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The symptoms of endocardial fibroelastosis begin rapidly, generally between the ages of 4 and 12 months.
Symptoms are due to the overgrowth of fibrous tissue and thickening of the lining of the hearts’ chambers (i.e., endocardium and subendocardium), especially the left ventricle.
Excessive backward flow of blood from the left ventricle, through the mitral valve and into the left atrium (mitral regurgitation) is also a common finding in children with this disorder.
Symptoms of mitral regurgitation may include heart palpitation and intolerance to exercise.
The numbered bands specify the location of the thousands of genes that are present on each chromosome.
Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.
Valves connect the atria (left and right) to their respective ventricles.
Endocardial fibroelastosis may occur for no apparent reason (sporadic) or may be inherited as an X-linked (EFE2) or autosomal recessive (EFE1) genetic trait.Males have one X and one Y chromosome and females have two X chromosomes.Each chromosome has a short arm designated “p” and a long arm designated “q”.The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy.
The risk to have a child who is a carrier like the parents is 50% with each pregnancy. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.
Other symptoms may include fatigue, failure to thrive, increased sweating, an abnormal blue skin coloration on the feet and hands (peripheral cyanosis), and/or wheezing.