Familial fatal fetal cardiomyopathy with isolated myocardial calcifications: a new syndrome?
We describe three male sib fetuses with isolated myocardial calcifications 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 inflammation 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 calcification of the heart and IUFD are not typical of any previously described inherited cardiomyopathy, it may represent a new familial fetal cardiomyopathy.
Haug
K
K
Department of Human Genetics, University of Bonn, Bonn, Germany. k.haug@uni-bonn.de
Kohlschmidt
N
N
Dereser-Dennl
M
M
Zielinski
J
J
Merz
E
E
Schäfer
D
D
D002114:Calcinosis; D009202:Cardiomyopathies / Q000235:genetics / Q000473:pathology*; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D005313:Fetal Death; D005315:Fetal Diseases / Q000235:genetics / Q000473:pathology*; D005333:Fetus; D006801:Humans; D008297:Male; D009206:Myocardium / Q000473:pathology*; D011247:Pregnancy; D011248:Pregnancy Complications; D011262:Pregnancy Trimester, Second; D013577:Syndrome; D016216:Ultrasonography, Prenatal