Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

General Information (adopted from Orphanet):

Synonyms, Signs: CDCD1
Cardiomyopathy, dilated, with conduction defect 1
Cardiomyopathy, congestive
Cardiomyopathy, idiopathic dilated
cardiomyopathy, familial idiopathic
Number of Symptoms 21
OrphanetNr: 300751
OMIM Id: 115200

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Age of onset: Adult
26527967 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial dilated cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease


Cardiomyopathy, dilated, with conduction defect 1 is caused by mutations in LMNA (PubMed:10580070).

Symptom Information: Sort by abundance 

(HPO:0005110) Atrial fibrillation 12920062 IBIS 71 / 7739
(HPO:0003115) Abnormal EKG 26527967 IBIS 44 / 7739
(HPO:0001663) Ventricular fibrillation 26527967 IBIS 35 / 7739
(HPO:0001678) Atrioventricular block 3708775 IBIS 59 / 7739
(HPO:0006673) Reduced systolic function 24001739 IBIS 11 / 7739
(HPO:0004308) Ventricular arrhythmia 3708775 IBIS 46 / 7739
(HPO:0001645) Sudden cardiac death 26527967 IBIS 84 / 7739
(HPO:0004751) Paroxysmal ventricular tachycardia 26527967 IBIS 5 / 7739
(HPO:0001635) Congestive heart failure 3708775 IBIS 232 / 7739
(HPO:0004749) Atrial flutter 3708775 IBIS 20 / 7739
(HPO:0005162) Left ventricular failure 26527967 IBIS 18 / 7739
(HPO:0011710) Bundle branch block 26527967 IBIS 14 / 7739
(HPO:0001698) Pericardial effusion 18113470 IBIS 20 / 7739
(HPO:0001644) Dilated cardiomyopathy 10580070 IBIS 141 / 7739
(HPO:0011675) Arrhythmia 10580070 IBIS 226 / 7739
(HPO:0001907) Thromboembolism 26527967 IBIS 15 / 7739
(OMIM) Adams-Stokes attacks 5900684 IBIS 1 / 7739
(MedDRA:10049694) Left ventricular dysfunction 26527967 IBIS 10 / 7739
(OMIM) Left ventricular enlargement 9323074 IBIS 9 / 7739
(OMIM) Myocardial deposits of a nonmetachromatic, diastase-resistant, PAS-positive polysaccharide 13687796 IBIS 1 / 7739
(OMIM) Defect in suppressor lymphocyte function 6691219 IBIS 1 / 7739

Associated genes:


ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
LMNA rs111569862 likely pathogenic RCV000156608.1
LMNA rs11575937 pathogenic RCV000041318.2
LMNA rs267607554 pathogenic RCV000041382.2
LMNA rs267607573 likely pathogenic RCV000041360.2
LMNA rs267607578 likely pathogenic RCV000154177.2
LMNA rs267607593 pathogenic RCV000041369.2
LMNA rs267607594 likely pathogenic RCV000041352.2
LMNA rs267607646 pathogenic RCV000041344.2
LMNA rs28928900 pathogenic RCV000015566.25
LMNA rs28933090 pathogenic RCV000015568.25
LMNA rs28933091 pathogenic RCV000015572.26
LMNA rs28933092 pathogenic RCV000015573.26
LMNA rs28933093 pathogenic RCV000015598.26
LMNA rs386134243 likely pathogenic RCV000154175.1
LMNA rs397517886 likely pathogenic RCV000041305.2
LMNA rs397517887 likely pathogenic RCV000041306.2
LMNA rs397517888 likely pathogenic RCV000041307.2
LMNA rs397517889 likely pathogenic RCV000041308.2
LMNA rs397517893 likely pathogenic RCV000041317.2
LMNA rs397517895 likely pathogenic RCV000041321.2
LMNA rs397517904 likely pathogenic RCV000041353.2
LMNA rs397517906 likely pathogenic RCV000041361.3
LMNA rs397517907 likely pathogenic RCV000041363.2
LMNA rs397517908 likely pathogenic RCV000041364.2
LMNA rs397517909 likely pathogenic RCV000041366.2
LMNA rs397517911 likely pathogenic RCV000041375.2
LMNA rs397517915 pathogenic RCV000041381.2
LMNA rs56771886 pathogenic RCV000015581.21
LMNA rs56816490 likely pathogenic RCV000041379.2
LMNA rs56851164 likely pathogenic RCV000041383.2
LMNA rs56984562 pathogenic RCV000041325.4
LMNA rs56984562 pathogenic RCV000022641.21
LMNA rs57077886 pathogenic RCV000015599.25
LMNA rs57508089 likely pathogenic RCV000041309.2
LMNA rs58013325 likely pathogenic RCV000041320.2
LMNA rs58596362 pathogenic RCV000150957.1
LMNA rs58917027 likely pathogenic RCV000041350.2
LMNA rs58978449 likely pathogenic RCV000041365.2
LMNA rs59026483 pathogenic RCV000177232.1
LMNA rs59270054 pathogenic RCV000156060.1
LMNA rs59301204 likely pathogenic RCV000041384.2
LMNA rs60682848 pathogenic RCV000056001.3
LMNA rs60890628 pathogenic RCV000015612.25
LMNA rs61046466 pathogenic RCV000041328.2
LMNA rs61195471 pathogenic RCV000055999.2
LMNA rs61295588 pathogenic RCV000056000.1
LMNA rs61672878 pathogenic RCV000015587.21
LMNA rs727504833 likely pathogenic RCV000156173.1
LMNA rs80338938 pathogenic RCV000015574.25

Additional Information:

Description: (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 ...
Clinical Description OMIM Dilated cardiomyopathy, a disorder characterized by cardiac dilation and reduced systolic function, represents an outcome of a heterogeneous group of inherited and acquired disorders. Olson and Keating (1996) noted that causes include myocarditis, coronary artery disease, systemic diseases, ...
Molecular genetics OMIM In 5 of 11 families with autosomal dominant dilated cardiomyopathy and conduction system defects, Fatkin et al. (1999) identified 5 heterozygous missense mutations in the LMNA gene (150330.0005-150330.0009). Each mutation caused heritable, progressive conduction system disease (sinus bradycardia, ...
Diagnosis GeneReviews The diagnosis of LMNA-related dilated cardiomyopathy (DCM) is established in individuals with the following:...
Clinical Description GeneReviews LMNA-related dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and reduced systolic function frequently accompanied by significant conduction system disease. LMNA-related DCM usually presents in adulthood either with conduction system disease commonly accompanied by arrhythmias or with symptomatic DCM, including heart failure or embolus from a left ventricular mural thrombus. However, LMNA-related DCM may be discovered in an asymptomatic person during a medical evaluation conducted for another reason (e.g., a routine preoperative ECG) or clinical screening of at-risk relatives....
Genotype-Phenotype Correlations GeneReviews No generalizable genotype-phenotype correlations have been established for LMNA-related DCM. ...
Differential Diagnosis GeneReviews The differential diagnosis of LMNA-related dilated cardiomyopathy (DCM) relates to the general phenotype of DCM of unknown cause. Current evidence indicates that IDC (i.e., DCM of unknown cause) may be familial (and therefore possibly genetic) in 20%-50% of cases....
Management GeneReviews Following the diagnosis of LMNA-related dilated cardiomyopathy (DCM), if not previously completed, a three- to four-generation family history should be obtained, and the following evaluations performed:...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....