X-linked fetal cardiomyopathy caused by a novel mutation in the TAZ gene

Objectives Mutations in the tafazzin (TAZ) gene at chromosomal locus Xq28 are responsible for Barth syndrome (BTHS), X‐linked endocardial fibroelastosis (EFE), X‐linked fatal infantile dilated cardiomyopathy (CMD3A), and familial isolated noncompaction of left ventricular myocardium (INVM). This evaluation was performed to determine if a known familial TAZ gene mutation might present with abnormal fetal cardiac pathology findings as early as the second trimester of pregnancy. Methods Prenatal diagnosis revealed that a male fetus was positive for a known familial arg94his TAZ gene mutation. An elective termination with subsequent fetal pathology examination was performed at 18 weeks' gestation. Results Fetal examination revealed cardiomegaly, EFE, and subendocardial vacuolization of the myocytes. Conclusion Characteristic cardiac pathology findings of a TAZ gene mutation are seen in a fetus at 18 weeks' gestation. To our knowledge, this case provides the earliest fetal pathologic description of a TAZ cardiomyopathy. Copyright © 2006 John Wiley & Sons, Ltd.