Friday, November 19, 2010

Friday Facts! Barth Syndrome

Welcome to Friday Facts! here on the Knowledge Safari blog. Each week we aim to shine the spotlight on various segments of special needs in order to raise awareness and provide information. Today we focus on Barth Syndrome.

Click here for more information from NORD.

Barth syndrome is a rare, metabolic, and neuromuscular, genetic disorder that occurs exclusively in males, since it is passed from mother to son through the X chromosome. Although Barth syndrome typically becomes apparent during infancy or early childhood, the age of onset, associated symptoms and findings, and disease course varies considerably, even among affected members of the same family (kindred). Primary characteristics of the disorder include abnormalities of heart and skeletal muscle (cardioskeletal myopathy); low levels of certain white blood cells (neutrophils, neutropenia) that help to fight bacterial infections, and growth retardation, potentially leading to short stature. The disorder is also associated with increased levels of certain organic acids in the urine and blood, such as 3-methylglutaconic aciduria/acidemia. The left ventricle of the heart may show increased thickness as a result of unusually high concentrations of elastic, collagenous fibers (endocardial fibroelastosis). The thickening reduces the ability of the left ventricle to push blood though to the lungs and thus is the prime source of potential heart failure.Barth syndrome is transmitted as an X-linked recessive trait. A gene responsible for the disorder has been located on the long arm (q) of chromosome X at Xq28.Organizations related to Barth Syndrome

American Heart Association
7272 Greenville Avenue Dallas TX 75231-4596Phone #: 214-373-6300800 #: 800-242-8721

e-mail: Review.personal.info@heart.orgHome page: http://www.americanheart.org

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