Left congenital diaphragmatic hernia, absent pericardium, and liver heterotopia: a case report and review

Patel, Yatin; McNally, Janet; Ramani, Pramila

doi:10.1016/j.jpedsurg.2007.03.033

Cited by 15 publications

(8 citation statements)

References 13 publications

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“…There are less than 400 cases of congenital absence of the pericardium reported in the literature, but it is often asymptomatic and discovered incidentally 13. Congenital absence of the pericardium, in association with CDH, has been reported several times 14 15. This is the first report, to our knowledge, of a genetic cause for this rare condition.…”

Section: Discussionmentioning

confidence: 87%

Whole exome sequencing identifies de novo mutations inGATA6associated with congenital diaphragmatic hernia

Bennett

Wynn

et al. 2014

J Med Genet

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Background Congenital diaphragmatic hernia (CDH) is a common birth defect affecting 1 in 3,000 births. It is characterized by herniation of abdominal viscera through an incompletely formed diaphragm. Although chromosomal anomalies and mutations in several genes have been implicated, the cause for most patients is unknown. Methods We used whole exome sequencing in two families with CDH and congenital heart disease, and identified mutations in GATA6 in both. Results In the first family, we identified a de novo missense mutation (c.1366C>T, p.R456C) in a sporadic CDH patient with tetralogy of Fallot. In the second, a nonsense mutation (c.712G>T, p.G238*) was identified in two siblings with CDH and a large ventricular septal defect. The G238* mutation was inherited from their mother, who was clinically affected with congenital absence of the pericardium, patent ductus arteriosus, and intestinal malrotation. Deep sequencing of blood and saliva derived DNA from the mother suggested somatic mosaicism as an explanation for her milder phenotype, with only approximately 15% mutant alleles. To determine the frequency of GATA6 mutations in CDH, we sequenced the gene in 378 patients with CDH. We identified one additional de novo mutation (c.1071delG, p.V358Cfs34*). Conclusions Mutations in GATA6 have been previously associated with pancreatic agenesis and congenital heart disease. We conclude that, in addition to the heart and the pancreas, GATA6 is involved in development of two additional organs, the diaphragm and the pericardium. In addition we have shown that de novo mutations can contribute to the development of CDH, a common birth defect.

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Section: Discussionmentioning

confidence: 87%

Whole exome sequencing identifies de novo mutations inGATA6associated with congenital diaphragmatic hernia

Bennett

Wynn

et al. 2014

J Med Genet

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“…Interestingly, in humans, CDH and pericardial aplasia were also associated with liver heterotopia in three cases [ 20 ]. These defects were hypothetically linked to a common cause represented by the initial defect of the phrenic nerve, which is involved in the embryogenesis of both structures.…”

Section: Case Presentationmentioning

confidence: 99%

“…Congenital diaphragmatic hernia with absence of the pericardium is an extremely rare combination, reported only in few cases of neonatal humans [ 20 , 21 ]. This paper presents a rare case of diaphragmatic hernia associated with pericardial aplasia in a foal.…”

Section: Introductionmentioning

confidence: 99%

Congenital diaphragmatic hernia with concurrent aplasia of the pericardium in a foal

et al. 2015

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BackgroundIn veterinary medicine congenital abnormalities of the diaphragm and pericardium are rare, idiopathic malformations, being reported mainly in dogs. This report documents an unusual case of developmental defects in a foal consisting of diaphragmatic hernia concurrent with pericardial aplasia.Case presentationFollowing a normal delivery, a full term, female Friesian stillborn foal with the placenta was presented for necropsy. External morphological examination indicated a normally developed foal. At necropsy, a large oval defect (approximately 20 × 15 cm in size) was observed in the left-dorsal side of the diaphragm (left lumbocostal triangle). This defect allowed the intestinal loops, spleen and partially the liver to translocate into the thorax. The loops of the left ascending colon, including the pelvic flexure and partially the small intestine covered the cranial and dorsal posterior parts of the heart due to the complete absence of the left pericardium. The remaining pericardium presented as a white, semi-transparent strip, partially covering the right side of the heart. The left lung and the main bronchus were severely hypoplastic to approximately one-fifth the size of their right homologue. The intermediate part of the liver, containing mainly the enlarged quadrate lobe was translocated in the thorax, severely enlarged and showed marked fibrosis. Histologically in the herniated lobes we diagnosed hepatic chronic passive congestion, telangiectasia and medial hypertrophy of blood vessels.ConclusionConcomitant malformation involving diaphragmatic hernia and pericardial aplasia in horses have not been previously reported. Moreover, this is the first case describing pericardial aplasia in horse.

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“…If there is a failure of normal growth of the post-hepatic mesenchymal plate, its cells become disorganised and can display the typical morphology of liver cells and cause liver heterotopias. 14 Hepatocytes and bile ducts, found in the very centre of diaphragmatic eventration in the female neutered cat, were possibly the consequence of a developmental anomaly or just an ectopic liver tissue (choristia) in the diaphragm.…”

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confidence: 99%

Congenital diaphragmatic eventration in two closely related British Shorthair cats

Gombač

Vrecl

Švara

2011

Journal of Feline Medicine and Surgery

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Two closely related British Shorthair cats, which died after surgery performed in the dorsal position, were presented for dissection. In both, a thin, flaccid, enlarged transparent tendinous diaphragmatic portion protruded cranially into the thoracic cavity, forming a cupola in which left, right medial and quadrate hepatic lobes were encased in both cats and the stomach in one cat. Microscopically, no muscle fibres were observed in the membrane, but numerous hepatocytes and bile ducts were incorporated in its central part. The anomaly was diagnosed as a congenital diaphragmatic eventration.

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Left congenital diaphragmatic hernia, absent pericardium, and liver heterotopia: a case report and review

Cited by 15 publications

References 13 publications

Whole exome sequencing identifies de novo mutations inGATA6associated with congenital diaphragmatic hernia

Whole exome sequencing identifies de novo mutations inGATA6associated with congenital diaphragmatic hernia

Congenital diaphragmatic hernia with concurrent aplasia of the pericardium in a foal

Congenital diaphragmatic eventration in two closely related British Shorthair cats

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