Cardiomyopathy, Fatal Fetal, Due To Myocardial Calcification

Clinical Features

Haug et al. (2001) described 3 male sib fetuses with isolated myocardial calcifications resulting in intrauterine fetal death as early as the second trimester. The nonconsanguineous parents also had 2 healthy daughters. Histologic examination of the 3 fetal hearts revealed distention of myocardial fibers and gross calcification in the subendocardial myocardium of both ventricles. No calcification was present in other organs, and no malformations were noted. There was no evidence for an underlying mitochondrial cytopathy, dystrophinopathy, or myopathy. There were no signs of inflammation or a metabolic disorder, and the mother had no prenatal exposure to teratogenic drugs. Noting that the only myocardial lesion apart from calcification was distention of myocardial fibers, Haug et al. (2001) proposed that this might represent a primary lesion. Specifically, no mutation in the TAZ gene (300394), which causes Barth syndrome (302060), could be detected. Haug et al. (2001) suggested that this combination of isolated calcification of the heart and intrauterine fetal death represents a distinct familial fetal cardiomyopathy.