6533b873fe1ef96bd12d4f35
RESEARCH PRODUCT
Familial fatal fetal cardiomyopathy with isolated myocardial calcifications: A new syndrome?
Eberhard MerzNicolai KohlschmidtDieter SchäferMirjam Dereser-dennlJudith ZielinskiKarsten Haugsubject
MaleMyocardial calcificationPathologymedicine.medical_specialtyHeart diseaseCardiomyopathyUltrasonography PrenatalFatal OutcomeFetusPregnancymedicineHumansMyopathyFetal DeathGenetics (clinical)Family HealthFetusbusiness.industryMyocardiumMetabolic disorderCalcinosisBarth syndromeSyndromemedicine.diseasePregnancy ComplicationsFetal DiseasesPregnancy Trimester Secondembryonic structuresFemalemedicine.symptomCardiomyopathiesbusinessCalcificationdescription
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2001-06-26 | American Journal of Medical Genetics |