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...

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Bibliographic Details
Published in:American journal of medical genetics 2001-07, Vol.101 (3), p.255-258
Main Authors: Haug, Karsten, Kohlschmidt, Nicolai, Dereser-Dennl, Mirjam, Zielinski, Judith, Merz, Eberhard, Schäfer, Dieter
Format: Article
Language:English
Subjects:
Biological and medical sciences
Calcinosis
Cardiology. Vascular system
Cardiomyopathies - genetics
Cardiomyopathies - pathology
Family Health
Fatal Outcome
Female
fetal cardiomyopathy
Fetal Death
Fetal Diseases - genetics
Fetal Diseases - pathology
Fetus
Heart
hereditary disease
Humans
Male
Medical sciences
myocardial calcification
Myocarditis. Cardiomyopathies
Myocardium - pathology
Pregnancy
Pregnancy Complications
Pregnancy Trimester, Second
prenatal ultrasound
Syndrome
Ultrasonography, Prenatal
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Summary: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. © 2001 Wiley‐Liss, Inc.
ISSN:0148-7299
1096-8628
DOI:10.1002/1096-8628(20010701)101:3<255::AID-AJMG1383>3.0.CO;2-D