J Korean Med Sci.  2013 May;28(5):784-787. 10.3346/jkms.2013.28.5.784.

A Novel Mutation of the TAZ Gene in Barth Syndrome: Acute Exacerbation after Contrast-Dye Injection

• Kim GB
• Kwon BS
• Bae EJ
• Noh CI
• Seong MW
• Park SS

• KMID: 1777570
• DOI: http://doi.org/10.3346/jkms.2013.28.5.784

Abstract

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.

Keyword

Barth Syndrome; Tafazzin Gene; Cardiomyopathy; Cardiolipin; Neutropenia

MeSH Terms

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
Contrast Media
Transcription Factors

Figure

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  Fig. 1 Chest radiograph and transthoracic echocardiogram at diagnosis. (A) Chest radiograph showing mild cardiomegaly (cardiothoracic ratio: 62.8%). (B) On echocardiography, the patient showed a dilated and hypertrophied globular left ventricle (LV) with hypertrophied papillary muscle and hyper-trabeculation (arrows).

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  Fig. 2 Vital signs after CT angiography. After undergoing CT angiography, the patient spiked a high-grade fever and developed massive diarrhea with combined metabolic acidosis.

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  Fig. 3 Results of the gene sequence (A) and pedigree analyses (B). The electropherogram (A) shows that the patient and his mother were hemizygous and heterozygous for the novel frameshift mutation, c.227delC (arrow), respectively.

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