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Male Fetal Death, Late Miscarriage and Stillbirth

Barth Syndrome may be a very under-diagnosed cause of single or recurrent fetal loss, miscarriage and stillbirth of male babies.

It has been known for some time that Barth Syndrome can cause cardiac failure as early as 18 weeks in utero. However, it was not until October 2010 that doctors from Bristol and Teesside showed conclusively that the disease can cause recurrent miscarriage or stillbirth of males. They wrote a report about Barth syndrome as an X-linked cause of fetal cardiomyopathy and stillbirth describing 6 families from England where the disease had caused 9 stillbirths and other miscarriages late in pregnancy (as well as 14 male neonatal or infant deaths) but NO losses of female pregnancies or children.

For two of the mothers described in the report, the disease led to the death of all three of the male fetuses that they carried. These babies had developed dilated cardiomyopathy (DCM) starting as early as 22 weeks gestation. This made them so sick during the second or third trimester of pregnancy that the babies developed hydrops fetalis and were miscarried, stillborn or had to be aborted. One of the boys was delivered early, after becoming distressed in the womb, but died on the third day of life. 

No animal has ever been known to have been born with Barth Syndrome. It has also proven extremely difficult to develop animal models of this disease. This suggests that the disease is very harmful to embryos and may well have been an overlooked cause of male fetal loss in humans.