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.

Pierre-Robin sequence

Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.


合計: 1

                      


(表示件数)
PMID (PMCID)
16523519
MIXED_SAMPLE
Fetus with two identical reciprocal translocations: description of a rare complication of consanguinity.
Martinet D, Vial Y, Thonney F, Beckmann JS, Meagher-Villemure K, Unger S.
Am J Med Genet A. 2006;140(7):769-74.
At autopsy, the following anomalies were found: Pierre-Robin sequence, hypoplasia of the right ventricle with muscular hypertrophy, and endocardial fibroelastosis, hypoplastic lungs, dysplastic left kidney, bilateral pelvicalyceal dilatation, central nervous system periventricular heterotopias and right sided club foot.