Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase. [ Orphanet:300751 ]
Synonyms: LMNA familial isolated dilated cardiomyopathy dilated cardiomyopathy type 1A familial dilated cardiomyopathy with conduction defect due to LMNA mutation dilated cardiomyopathy 1A dilated cardiomyopathy with conduction defect 1 cardiomyopathy, dilated, type 1A familial isolated dilated cardiomyopathy caused by mutation in LMNA CDCD1 cardiomyopathy dilated with conduction defect type 1
Term information
- UMLS:C1449563 (MONDO:equivalentTo)
- GARD:18615 (MONDO:GARD)
- OMIM:115200 (Orphanet:300751/e)
- Orphanet:300751 (OMIM:115200)
- DOID:0110425 (MONDO:equivalentTo)
- MEDGEN:258500 (MONDO:equivalentTo)
- SCTID:766883006 (MONDO:equivalentTo)
gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare
http://identifiers.org/snomedct/766883006
http://identifiers.org/medgen/258500
https://omim.org/entry/115200
http://www.orpha.net/ORDO/Orphanet_300751
http://purl.obolibrary.org/obo/DOID_0110425
http://linkedlifedata.com/resource/umls/id/C1449563
cardiomyopathy, idiopathic dilated
cardiomyopathy, dilated, 1A
cardiomyopathy, dilated, with conduction defect 1
cardiomyopathy, congestive
cardiomyopathy, familial idiopathic
https://rarediseases.info.nih.gov/diseases/1104/cardiomyopathy-dilated-with-conduction-defect-type-1