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dilated cardiomyopathy 1A

Disease Summary
Associated Targets (40)
Tbio

26

Tclin

8

Tchem

6


GARD Rare
Mondo Description 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.
Uniprot Description A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Mondo Term and Equivalent IDs
MONDO:0007269:  dilated cardiomyopathy 1A
GARD:0001104: 
Orphanet:300751: 
SCTID:766883006: 
UMLS:C1449563: