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Gut. Nov 1999; 45(5): 649–652.
PMCID: PMC1727703
Familial hiatal hernia in a large five generation family confirming true autosomal dominant inheritance
I Carre, B Johnston, P Thomas, and P Morrison
Department of Child Health, The Queen's University of Belfast, Northern Ireland, UK.
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.

Keywords: familial hiatal hernia; Barrett's oesophagus; autosomal dominant genetics
Figure 1
Figure 1  
Five generation pedigree affected by infantile hiatal hernia. Individuals are shown as: affected (full shaded symbol), hiatal hernia on radiological examination; probably affected (hatched symbol), not radiologically examined; unaffected (clear symbol), (more ...)
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