25 research outputs found
Tafazzin knockdown interrupts cell cycle progression in cultured neonatal ventricular fibroblasts
X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus.
Ventricular Arrhythmia in the X-linked Cardiomyopathy Barth Syndrome
Barth syndrome is an X-linked disorder characterized by dilated cardiomyopathy, cyclic neutropenia, skeletal myopathy, abnormal mitochondria, and growth deficiency. The primary defect is a mutation in the TAZ gene on the X chromosome at Xq28, resulting in abnormal phospholipid biosynthesis and cardiolipin deficiency. To date, there has been no systematic evaluation of the cardiac phenotype. We report five cases of cardiac arrest and/or placement of an internal cardiac defibrillator with documented ventricular arrhythmia. We suggest that ventricular arrhythmia is part of the primary phenotype of the disorder and that patients should be screened accordingly.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/48106/1/246_2005_Article_873.pd