/or conduction system disease. Thromboembolic disease (from left ventricular mural thrombus) including stroke.
Heart failure
MedGen UID:
6749
Concept ID:
C0018801
Disease or Syndrome
A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION.
Pericardial effusion
MedGen UID:
10653
Concept ID:
C0031039
Disease or Syndrome
Accumulation of fluid within the pericardium.
Ventricular arrhythmia
MedGen UID:
39082
Concept ID:
C0085612
Disease or Syndrome
A disorder characterized by an electrocardiographic finding of an atypical cardiac rhythm resulting from a pathologic process in the cardiac ventricles.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Dilated cardiomyopathy 1A in Orphanet.

Professional guidelines

PubMed

ACMG Board of Directors.
Genet Med 2015 Jan;17(1):68-9. Epub 2014 Nov 13 doi: 10.1038/gim.2014.151. PMID: 25356965
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics.
Genet Med 2013 Jul;15(7):565-74. Epub 2013 Jun 20 doi: 10.1038/gim.2013.73. PMID: 23788249Free PMC Article

External

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center