Familial fatal fetal cardiomyopathy with isolated myocardial calcifications: A new syndrome?
✍ Scribed by Haug, Karsten ;Kohlschmidt, Nicolai ;Dereser-Dennl, Mirjam ;Zielinski, Judith ;Merz, Eberhard ;Sch�fer, Dieter
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 550 KB
- Volume
- 101
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
We describe three male sib fetuses with isolated myocardial calci®cations resulting in intrauterine fetal death (IUFD) as early as the second trimester. No evidence for an underlying mitochondrial cytopathy, dystrophinopathy or myopathy was found. There were no signs of in¯ammation or a metabolic disorder, and the mother had no prenatal exposure of teratogenic drugs. Furthermore, no mutation in the Barth syndrome gene (G4.5) could be detected. Because isolated calci®cation of the heart and IUFD are not typical of any previously described inherited cardiomyopathy, it may represent a new familial fetal cardiomyopathy.