Congenital absence of the left pericardium and diaphragmatic defect in sibs

Verloes, Alain; Perrin, Laurence; Delbecque, Kathy; Gonzalès, Marie; Demarche, Martine; Dekoster, Guy

doi:10.1016/j.ejmg.2010.02.007

Cited by 8 publications

(3 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…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: 86%

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

Bennett

Wynn

et al. 2014

J Med Genet

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 86%

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

Bennett

Wynn

et al. 2014

J Med Genet

View full text Add to dashboard Cite

show abstract

“…CPD is a developmental defect that results from faulty partitioning of the pleuropericardiac cavity during the 5th week of development [3]. There were 257 surgical cases of pneumothorax in our hospital between March 2010 and December 2021, and two cases including the present case had pleural defects [4].…”

Section: Discussionmentioning

confidence: 75%

Right pneumothorax with congenital pericardial defect showed right atrium mimicking bulla in surgery

Sugiura

Hashizume

2022

surg case rep

View full text Add to dashboard Cite

Background Congenital pericardial defect (CPD) is found incidentally in cases of pneumothorax. CPD is seen in left side rather than right side and it is not generally known among thoracic surgeons how the inside of the pericardial space can be seen from the thoracic cavity in cases of pericardial defect. Case presentation A 52-year-old man with dyspnea was referred to our hospital because of the diagnosis of right pneumothorax. Chest radiography showed a right lung collapse and a pneumopericardium on the left side. Despite insertion of a chest tube, air leakage prolonged, bullectomy at the apex of the right lung was performed under thoracoscopy. During surgery, thoracoscope showed that the right atrium seemed as if it had been a non-pedunculated bulla or cardiac cyst. Heart beating, continuity with the heart, and the absence of respiratory motion could distinguish the right atrium from a bulla, and pericardial defect was confirmed. Preoperatively, the patient had no cardiac symptoms related to the CPD, and therefore, it was determined that a procedure to close the CPD was not necessary. Any complication and recurrence did not occur 6 months after surgery. Conclusions Right pneumothorax with CPD showed right atrium mimicking bulla in surgery. It is important to consider correction of CPD if there are cardiac symptoms at the onset of pneumothorax, and not to misinterpret the right atrium as a bulla.

show abstract

“…4 Pericardial defect may be associated with bronchogenic cyst or diaphragmatic hernia. 12,13,14 In the past, the diagnosis of pericardial defect was often established on chest radiography by iatrogenic induction of left pneumothorax which has become obsolete now days. Spontaneous pneumothorax, if present on left side, aid in its diagnosis.…”

Section: Fig 1: Chest X-ray Pa View Showing Prominence Of Mid Left Hementioning

confidence: 99%

Partial Pericardial Defect in an Asymptomatic Patient and Brief Review of Literature

et al. 2013

View full text Add to dashboard Cite

Congenital absence of pericardium is rare. Pericardial defects can be complete or partial. Partial pericardial defect may be symptomatic. We report a rare case of partial pericardial defect in an asymptomatic patient which was suggested by chest radiograph and confirmed by computed tomography and brief review of literature is also presented. Nepalese Journal of Radiology; Vol. 2; Issue 2; July-Dec. 2012; 65-68 DOI: http://dx.doi.org/10.3126/njr.v2i2.7688

show abstract

Congenital absence of the left pericardium and diaphragmatic defect in sibs

Cited by 8 publications

References 25 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

Right pneumothorax with congenital pericardial defect showed right atrium mimicking bulla in surgery

Partial Pericardial Defect in an Asymptomatic Patient and Brief Review of Literature

Contact Info

Product

Resources

About