Familial hiatal hernia in a large five generation family confirming true autosomal dominant inheritance

Abstract

Background - Familial hiatal hernia has only rarely been documented. Aims - To describe the pattern of inheritance of familial hiatal hernia within an affected family. Subjects - Thirty eight members of a family pedigree across five generations. Methods - All family members were interviewed and investigated by barium meal for evidence of a hiatal hernia. Results - Twenty three of 38 family members had radiological evidence of a hiatal hernia. No individual with a hiatal hernia was born to unaffected parents. In one case direct male to male transmission was shown. Conclusions - Familial inheritance of hiatal hernia does occur. Evidence of direct male to male transmission points to an autosomal dominant mode of inheritance.