A newborn with congenital complete atrioventricular block, lissencephaly, and skeletal abnormalities: a case of suspected cytomegalovirus infection.

We present a case of congenital complete atrioventricular block in a preterm microcephalic male with multiple additional congenital anomalies, including spinal and rib abnormalities. The heart was structurally normal, and maternal tests for autoimmune disorders were negative. The brain had an immature lissencephalic appearance, suggestive of an insult early in gestation. Genetic testing was normal, virtually excluding chromosomal disorders that are known to cause lissencephaly. Viral studies were suggestive of cytomegalovirus infection during early gestation, and we believe that the patient's clinical presentation was most likely the result of an early cytomegalovirus infection. The finding of complete atrioventricular block in a patient with presumed cytomegalovirus infection would represent a very rare complication. "Isolated" complete atrioventricular block in a fetus should be considered an incentive for an extensive work-up in search for a possible etiology, rather than accepted as a final diagnosis.

Duke Scholars

Author Dmitriy Niyazov Pediatrics, Medical Genetics