Inheritance: Some cases are familial with X-linked recessive inheritance. Other cases are sporadic.
Implicated genetic locus: Xq28
The onset of clinical findings may be anytime from in utero to adulthood depending on severity.
Clinical features include:
(1) systolic and/or diastolic dysfunction with heart failure
(2) cardiac arrhythmias
(3) embolic events arising from an affected ventricle
The heart shows characteristic features on echocardiography.
The pathologic changes are seen primarily in the left ventricle with or without concomitant involvement of the right ventricle.
Pathologic features:
(1) deep ventricular trabeculations
(2) prominent endocardial fibroelastosis
(3) compact but relatively thin epicardium
