dilated cardiomyopathy 1A
http://purl.obolibrary.org/obo/MONDO_0007269
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 ]
Term info
- SCTID:766883006 (MONDO:equivalentTo)
- UMLS:C1449563 (OMIM:115200)
- Orphanet:300751 (OMIM:115200)
- GARD:0001104 (MONDO:equivalentTo)
- OMIM:115200 (Orphanet:300751/e)
- DOID:0110425 (MONDO:equivalentTo)
gard_rare, ordo_disease
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.
http://purl.obolibrary.org/obo/Orphanet_300751, http://identifiers.org/snomedct/766883006, https://omim.org/entry/115200, http://purl.obolibrary.org/obo/DOID_0110425, http://linkedlifedata.com/resource/umls/id/C1449563
LMNA familial isolated dilated cardiomyopathy, familial dilated cardiomyopathy with conduction defect due to LMNA mutation, dilated cardiomyopathy type 1A, dilated cardiomyopathy 1A, cardiomyopathy, dilated, type 1A, dilated cardiomyopathy with conduction defect 1, familial isolated dilated cardiomyopathy caused by mutation in LMNA, cardiomyopathy dilated with conduction defect type 1, CDCD1
cardiomyopathy, idiopathic dilated, cardiomyopathy, dilated, 1A, cardiomyopathy, dilated, with conduction defect 1, cardiomyopathy, congestive, cardiomyopathy, familial idiopathic
MONDO:0007269
https://rarediseases.info.nih.gov/diseases/1104/cardiomyopathy-dilated-with-conduction-defect-type-1