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Journal of Medical Genetics 1985;22:311-313; doi:10.1136/jmg.22.4.311
Copyright © 1985 by the BMJ Publishing Group Ltd.

Familial pulmonary valve stenosis, atrial septal defect, and unique electrocardiogram abnormalities.

A A Ciuffo, E Cunningham, T A Traill

The familial association of pulmonary stenosis, atrial septal defect, and unique electrocardiographic abnormalities involving a mother and two children is reported. Familial pulmonary stenosis not occurring as part of a named syndrome or without associated multiple congenital abnormalities is rare. The constellation of pulmonary stenosis, atrial septal defect, and the particular electrocardiogram abnormalities present here is to our knowledge previously unreported. The pattern of inheritance is consistent with an autosomal dominant mode of transmission.


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