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.