Familial fatal fetal cardiomyopathy with isolated myocardial calcifications: A new syndrome?

Citation
K. Haug et al., Familial fatal fetal cardiomyopathy with isolated myocardial calcifications: A new syndrome?, AM J MED G, 101(3), 2001, pp. 255-258
Citations number
16
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
101
Issue
3
Year of publication
2001
Pages
255 - 258
Database
ISI
SICI code
0148-7299(20010701)101:3<255:FFFCWI>2.0.ZU;2-H
Abstract
We describe three male sib fetuses with isolated myocardial calcifications resulting in intrauterine fetal death (IUFD) as early as the second trimest er, No evidence for an underlying mitochondrial cytopathy, dystrophinopathy or myopathy was found. There were no signs of inflammation or a metabolic disorder, and the mother had no prenatal exposure of teratogenic drugs, Fur thermore, no mutation in the Earth syndrome gene (G4.5) could be detected. Because isolated calcification of the heart and IUFD are not typical of any previously described inherited cardiomyopathy, it may represent a new fami lial fetal cardiomyopathy, (C) 2001 Wiley-Liss, Inc.