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

Prenat Diagn. 2006 May;26(5):462-5. doi: 10.1002/pd.1438.


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.

Publication types

  • Case Reports

MeSH terms

  • Acyltransferases
  • Cardiomyopathies / congenital
  • Cardiomyopathies / genetics*
  • Cardiomyopathies / pathology
  • Chromosomes, Human, X*
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Pedigree
  • Point Mutation*
  • Pregnancy
  • Prenatal Diagnosis
  • Proteins / genetics*
  • Transcription Factors / genetics*


  • Proteins
  • Transcription Factors
  • Acyltransferases
  • TAFAZZIN protein, human