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.

Epidemiology

The incidence at birth is estimated at 1 in 5 000.

Clinical description

In the majority of cases, endomyocardial fibroelastosis is diagnosed at between 3 and 6 months of age. The cardiac insufficiency may be acute with a severe prognosis or chronic.

Etiology

The underlying cause of the sporadic cases is unknown: it may be associated with an antenatal viral infection, subendocardial ischemia or metabolic anomalies.

Genetic counseling

The primary form is mainly sporadic but 10% of cases are familial with all possible modes of transmission (autosomal dominant, autosomal recessive, X-linked).

Management and treatment

Treatment is the same as that used for cardiac insufficiency.