1999
DOI: 10.1136/gut.45.5.649
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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 aVected 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 unaVected parents. In one case d… Show more

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Cited by 61 publications
(33 citation statements)
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“…5 Although most cases of HH are isolated, familial inheritance of HH has been shown in humans, with evidence pointing to an autosomal dominant mode of inheritance. 36 Familial inheritance has not been shown in animals but Shar-pei dogs do have a breed predisposition for the condition. 7,14,23 Shar-pei dogs also have a predisposition for poor oesophageal motility and oesophageal redundancy, although these can be incidental radiographic findings not associated with clinical signs.…”
Section: Displacement Of the Oesophagogastric Junction And Gastrooesmentioning
confidence: 95%
“…5 Although most cases of HH are isolated, familial inheritance of HH has been shown in humans, with evidence pointing to an autosomal dominant mode of inheritance. 36 Familial inheritance has not been shown in animals but Shar-pei dogs do have a breed predisposition for the condition. 7,14,23 Shar-pei dogs also have a predisposition for poor oesophageal motility and oesophageal redundancy, although these can be incidental radiographic findings not associated with clinical signs.…”
Section: Displacement Of the Oesophagogastric Junction And Gastrooesmentioning
confidence: 95%
“…[2][3][4] Increasing age (>50 years) and being overweight (body mass index >25 kg/m 2 ) are the most common risk factors for HH formation. [5][6][7][8][9] A study conducted in 2013 by Che et al found that 40% of the morbidly obese patients had a HH, 10 while subsequent studies have shown that HH prevalence is associated with obesity prevalence and increasing age. [5][6][7][8][9] A study conducted in 2013 by Che et al found that 40% of the morbidly obese patients had a HH, 10 while subsequent studies have shown that HH prevalence is associated with obesity prevalence and increasing age.…”
Section: Introductionmentioning
confidence: 99%
“…Children with this condition usually have it from birth (congenital). Some cases may have an autosomal dominant inheritance [5].…”
Section: Discussionmentioning
confidence: 99%