/dilated cardiomyopathy 1A

dilated cardiomyopathy 1A

Rare Disease

MONDO:0007269

Also Known As

CDCD1LMNA familial isolated dilated cardiomyopathycardiomyopathy dilated with conduction defect type 1cardiomyopathy, dilated, type 1Adilated cardiomyopathy 1Adilated cardiomyopathy type 1Adilated cardiomyopathy with conduction defect 1familial dilated cardiomyopathy with conduction defect due to LMNA mutationfamilial isolated dilated cardiomyopathy caused by mutation in LMNAcardiomyopathy, congestivecardiomyopathy, dilated, 1Acardiomyopathy, dilated, with conduction defect 1cardiomyopathy, familial idiopathiccardiomyopathy, idiopathic dilated

Definition

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.