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January 1973

Cerebral Arteriovenous Fistula With Possible Hereditary Telangiectasia

Author Affiliations

From the Division of Pediatric Cardiology, Department of Pediatrics, University of Washington School of Medicine, Seattle.

Am J Dis Child. 1973;125(1):99-101. doi:10.1001/archpedi.1973.04160010065014

A newborn infant with a family history of hereditary hemorrhagic telangiectasia (HHT) had congestive heart failure secondary to a large intracerebral arteriovenous (AV) malformation. The patient's father had had an angiomatous malformation removed from the spinal cord. Although there is no way to demonstrate conclusively that the infant is a carrier of HHT, the known occurrence of AV fistulas in the lungs of infants later demonstrated to have the disease, as well as the manifestation of smaller cerebral lesions in later life in HHT patients, suggest that the large cerebral malformation in this case was related to the strong family history of HHT. Knowledge of the possibility of such an association might speed the diagnosis and treatment of these otherwise often undetected and frequently fatal malformations.