A 14-month-old boy was transferred because of dilated and hypertrophied left ventricle, neutropenia, and developmental delay. After checking computed tomographic angiography with contrast-dye, the patient showed acute exacerbation and finally died from multi-organ failure despite intensive cares. From genetic analysis, we revealed that the patient had Barth syndrome and found a novel hemizygous frame shift mutation in his TAZ gene, c.227delC (p.Pro76LeufsX7), which was inherited from his mother. Herein, we report a patient with Barth syndrome who had a novel mutation in TAZ gene and experienced unexpected acute exacerbation after contrast dye injection for computed tomographic angiography.
Acidosis/etiology ; Acute Disease ; Adolescent ; Barth Syndrome/diagnosis/*genetics ; Contrast Media/adverse effects/*diagnostic use ; Frameshift Mutation ; Heart Failure/etiology ; Homozygote ; Humans ; Male ; Mutation ; Pedigree ; Sequence Analysis, DNA ; Tomography, X-Ray Computed ; Transcription Factors/*genetics