Congenital Diaphragmatic Herniation Research Articles

Epidemiology and Outcome of Major Congenital Malformations in a Large German County.

Congenital malformations are associated with substantial neonatal morbidity and mortality. Furthermore, only sparse data are available on the modalities of care provided to and the associated clinical outcomes in affected neonates. In this study, we focused on five malformations that require surgery during the neonatal period: duodenal stenosis and atresia (DA), gastroschisis (GA), omphalocele (OM), congenital diaphragmatic herniation (CDH), and esophageal atresia (EA). We reviewed the Hessian neonatal registry (2010-2015) to identify records including the ICD-10 (International Classification of Diseases, Tenth Edition) codes for the aforementioned diagnoses and identified 283 patients who were affected by at least one of these conditions. Multiple regression analyses were performed to further identify risk factors for mortality and extended length of hospital stay. The incidence rates per 10,000 live births and inhospital mortality rates were as follows: DA: 1.79 and 3.6%; GA: 1.79 and 1.8%; OM: 1.60 and 24%; CDH: 1.32 and 27.5%; and EA: 2.67 and 11.1%, respectively. Thirty-three percent of the patients had not been born in a perinatal center in which corrective surgeries were performed. The following risk factors were significantly associated with early mortality: trisomy 13 and 18, congenital heart defects, prematurity, and high-risk malformations (OM and CDH). The predictors of length of stay were as follows: gestational age, number of additional malformations, and treatment in the center with the highest patient volume. Epidemiology and outcome of major congenital malformations in Hesse, Germany, are comparable to previously published data. In addition, our data revealed a volume-outcome association with regard to the length of hospital stay.

A Rare Case of Bilateral Morgagni's Hernia with Intestinal Obstruction and Malrotation of the Gut in an Adult Patient with Severe Osteogenesis Imperfecta Presenting as Severe Respiratory Distress.

Osteogenesis imperfecta (OI) is associated with congenital inguinal hernia that can occur due to genetic mutation. Morgagni's hernia is a rare congenital diaphragmatic herniation and is usually diagnosed in childhood. We present a case of an 18-year-old male presenting with bilateral Morgagni's hernia with intestinal obstruction with osteogenesis imperfecta with malrotation of the gut.

Intrathoracic Kidney after Blunt Abdominal Trauma: A Case Report and Review of the Literature.

Abdominal trauma is responsible for most genitourinary injuries. The incidence of renal artery injury and intrathoracic kidney is quite low in patients who present with blunt trauma experiencing damage. There are four defined etiologies for intrathoracic kidney, which include real intrathoracic ectopic kidney, eventration of the diaphragm, congenital diaphragmatic herniation, and traumatic diaphragmatic rupture. The traumatic intrathoracic kidney is an extremely rare case. We presented intrathoracic kidney case after traumatic posterior diaphragmatic rupture.

A Novel Translational Model of Percutaneous Fetoscopic Endoluminal Tracheal Occlusion - Baboons (Papio spp.)

Introduction: Percutaneous fetoscopic endoluminal reversible tracheal occlusion (FETO) was developed to prevent the pulmonary complications of fetal congenital diaphragmatic herniation. There is an urgent need to establish the closest to human translational model of FETO in order to improve fetal outcomes and to determine new clinical approaches and applications. Material and Methods: Seven non-human primates underwent two subsequent surgeries: the first, the FETO in the experimental group (n = 3) or sham operation in the control animals (S-FETO, n = 4) at 132-142 days of gestation (dGA); the second, the reversal of occlusion or sham operation at 162 ± 5 dGA. Maternal stress axis, complete blood count, and biochemical parameters were evaluated and newborn tracheal radiography was performed. Results: The average pregnancy duration and neonatal weights in the FETO group did not differ from the animals in the S-FETO group. There was no bleeding or premature fetal membrane rupture during the procedures in any of the baboons. The maximal tracheal width was 7.02 ± 0.6 mm in the FETO versus 5.46 ± 0.6 mm in S-FETO group. Discussion: This is the very first report of a successful FETO model in non-human primates. Similarities to human tracheomegaly were for the first time documented in any model studied.

Prenatal diagnosis and fetal therapy of congenital cystic adenomatoid malformation type I of the lung: a report of five cases

We experienced five pregnancy cases with type I congenital cystic adenomatoid malformation (CCAM) of fetuses and summarized here their clinical characteristics, pregnancy outcomes, and fetal therapies. Four of five cases were prenatally diagnosed using magnetic resonance imaging (MRI) as having lung abnormality, and the remaining case was prenatally diagnosed as having congenital diaphragmatic herniation (CDH). One fetus underwent the puncture of cysts in the lung, and two fetuses received in utero thoracoshunts between cysts and the amniotic fluid cavity (thoracoamniotic shunt). One pregnancy ended in artificial termination at 17 gestational weeks, and 4 pregnancies succeeded in live births. All these 4 infants underwent surgical operations for CCAM, and 1 infant underwent an additional operation for CDH. The MRI examinations were useful to prenatally identify CCAM, and the in utero thoracoamniotic shunt appears to be beneficial in preventing lung hypoplasia in the affected fetuses.

Intrapericardial diaphragmatic hernia and atrial septal defect in adults

Congenital diaphragmatic herniation of the intestines into the pericardial cavity is an extremely uncommon condition in adults. Its association with atrial septal defect (ASD) has been reported in only 2 cases.1Shely WW Loitz RD Fox AH Wells WJ. Intrapericardial diaphragmatic hernia, atrial septal defect, and severe episodic cyanosis.Ann Thorac Surg. 1994; 57: 1651-1653Abstract Full Text PDF PubMed Scopus (7) Google Scholar, 2Stolf NAG Groppo AA Santos GG Haddad VLS Avelar Jr., SF Hernia difragmatica intrapericardica associada a communicaçao interatrial.Arq Bras Cardiol. 1991; 57: 395-397PubMed Google Scholar We recently encountered this condition in an adult patient. A 29-year old man was referred to our clinic because of dyspnea on effort, slight limitation of physical activity, and easy fatigability. On physical examination, a grade 2/6 ejection-type systolic murmur was present along the left sternal border. The second heart sound was split and fixed. A preoperative chest x-ray film showed cardiomegaly with a prominent pulmonary arterial segment and increased pulmonary vascularity. No sign of a diaphragmatic hernia was evident. Echocardiography revealed a 14-mm secundum-type ASD and reversed septal wall motion mimicking a septal aneurysm. The ASD was diagnosed by catheterization with a pulmonary/systemic flow ratio of 2:1. The patient was subjected to elective closure of the ASD via a median sternotomy. After opening the pericardium, we found that the pericardial cavity was filled by the small intestines and omentum, which protruded through a defect at the posterior pericardium. These organs were covered with a very thin, completely transparent, colorless membrane that represented the true hernia sac and could be readily distinguished through the membrane. The membrane changed to a thin muscular fibrotic structure at the base of the sac. There was a small opening (<10 mm in diameter) in the sac at the right posterior aspect of the pericardial cavity (Figure 1).On digital examination, the intrapericardial defect extended into a small slitlike hole at the anterior portion of the diaphragm. There was no sign of strangulation or ischemia of the intestines. The abdominal organs were repositioned after general anesthesia had been deepened, and the defect was closed with a polytetrafluoroethylene patch.*W. L. Gore & Associates, Inc, Flagstaff, Ariz.The patient had an uneventful recovery and has made good progress on subsequent follow-up. After the operation, the patient stated that he had had no gastrointestinal complaints, such as bloating or constipation, preoperatively, nor any history of trauma. Congenital diaphragmatic hernia is a highly lethal condition, especially in the newborn period.3Connors RH Weber TR Randolph JG. The diaphragm: developmental, traumatic, and neoplastic disorders.in: 5th ed. Glenn's thoracic and cardiovascular surgery.Vol 1. Appleton & Lange, East Norwalk (CT)1991: 532-538Google Scholar Weakness or partial or total absence of a region of the diaphragm may permit the abdominal contents to herniate into the thorax. These hernias differ from hiatal hernias only insofar as the defect in the diaphragm does not involve the hiatal orifice. The hernia wall in these lesions is most often composed only of peritoneum and pleura. Usually the stomach or small intestine and even a portion of the liver herniates as well.42nd ed. Pathologic basis of disease. WB Saunders, Philadelphia1979: 930Google Scholar Sometimes these hernias are asymptomatic and are discovered only by radiography or by the identification of the intestinal sounds within the chest. Large protrusions, particularly in infants, may lead to respiratory embarrassment or vomiting.3Connors RH Weber TR Randolph JG. The diaphragm: developmental, traumatic, and neoplastic disorders.in: 5th ed. Glenn's thoracic and cardiovascular surgery.Vol 1. Appleton & Lange, East Norwalk (CT)1991: 532-538Google Scholar Herniation in the pericardial cavity, which is extremely uncommon, has been reported to produce cardiac compression, tamponade, respiratory distress, and pericardial effusions.5De Fonseca JMB Davies MRQ Bolton KD. Congenital hypopericardium associated with the herniation of part of the liver into the pericardial sac.J Pediatr Surg. 1987; 22: 851-853Abstract Full Text PDF PubMed Scopus (34) Google Scholar There are 2 reported cases of intrapericardial congenital diaphragmatic hernia in the newborn period with an ostium secundum ASD, which resulted in severe episodic cyanosis, although there was normal pulmonary vascular resistance.1Shely WW Loitz RD Fox AH Wells WJ. Intrapericardial diaphragmatic hernia, atrial septal defect, and severe episodic cyanosis.Ann Thorac Surg. 1994; 57: 1651-1653Abstract Full Text PDF PubMed Scopus (7) Google Scholar Episodic right-to-left shunting occurred in these cases as a result of intrapericardial diaphragmatic hernial compression in the area of the tricuspid valve at the right atrioventricular groove. Our case represents an intrapericardial diaphragmatic hernia through a 1-cm defect remaining asymptomatic for many years. We could find no history of trauma or preoperative symptoms and physical findings resembling diaphragmatic hernia. The problem was not diagnosed until a cardiac operation was performed for ASD closure. The presence of the abdominal contents in the pericardium was a surprise to the surgeon.

Congenital diaphragmatic herniation: antenatal detection and outcome.

201 fetuses and babies with a congenital diaphragmatic herniation or eventration (referred to collectively as CDH) were notified to the Northern Region Congenital Abnormality Survey (NorCAS) in the 13-year period from 1985 to 1997, an incidence of 0.25 per 1000 births. The 1-year survival of all pregnancies associated with CDH was 37%. The 1-year survival of livebirths was 50%. Antenatal scan detected the diaphragmatic defect or associated structural abnormality in 50%. Another major structural abnormality was present in 62 (31%); one of these babies survived and 26 pregnancies were terminated. This group contained four of the six antepartum stillbirths, all three intrapartum stillbirths and four of the five spontaneous miscarriages. Non-isolated CDH occurred in association with Fryns (5), Goldenhar (1) and de Lange (1) syndromes, and in 16 of 17 with a chromosome anomaly. 53% of the 139 fetuses with isolated CDH survived to 1 year of age, and 59% of the 124 liveborn survived. Of 37 fetuses with isolated CDH detected before 25 weeks gestation, 12 pregnancies were terminated. There were 11 survivors among the 25 continuing pregnancies (44%). The overall survival of babies with CDH is very poor but, when a defect is identified by ultrasound before 25 weeks gestation, chromosome analysis and a careful ultrasound scan may suggest which fetuses have an isolated diaphragmatic abnormality and a greater chance of survival.

Intrapericardial diaphragmatic hernia, atrial septal defect, and severe episodic cyanosis

Congenital diaphragmatic herniation into the pericardial cavity is extremely rare. We report a case associated with an ostium secundum atrial septal defect and normal pulmonary vascular resistance, which resulted in severe episodic cyanosis.

Antenatal detection of congenital diaphragmatic hernias: The northern region experience

This study analyses 7 years of data relating to congenital diaphragmatic herniation in the Northern Region. Ninety-nine confirmed cases were notified to the Northern Region Fetal Abnormality Survey between 1985 and 1991, which is an incidence of 0.35 per 1000 births. A specific diagnosis of CDH was made by antenatal ultrasound in 21 fetuses. The rate of detection improved from 6% to 41% but this had no impact on survival; severe pulmonary hypoplasia was found in the majority dying in the first 48 h. Another structural abnormality occurred in 29% and was the primary antenatal scan diagnosis in 11 fetuses. No other reliable indicator of outcome was identified, including the gestation when detected. The incidence of chromosomal abnormality was 5% and Fryns' syndrome 4%.

Pulmonary sequelae in survivors of congenital diaphragmatic hernia.

Nineteen survivors of congenital diaphragmatic hernia repair were compared with age and sex matched control children six to 11 years after repair. All subjects were examined clinically and underwent lung function testing. The patients also had individual lung volumes assessed radiographically and had radionuclide (krypton-81 m, technetium-99 m macroaggregates) ventilation-perfusion (V/Q) lung scans. Four patients had pectus excavatum and two had mild scoliosis. Spirometric measurements were lower in the patients than in the control subjects but only the differences in peak expiratory flow and flow at 50% of expired vital capacity were significant. The radiographic left lung volumes in patients surviving left diaphragmatic repair were larger than expected at 49.3% (SD 2%), suggesting alveolar overdistension. V/Q scans showed a mismatch in the ipsilateral lung, mean Q (40% (7%] being significantly lower than mean V (47% (6%)). In seven patients who had required ventilation for four days or more perfusion to the ipsilateral lung was significantly lower (34% (6%)) than values for the 12 patients ventilated for less than four days (43% (6%)). Survivors of right diaphragmatic repair had a better outcome in terms of relative radiographic lung volumes and V/Q distribution. More severely affected children are now surviving repair of congenital diaphragmatic herniation, with residual pulmonary abnormalities that could produce functional impairment in adult life.

Alveolar to arterial oxygen tension difference and venous admixture in newly born infants with congenital diaphragmatic herniation through the foramen of Bochdalek.

Alveolar to arterial oxygen tension difference and venous admixture in newly born infants with congenital diaphragmatic herniation through the foramen of Bochdalek.

Congenital diaphragmatic hernia.

BETWEEN 1948 and 1966, the incidence of congenital diaphragmatic hernias at the John Gaston Hospital in Memphis, Tenn, has been 1/7,000 live births. The total number of cases at the teaching hospitals associated with the University of Tennessee averaged approximately two cases per year during this interval; thus, the condition is uncommon even in large medical centers. When a massive congenital diaphragmatic herniation presents as a respiratory emergency immediately after birth, the welfare of the infant is wholly dependent upon the prompt recognition and competent early management by the physician who attends the birth of the infant. In this study 12% of all patients died soon after birth before corrective surgical action could take place. The purpose of this study is to review the cases of congenital diaphragmatic hernias at the University of Tennessee teaching hospitals in Memphis in order to review the causes of mortality and to identify the