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 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.

Twenty to 40 year follow up of infantile hiatal hernia.

The aim of this study was to assess clinical and radiological findings of gastro-oesophageal reflux in adults who were diagnosed as having a hiatal hernia in infancy or early childhood. One hundred and eighteen patients with a minimum age of 20 who were diagnosed as having a hiatal hernia in childhood were interviewed; barium meal examination was performed in 96 of these cases. Ninety four patients had not required surgery for their hernia. The hiatal hernia persisted in 53% of these patients and 46% experienced heartburn at least monthly but in only three was this severe. Heartburn was significantly more common in patients in whom reflux was seen on barium meal. The consumption of antacids was significantly lower (20% v 46%) in patients who responded well to treatment as children. Eighteen of 24 patients who underwent surgery as children experienced heart-burn monthly but in only one patient was this severe. Two patients underwent endoscopy at their request because of symptoms during this follow up. Both had Barrett's oesophagus. In conclusion, despite the persistence of the hiatal hernia in half of the non-surgically treated patients, few complained of significant symptoms. Effective treatment in childhood was associated with a significant reduction in antacid consumption for heartburn as adults. The finding of Barrett's oesophagus in two patients high-lights a possible role for endoscopic screening in this patient group.

Findings on barium swallow in younger siblings of children with hiatal hernia (partial thoracic stomach).

The results are presented of an investigation by barium swallow of 271 younger siblings of children with hiatal hernia (HH). The incidence of HH among younger siblings with a history of repeated vomiting and regurgitation was 41% and in those without symptoms was 4.3%.

Children with gastroesophageal reflux with or without partial thoracic stomach (hiatal hernia) have normal gastric emptying.

Gastric emptying was measured using a modification of the double-sampling dye dilution technique in 16 children with gastroesophageal reflux and partial thoracic stomach (hiatal hernia), 13 with reflux per se, and 12 controls with nonspecific vomiting. No differences could be demonstrated between the rate of emptying in these groups. Our study failed to provide a rational explanation for the copious projectile vomiting that is a frequent manifestation of these disorders.

Management of gastro-oesophageal reflux.

Parental reassurance and thickened feeds are the only requirements in the management of infants with reflux when this is the sole detectable gastro-oesophageal abnormality. In view of the strong propensity for spontaneous clinical resolution and the excellent results achieved by conservative management, infants with reflux due to a partial thoracic stomach (hiatal hernia) uncomplicated by a stricture should be treated in the first instance by postural therapy, with or without thickened feeds and supplements of antacids, domperidone, and cimetidine. Those showing no response after an adequate period of conservative treatment should have an antireflux operation. The Belsey MK IV type of fundoplication is preferred. Only an exceptional patient will require to be treated surgically before 12 months of age. The same surgical antireflux procedure, combined with oesophageal dilatations as necessary, is the treatment of choice for patients with a partial thoracic stomach complicated by a reflux oesophageal stricture. A similar treatment regimen should be followed for patients with reflux after repair of an oesophageal atresia. Surgical correction is mandatory for all infants with reflux due to a large combined hiatal hernia.

A 20-year prospective follow-up of childhood hiatal hernia.

A long-term prospective follow-up of 113 children with vomiting due to a small hiatal hernia is described. When reviewed by the same clinical and radiological observers 20 or more years later, over 90% of unoperated non-stricture patients were asymptomatic whereas only 44% of the stricture and/or surgically treated group were without symptoms. Half or possibly more of the asymptomatic patients still had a hernia and it is possible that these may suffer a recurrence of symptoms later in adult life. The loculus of thoracic stomach tended to retain the same shape; there was a slightly better prognosis for the locular type of hernia compared with the tubular type. Complicating oesophageal strictures can decrease or disappear without surgery other than dilatation; the results of treatment by radical surgery were disappointing. There is need for an even more prolonged follow-up into later adult life.

Oesophageal hiatus hernia in three generations of one family.

A family is described in which eight members in three successive generations had a sliding type of oesophageal hiatus hernia (or partial thoracic stomach) as a sole anomaly. The trait in this family behaved as a strict dominant, manifesting the segregation of a single abnormal autosomal gene. Other possible aetiologies are discussed but considered unlikely.