Congenital cytomegalovirus (cCMV) infection may significantly contribute to the course of inherited liver diseases such as Alagille syndrome (ALGS) and lead to further compromise of the liver, a study by researchers in Israel proposes. The research appeared in the August issue of the European Journal of Medical Genetics.

“We recommend screening patients with inherited liver disease for cCMV, and considering anti-viral treatment with valganciclovir to delay hepatic disease progression,” the researchers wrote.

In their report, they presented the case of 3 patients with a hereditary liver disease who also had cCMV infection. The first patient had progressive familial intrahepatic cholestasis type IV, the second had alpha 1 anti-trypsin deficiency, and the third had Alagille syndrome.

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All 3 patients were treated with valganciclovir against cCMV infection. The patients with progressive familial intrahepatic cholestasis type IV and alpha 1 anti-trypsin deficiency were also treated with suppressive dosing but still developed severe liver failure at 15 to 24 months of follow-up. The patient with Alagille syndrome had continuing cholestatic disease with stable synthetic function.

The researchers concluded that when patients who are being evaluated for neonatal cholestasis are found to have an inherited liver disease, it is crucial to screen them for cCMV infection as treatment might alter the clinical course of their disease.

“Reactivation of CMV should be suspected when these patients present with acute deterioration of liver function,” they wrote and added that more research is needed to evaluate the possible benefit of suppressive valganciclovir therapy in preventing further compromise of liver function in patients with inherited liver diseases.

ALGS is a rare inherited disease affecting many tissues and organs in the body including the liver. The first symptoms of the disease, which usually occur in the neonatal period include jaundice, xanthomas, darkening of the color of urine and lightening of the color of stools, loose, and greasy, and odorous stools.


Swed-Tobia R, Kassis I, Weiss K, et al. Concomitant congenital CMV infection and inherited liver diseases. Eur J Med Genet. 2021;64(8):104249. doi:10.1016/j.ejmg.2021.104249