Acquired noncompaction in Barth syndrome due to the TAZ mutation c.481_482ins20

Abstract

Acquired noncompaction in Barth syndrome due to the TAZ mutation c.481_482ins20 To the Editor: We read with interest the report by Woiewodski et al 1 regarding Barth syndrome due to the mutation c.481_482ins20 in the taffazine gene, in whom left ventricular hypertrabeculation/noncompaction (LVHT) was not present at 4 months of age but present on a second echocardiogram at 10 years of age. We have the following comments and concerns. Acquired LVHT has been reported previously and described most frequently in patients with neuromuscular disorders. 2 Because LVHT may be missed on echocardiography, particularly in cases of poor image quality, severe hypertrophy, or marked dilatation, it is important to carry out cardiac magnetic resonance imaging to prove or disprove the echocardiographic findings. Cardiac magnetic resonance imaging has the advantage that it can show late gadolinium enhancement, particularly subendocardial fibrosis, frequently seen in LVHT. 3 Several explanations have been put forward to explain the development of acquired LVHT over time. 4 Because Barth syndrome is an X-linked disease in which female subjects may become manifesting carriers of the disease, it would be interesting to know whether the mother carried the mutation of the index case and whether she had developed cardiac symptoms or signs. LVHT may occur in manifesting female carriers of the TAZ mutation as well. 5 Because LVHT has been reported in up to 50% of the patients with Barth syndrome, patients with Barth syndrome should be prospectively and repeatedly investigated for cardiac involvement, in particular LVHT.