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.
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.
Authors: Stephen Raverty; Judy St Leger; Dawn P Noren; Kathy Burek Huntington; David S Rotstein; Frances M D Gulland; John K B Ford; M Bradley Hanson; Dyanna M Lambourn; Jessie Huggins; Martha A Delaney; Lisa Spaven; Teri Rowles; Lynne Barre; Paul Cottrell; Graeme Ellis; Tracey Goldstein; Karen Terio; Debbie Duffield; Jim Rice; Joseph K Gaydos Journal: PLoS One Date: 2020-12-02 Impact factor: 3.240
Authors: B Asling; J Jirholt; P Hammond; M Knutsson; A Walentinsson; G Davidson; L Agreus; A Lehmann; M Lagerström-Fermer Journal: Gut Date: 2009-04-26 Impact factor: 23.059