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.

Long philtrum

Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.


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PMID (PMCID)
22611642
MALE Infant
Faciocardiorenal syndrome: a wide clinical spectrum?
Brambila Tapia AJ, Vasquez Velasque AI, Gonzalez Mercado MG, Macias Chumacera A, Gutierrez-Amavizca BE, Lara Aguilar RA, Perez Juarez CR, Moreno Andrade A, Figuera LE.
Genet Couns. 2012;23(1):51-6.
We report a 7 months male patient, with the diagnosis of endocardial fibroelastosis, an abnormal facial appearance (arched eyebrows, broad nasal root, long philtrum and microretrognathia) and psychomotor delay.