Any of their children might inherit the modified gene with a 50% probability, with the males developing Barth Syndrome and the females going on to be carriers themselves. Thus, it is vitally important to take familial histories of Barth Syndrome patients in order to determine genetic risk. Ideally, any male who is matrilineally related to an individual with Barth Syndrome should be tested for TAZ mutation(s). Because the phenotype can vary widely, even among affected siblings, symptomatology (or lack thereof) by itself is insufficient for diagnosis. Diagnosis
Early diagnosis of the syndrome is complicated, but of critical importance. Clinical presentation in Barth Syndrome is highly variable, with the only common denominator being early-onset and pronounced cardiomyopathy. Diagnosis is established based upon several tests, among which can be blood tests (neutropenia, white blood cell count), urinalysis (increased urinary organic acid levels), echocardiography (cardiac ultrasound, to assess (and detect abnormalities in) the hearts structure, function and condition), and, with reasonable suspicion of Barth Syndrome, DNA sequencing (to verify TAZ gene status). Differential diagnosis
Based on symptoms at time of presentation, the differential diagnosis may include other hereditary and/or nutritional causes of (dilated) cardiomyopathy and (cyclic or idiopathic) neutropenia. Treatment
Currently, there is no treatment for Barth syndrome, although some of the symptoms can be successfully managed. Clinical trials for possible treatments are ongoing, and preliminary research into AAV9-mediated TAZ gene replacement by the University of Florida has been promising.
Tavaborole has an elimination half-life of 28.5 hours, a maximum concentration of 5.17 ng/mL after two weeks of daily use, and takes 8 days to reach the maximum concentration. Society and culture
Economics
Tavaborole began phase III clinical trials in December 2010 and was approved by the US FDA in July 2014.Originally developed by Anacor, it is now marketed in the United States by Novartis subsidiary Sandoz. Anacor was paid US$65 million and also entered into a profit sharing scheme for future sales. A 10 mL bottle of a 5% solution of tavaborole will cost the patient without insurance about $1,356. See also
Crisaborole – a structurally related topical medication used for the treatment of mild-to-moderate atopic dermatitis (eczema)

References
External links
"Tavaborole". Drug Information Portal. U.S. National Library of Medicine.