INTROCUCTION
After its discovery by Dr. Peter Barth in 1983, Barth Syndrome was originally thought to affect less than 200 males worldwide. Barth conducted his initial study on his patients after noticing a disturbing pattern of early infant death within a single family, none of which survived past 42 months. These individuals suffered from symptoms that included, but were not limited to, dilated cardiomyopathy, neutropenia, and skeletal myopathy. Many patients experienced moderate to severe muscle weakness and eventually succumbed to cardiac failure or died after experiencing what autopsy reports refer to as a “convulsive state.” Using the most common symptom, dilated cardiomyopathy, a phenomenon outstanding in all autopsy reports, Barth was …show more content…
In some of these cases, this may be due to gonadal mosaicism in the mother. Mosaicism is a phenomenon where more than one set of genetic information can only be found in gamete cells. In this manner, mutations not present in the parental DNA can still be passed on to their offspring. While theoretically possible, female manifestation of Barth Syndrome is highly unlikely; however, one notable case was recorded in 2012. The patient possessed deletions of exons 1-5 in the first chromosome and additional significant deletions in the second; symptoms included severe dilated cardiomyopathy and severe growth deficiencies at one month of age. While carriers of the gene do not display the mutant phenotype, these individuals have been shown to possess skewed X-inactivation, or a ratio of normal X expression to mutant X expression. In 16 carriers of the defect, 95% of cells were shown to express the normal TAZ allele. Another seven additional carriers showed lesser degrees of X-inactivation with 65-95%, while the remaining three displayed a seemingly random pattern of activation with 50-65%. These X-inactivation trends reflect the same pattern as portrayed in males with the mutation; no phenotypic and genotypic ratios can be identified without further …show more content…
Peter Barth. The first biochemical means of identifying the disorder via cardiolipin content of muscle tissue was finally approved for clinical use in 2008. As of 2016, there are few effective treatments for the disease as 70% of retrospectively diagnosed Barth syndrome die before a diagnosis is established within the family. Of the individuals that do survive, 14% require cardiac transplantation; however, the majority of affected individuals respond well to the use of beta blockers, digoxin, angiotensin converting enzyme inhibitors, and diuretics as a means of heart failure management. To avoid infection, patients with neutropenia are treated with G-CSF and prophylactic
After its discovery by Dr. Peter Barth in 1983, Barth Syndrome was originally thought to affect less than 200 males worldwide. Barth conducted his initial study on his patients after noticing a disturbing pattern of early infant death within a single family, none of which survived past 42 months. These individuals suffered from symptoms that included, but were not limited to, dilated cardiomyopathy, neutropenia, and skeletal myopathy. Many patients experienced moderate to severe muscle weakness and eventually succumbed to cardiac failure or died after experiencing what autopsy reports refer to as a “convulsive state.” Using the most common symptom, dilated cardiomyopathy, a phenomenon outstanding in all autopsy reports, Barth was …show more content…
In some of these cases, this may be due to gonadal mosaicism in the mother. Mosaicism is a phenomenon where more than one set of genetic information can only be found in gamete cells. In this manner, mutations not present in the parental DNA can still be passed on to their offspring. While theoretically possible, female manifestation of Barth Syndrome is highly unlikely; however, one notable case was recorded in 2012. The patient possessed deletions of exons 1-5 in the first chromosome and additional significant deletions in the second; symptoms included severe dilated cardiomyopathy and severe growth deficiencies at one month of age. While carriers of the gene do not display the mutant phenotype, these individuals have been shown to possess skewed X-inactivation, or a ratio of normal X expression to mutant X expression. In 16 carriers of the defect, 95% of cells were shown to express the normal TAZ allele. Another seven additional carriers showed lesser degrees of X-inactivation with 65-95%, while the remaining three displayed a seemingly random pattern of activation with 50-65%. These X-inactivation trends reflect the same pattern as portrayed in males with the mutation; no phenotypic and genotypic ratios can be identified without further …show more content…
Peter Barth. The first biochemical means of identifying the disorder via cardiolipin content of muscle tissue was finally approved for clinical use in 2008. As of 2016, there are few effective treatments for the disease as 70% of retrospectively diagnosed Barth syndrome die before a diagnosis is established within the family. Of the individuals that do survive, 14% require cardiac transplantation; however, the majority of affected individuals respond well to the use of beta blockers, digoxin, angiotensin converting enzyme inhibitors, and diuretics as a means of heart failure management. To avoid infection, patients with neutropenia are treated with G-CSF and prophylactic