Arvelig kardiomyopati ved LMN A-mutasjon C-gen
Engelsk navn: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Definisjon
A rare familial 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.
Fra Orphanet
ORPHA: 300751
Klassifiseringsnivå: Disorder
ICD-10: I42.0