Etiology and outcome of fetuses with functional heart disease

The aim of this study was to assess the etiology and outcome of fetuses with functional heart disease as detected by echocardiography.

In total, 51 fetuses (median gestation age of 28.6 weeks) were included. The inclusion criteria were hydrops (n = 14), pericardial effusion (PE; n = 9), tricuspid valve regurgitation (TR; n = 8), hypertrophic cardiomyopathy (HCM; n = 7) and dilated cardiomyopathy (DCM; n = 7). Antenatal management was performed for 17 of 51 fetuses (33%): two abortions, nine digoxin administrations, three thoracocenteses, one pericardial puncture, one blood transfusion and one ascites centesis.

The etiology of functional heart disease was twin pregnancy in 18, fetal lung lesions in five, maternal diabetes in five, fetal anemia in four, extracardiac or chromosomal abnormalities in three, infection in three, teratoma or arteriovenous malformation in four, indomethacin administration in two, endocardial fibroelastosis in two, maternal anaphylaxia in one, idiopathic arterial calcification of infancy (IACI) in one, pregnancy-induced hypertension (PIH) in one, and unknown in two fetuses. There was no significant difference between fetuses with and without treatment (53% vs. 79%; p = 0.06). There were two stillbirths and 12 postnatal deaths (29%). Among 35 surviving infants, 85% were free of symptoms in the follow-up (mean 3.9 years).

These findings indicate that a functional heart disease in utero is associated with very varying etiology and high mortality. Improved understanding of the hemodynamic findings may lead to treatment that is more successful.