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

Background-Familial hiatal hernia has only rarely been documented. Aims-To describe the pattern of inheritance of familial hiatal hernia withi n an affected family. Subjects-Thirty eight members of a family pedigree across five generations. Methods-Ah 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 hi atal hernia. No individual with a hiatal hernia was born to unaffected pare nts. In one case direct male to male transmission was shown. Conclusions-Familial inheritance of hiatal hernia does occur. Evidence of d irect male to male transmission points to an autosomal dominant mode of inh eritance.