Cardiomyopathies, Primary/intrinsic

Description

endocardial fibroelastosis: Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia.

Data source
FinnGen phenocode I9_CARDMPRI
Hospital Discharge registry ICD-10: I424/I425/I423/I421/I420, ICD-9: 4250A/4254A
Cause of Death registry ICD-10: I420/I421/I423/I424/I425, ICD-9: 4250A/4254A
Level in the ICD-hierarchy 4
First defined in version DF2
Ontology
DOID 12929
GWAS catalog 0007251
MESH D004695
SNOMED CT 65457005

Key figures

Sex All Female Male
Number of individuals 1344 390 954
Unadjusted prevalence (%) 1.01 0.52 1.66
Mean age at first event (years) 60.17 59.93 60.27
Median number of events / individual 4 3 4

Clinical metrics

Sex All Female Male
Recurrence within 6 months (%) 61.24 56.67 63.1
Case fatality at 5-years (%) 11.98 10.0 12.79

Associations