Congenital diaphragmatic hernia: defect size correlates with developmental defect.

PURPOSE: The aim of our study was to elucidate if the defect size reflects the magnitude of the developmental defect in patients with CDH. METHODS: All patients recorded in the CDH Study Group registry between January 1, 2007, and December 31, 2010, and with defect classification were included in the study. They were divided according to defect size (A-D) and compared for: gestational age (GA), birth weight (BW), number of abnormal organ systems, prevalence of associated anomalies, cardiovascular malformations (CVM), chromosomal anomalies, liver in the chest, and hernia sac. RESULTS: A total of 1350 of 1778 patients had defect classification: 173 A, 557 B, 438 C, and 182 D. Mortality rate was 0.6%, 5.3%, 22.6%, and 45.6% in group A, B, C, and D, respectively, (p<0.0001; p for trend <0.0001). GA, BW, prevalence of associated anomalies, particularly CVM, number of abnormal organ systems, and prevalence of sac were significantly different between the groups, with a significant reduction of GA, BW, and prevalence of sac. There was an increase in prevalence of associated anomalies, liver in the chest, and number of abnormal systems as the defect size increased. CONCLUSION: Defect size is directly correlated with mortality rate, prevalence of other anomalies (particularly CVM), and number of abnormal systems, and inversely with GA, BW, and prevalence of hernia sac. The defect size may be a marker for the magnitude of developmental abnormality, thereby explaining its relationship with the outcome.

Congenital diaphragmatic defects: proposal for a new classification based on observations in 234 patients.

Congenital diaphragmatic defects (CDDs) are a common group of birth defects, yet we presently know little about their pathogenesis. No systematic study documenting the detailed morphology of CDD has been performed, and current classification schemata of diaphragm phenotypes incompletely capture the location and extent of diaphragmatic involvement. To define the range of CDD anatomy, diaphragmatic pathology was reviewed from an examination of 181 autopsy records of children with CDDs at Children's Hospital Boston between 1927 and 2006. Defects were classified according to several parameters, including type (communicating versus noncommunicating) and location (anterior, posterior, etc.). The information permitted development of a phenotyping worksheet for prospective use on patients undergoing diaphragmatic repair at Children's Hospital Boston or MassGeneral Hospital for Children. Fifty-three patients who died between 1990 and 2006 had a total of 63 defects. Thirty-nine had a "classic" CDD phenotype (64% posterolateral, 18% hemidiaphragmatic aplasia, and 18% anterior). The remaining 19 defects, not fitting classical descriptions, were located in the posteromedial, anterolateral, or lateral regions of the diaphragm. Prospective data collected during surgical repair revealed posterolateral defects in 34 of 41 cases that demonstrated wide phenotypic variability in size, location, shape, type, and extent of organ displacement. Congenital diaphragmatic defects display significant phenotypic variation. Because rigorous anatomic evaluation and documentation are important steps towards elucidating the developmental biology of these disorders, we suggest establishment of a new and more precise classification using the model presented herein.

The congenital diaphragmatic hernia composite prognostic index correlates with survival in left-sided congenital diaphragmatic hernia.

PURPOSE: We developed the congenital diaphragmatic hernia congenital prognostic index (CDH-CPI) to incorporate all known prognostic variables into a single composite index to improve prognostic accuracy. The purpose of this study is to examine the ability of the CDH-CPI to predict survival in patients with left-sided congenital diaphragmatic hernia and to determine if the index has a stronger correlation with survival than each of the individual components. METHODS: A retrospective review of patients with left-sided congenital diaphragmatic hernia between 2004 and 2010 was conducted. Ten prenatal parameters of the CDH-CPI were collected, total score was tabulated, and patients stratified according to total score and survival. RESULTS: Sixty-four patients with a prenatal diagnosis of left-sided congenital diaphragmatic hernia were identified. Patients with a CDH-CPI score of 8 or higher had a significantly higher survival than patients with a CDH-CPI score of lower than 8. The CDH-CPI has the strongest correlation with survival compared with the individual parameters measured. The CDH-CPI correlates with extracorporeal membrane oxygenation use, and 75% of patients with a score of 5 or lower were placed on extracorporeal membrane oxygenation. CONCLUSIONS: The CDH-CPI accurately stratifies survival in left-sided congenital diaphragmatic hernia. The amalgamation of 10 prenatal parameters of the CDH-CPI may be a better prenatal predictor than any single prognostic variable currently used.

Hernia diafragmática congénita: caso clínico y la importancia del diagnóstico prenatal / Congenital diaphragmatic hernia: a case report

Congenital diaphragmatic hernia (CDH) is a disease with a high postnatal morbidity and mortality due to the lung hypoplasia associated, which is why it is so important an early diagnosis, being recommended in average in the second trimester of gestation. This finding allows a proper immediate management of the newborn in a specialized health center. Through a case report we will present a review of CDH types and diagnosis, making emphasis in theultrasonographic diagnosis during pregnancy.

La Hernia Diafragmática Congénita (HDC) es una enfermedad que presenta una alta morbimortalidad postnatal por la hipoplasia pulmonar asociada, poresto es importante un diagnóstico precoz, siendo recomendado en promedio dentro del segundo trimestre de gestación. Este hallazgo permite unadecuado manejo inmediato del recién nacido en un centro de salud especializado. En base al caso clínico que se presentará a continuación realizamos una revisión sobre los tiposy el diagnóstico de la HDC haciendo énfasis en el diagnóstico ultrasonográfico durante el embarazo.

Synchronous ipsilateral Bochdalek and Morgagni diaphragmatic hernias: a case report.

The etiology of congenital diaphragmatic hernia (CDH) is unknown. Phenotypic patterns of CDH defects provide clues about normal diaphragm development and the pathophysiology of CDH. We report a case of a patient who was diagnosed with CDH postnatally and was found on imaging to have simultaneous Bochdalek and Morgagni hernias on the right side. During the operative repair of these defects, an additional left-sided Morgagni-type defect was also found. To the best of our knowledge, this form of CDH has not been previously reported.

Patología del diafragma / Diseases of the diaphragm

El diafragma es el principal músculo involucrado en la ventilación y está inervado exclusivamente por los nervios frénicos. Los defectos congénitos de la musculación del diafragma o la lesión de los nervios frénicos causan la patología denominada parálisis-eventración diafragmática. El pronóstico y el tratamiento dependen de si la afectación es uni o bilateral y de la situación clínica previa del paciente. Además, el diafragma sirve de separación anatómica entre la cavidad torácica y abdominal, y está atravesado por el esófago e importantes estructuras vasculares y nerviosas. La dilatación anómala de los orificios naturales del diafragma o la pérdida de continuidad del mismo pueden provocar el paso de estructuras abdominales a la cavidad torácica, lo que conocemos como hernias diafragmáticas. Según su etiología, las hernias se dividen en: congénitas, adquiridas y traumáticas. Las manifestaciones clínicas, el pronóstico y el tratamiento dependen en gran medida del tamaño de la hernia y de la edad de aparición. Como en cualquier músculo, en el diafragma se pueden desarrollar tumores primarios benignos o malignos. Sin embargo, es mucho más frecuente la afectación tumoral del diafragma por tumores que asientan en órganos vecinos. El pronóstico es bueno en los tumores primarios benignos y pésimo en los tumores malignos, tanto primarios como secundarios. En este artículo se revisan las principales características anatómicas y fisiológicas del diafragma, sus vías de abordaje quirúrgico y sus patologías más frecuentes (AU)

The diaphragm is the main muscle involved in ventilation and is supplied exclusively by the phrenic nerves. Congenital defects of the diaphragm muscle or phrenic nerve injury cause diaphragmatic paralysis eventration. Prognosis and treatment depend on whether involvement is unilateral or bilateral and on the patient’s previous clinical status. In addition, the diaphragm is an anatomical barrier between the thoracic and abdominal cavities and is traversed by the esophagus and important vascular and nerve structures. Abnormal dilation of the natural orifices of the diaphragm or loss of its continuity can cause abdominal structures to pass into the chest cavity, an occurrence known as diaphragmatic hernias. According to their etiology, hernias are divided into congenital, acquired and traumatic. Clinical manifestations, prognosis and treatment depend mainly on hernia size and age at diagnosis. Like any muscle, the diaphragm can develop benign or malignant primary tumors. However, diaphragm involvement due to tumors arising in adjacent organs is much more common. The prognosis is good in benign primary tumors and poor in both primary and secondary malignant tumors. This article reviews the main anatomical and physiological characteristics of the diaphragm, routes of surgical access and the most frequent diseases affecting this structure (AU)

[Diseases of the diaphragm]. / Patología del diafragma.

The diaphragm is the main muscle involved in ventilation and is supplied exclusively by the phrenic nerves. Congenital defects of the diaphragm muscle or phrenic nerve injury cause diaphragmatic paralysis-eventration. Prognosis and treatment depend on whether involvement is unilateral or bilateral and on the patient's previous clinical status. In addition, the diaphragm is an anatomical barrier between the thoracic and abdominal cavities and is traversed by the esophagus and important vascular and nerve structures. Abnormal dilation of the natural orifices of the diaphragm or loss of its continuity can cause abdominal structures to pass into the chest cavity, an occurrence known as diaphragmatic hernias. According to their etiology, hernias are divided into congenital, acquired and traumatic. Clinical manifestations, prognosis and treatment depend mainly on hernia size and age at diagnosis. Like any muscle, the diaphragm can develop benign or malignant primary tumors. However, diaphragm involvement due to tumors arising in adjacent organs is much more common. The prognosis is good in benign primary tumors and poor in both primary and secondary malignant tumors. This article reviews the main anatomical and physiological characteristics of the diaphragm, routes of surgical access and the most frequent diseases affecting this structure.

Radiographic findings of diaphragmatic hernia and hypoplastic lung.

OBJECTIVE: Congenital diaphragmatic hernia (CDH) has a poor prognosis, despite intensive management. The prognosis of CDH is correlated with hypoplastic lung, but it is difficult to measure the degree of hypoplasia. The aims of this study were, therefore, to examine the relationship between chest X-ray and prognosis, and to assess whether the radiographic findings were a good indicator of hypoplastic lungs in patients with CDH. STUDY DESIGN: Fifty neonates with CDH were classified radiographically into apex and hilar types. To assess the differences in clinical course between these two groups, gestational age, birth weight, prenatal diagnosis, survival rate, requirement of extracorporeal membrane oxygenation (ECMO) therapy and lung area on X-rays were analyzed. RESULTS: In all, 32 cases were of the apex type and 18 were hilar. The survival rate of the hilar group (33%) was significantly worse than that of the apex group (81%) (P<0.001). The hilar group required ECMO therapy more frequently than did the apex group. CONCLUSIONS: The present results show a significant correlation between survival rate and the findings of chest X-rays in CDH. Radiographic findings are thus a good clinical indicator of the prognosis of CDH in neonates.

Morgagni-Larrey parasternal diaphragmatic hernia in the adult.

With a prevalence of 0.3-0.5/1000 births, congenital diaphragmatic hernia (CDH) remains a serious, poorly understood abnormality with a high mortality rate that cannot always be effectively managed. Its reported frequency in Spain is 0.69%00 with a yearly decreasing trend of 0.10%00 during the period 1980-2006. Up to 5% of cases are incidentally identified in adults undergoing studies for other reasons.We report the case of a 74-year-old woman with vomiting for three months due to parasternal diaphragmatic hernia of Morgagni-Larrey (retrochondrosternal, retrocostoxyphoid, retrosternal, subcostal, substernal or subcostosternal hernia), which allowed us to report an update on this condition in the adult, and on thoracoabdominal diaphragm morphogenesis. It is in the embryology of the diaphragm where an explanation may be found for some morphological changes and clinical manifestations, even though a number of uncertainties remain. We also analyze the extent of controversy persisting on some aspects of surgical treatment (access routes, mesh use, hernial sac reduction). Overall, minimally invasive techniques predominate. We consider laparoscopy the approach of choice for adult patients with parasternal hernia eligible for surgery.

Hernia diafragmática paraesternal de Morgagni-Larrey en adulto / Morgagni-Larrey parasternal diaphragmatic hernia in the adult

Con una prevalencia de 0,3-0,5/1.000 nacimientos, la hernia diafragmática congénita (HDC) sigue siendo una anomalía grave, no bien entendida, alta mortalidad y tratamiento no siempre efectivo. En España se ha informado de una frecuencia del 0,69%oo con una tendencia decreciente en el periodo 1980-2006 del 0,10%oo por año. No obstante, hasta un 5% se diagnostican en adultos durante la realización de un reconocimiento por otra causa. Presentamos un cuadro de vómitos de tres meses de evolución en una mujer de 74 años por hernia diafragmática paraesternal de Morgagni-Larrey (retrocondroesternal, retrocostoxifoidea, retroesternal, subcostal, subesternal o subcostoesternal), que nos ha permitido realizar una actualización de esta patología en adultos y de la morfogénesis del diafragma toracoabdominal. Es en la embriología del diafragma donde encontramos explicación de algunas de sus alteraciones morfológicas y características clínicas, si bien persisten aspectos confusos de la misma. También analizamos el grado de controversia que persiste en algunos aspectos de su tratamiento quirúrgico (vías de acceso, uso o no de mallas y reducción o no del saco herniario). Por lo general priman las técnicas mínimamente invasivas. Consideramos el abordaje laparoscópico como de elección en pacientes adultos con hernia paraesternal candidatos a la cirugía(AU)

With a prevalence of 0.3-0.5/1000 births, congenital diaphragmatic hernia (CDH) remains a serious, poorly understood abnormality with a high mortality rate that cannot always be effectively managed. Its reported frequency in Spain is 0.69%oo with a yearly decreasing trend of 0.10%oo during the period 1980-2006. Up to 5% of cases are incidentally identified in adults undergoing studies for other reasons. We report the case of a 74-year-old woman with vomiting for three months due to parasternal diaphragmatic hernia of Morgagni-Larrey (retrochondrosternal, retrocostoxyphoid, retrosternal, subcostal, substernal or subcostosternal hernia), which allowed us to report an update on this condition in the adult, and on thoracoabdominal diaphragm morphogenesis. It is in the embryology of the diaphragm where an explanation may be found for some morphological changes and clinical manifestations, even though a number of uncertainties remain. We also analyze the extent of controversy persisting on some aspects of surgical treatment (access routes, mesh use, hernial sac reduction). Overall, minimally invasive techniques predominate. We consider laparoscopy the approach of choice for adult patients with parasternal hernia eligible for surgery(AU)

Use of a prosthetic patch for laparoscopic repair of Morgagni diaphragmatic hernia in children.

BACKGROUND: Morgagni hernias are well suited to laparoscopic repair. A primary suture closure may result in tension on the repair, thereby predisposing the patient to a recurrence. A prosthetic patch (PP) can be used to provide a tension-free repair. In this study, we reviewed our experience with the laparoscopic PP repair of Morgagni hernias in children. METHODS: A retrospective chart review of all patients undergoing a laparoscopic Morgagni hernia repair using a PP was undertaken between November 2002 and January 2006. Outcome measures included age, gender, defect size, use of mesh, and outcome. The time of follow-up was from 6 to 37 months. RESULTS: Seven (7) patients (6 male, 1 female) underwent a laparoscopic repair of Morgagni hernia during this time period. Six (6) patients had a congenital hernia, and 1 patient was thought to have an iatrogenic hernia following a sternotomy for heart surgery. Defect size ranged from 4 to 7 cm in maximum dimension. All operations were completed laparoscopically, no patients presented with recurrence, and no PP complications were encountered. CONCLUSIONS: The laparoscopic repair of Morgagni hernia using a PP can be performed with relative ease and with a positive outcome, and may prevent future recurrence by effecting a tension-free repair.

Diaphragm development and congenital diaphragmatic hernia.

Advances in the understanding of normal diaphragm embryogenesis have provided the necessary foundation for novel insights into the pathogenesis of congenital diaphragmatic hernia (CDH). Although diaphragm formation is still not completely understood, we have identified key structures and periods of development that are clearly abnormal in animal models of CDH. The pleuroperitoneal fold (PPF) is a transient structure which is the target for the neuromuscular component of the diaphragm. The PPF has been shown to be abnormal in multiple animal models of Bochdalek CDH; specifically, a malformation of the nonmuscular component of this tissue is thought to underlie the later defect in the complete diaphragm. Based on data from animal models and the examination of human postmortem tissue, we hypothesize that abnormal PPF development underlies Bochdalek CDH. Further, the understanding of the pathogenesis of rarer subtypes of CDH will be advanced by the study of various new animal models discussed in this review.

Abdominal hernias: imaging review and historical perspectives.

Many eminent anatomists originally described abdominal hernias, some of which are still named after the original authors. In this article, the radiologic features of abdominal hernias are reviewed as imaged on x-ray, ultrasound, multidetector computed tomography, and magnetic resonance imaging. Recognition of the typical appearance of various types of abdominal hernias and associated adverse features such as bowel obstruction, perforation, strangulation, or volvulus formation can help in formulating an accurate diagnosis. A short biography of the scientists associated with eponymous hernias and their other important scientific contributions are also described.

[Magnetic resonance imaging in the diagnosis of retrosternal anterior diaphragmatic hernia in an adult man]. / Zastosowanie techniki rezonansu magnetycznego do diagnostyki wrodzonej przepukliny przeponowej u doroslego mezczyzny.

The study presents a case report of a retrosternal anterior diaphragmatic hernia in a 46-year-old man presented with abdominal pain, nausea, dyspnoea and treated previously as for chronic pancreatitis. A strong suspicion of the diaphragmatic hernia was generated after chest radiograph. However, the exact diagnosis of the Morgagni hernia was established by magnetic resonance imaging. The hernia was repaired through thoracic incision. The postoperative course proved uneventful: the patient was discharged from the hospital 10 days after surgical intervention.

Infants with Bochdalek diaphragmatic hernia: sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program.

Congenital diaphragmatic hernia (CDH) is a common and often devastating birth defect. In order to learn more about possible genetic causes, we reviewed and classified 203 cases of the Bochdalek hernia type identified through the Brigham and Women's Hospital (BWH) Active Malformation Surveillance Program over a 28-year period. Phenotypically, 55% of the cases had isolated CDH, and 45% had complex CDH defined as CDH in association with additional major malformations or as part of a syndrome. When classified according to likely etiology, 17% had a Recognized Genetic etiology for their CDH, while the remaining 83% had No Apparent Genetic etiology. Detailed analysis using this largest cohort of consecutively collected cases of CDH showed low precurrence among siblings. Additionally, there was no concordance for CDH among five monozygotic twin pairs. These findings, in conjunction with previous reports of de novo dominant mutations in patients with CDH, suggest that new mutations may be an important mechanism responsible for CDH. The twin data also raise the possibility that epigenetic abnormalities contribute to the development of CDH.

Patterns of cerebral injury in a series of infants with congenital diaphragmatic hernia utilizing magnetic resonance imaging.

BACKGROUND: Congenital diaphragmatic hernia (CDH) is a condition with significant mortality and respiratory morbidity. Long-term neurodevelopmental outcome is not yet well documented. METHODS: The authors examined all cases of CDH at their institution over a 12-month period and performed magnetic resonance imaging (MRI) of the brain postoperatively. RESULTS: Eight of 10 patients survived to have an MR brain scan. All 8 patients had cerebral injury detected on MRI, with a predominance of white matter and deep nuclear gray matter injury. CONCLUSIONS: Cerebral injury detected with MRI is common in infants with congenital diaphragmatic hernia. The long-term significance of these MRI abnormalities is unknown, although the need for good long-term neurodevelopmental follow-up of infants with CDH is highlighted.

Early experience with minimally invasive repair of congenital diaphragmatic hernias: results and lessons learned.

BACKGROUND: Minimally invasive surgery (MIS) for the repair of congenital diaphragmatic hernias (CDH) had been described. This report reviews the authors' experience with MIS repairs of CDH and discusses the technical development of this approach. METHODS: From 1999 until now, the authors collected data on children who underwent an MIS approach for CDH repair. RESULTS: Seventeen children (11 Morgagni and 7 Bochdalek) had undergone an attempt at MIS repair. All Morgagni defects were treated successfully using laparoscopy (mean age, 28 +/- 31 months). Mean follow-up was 22 +/- 9 months. There was 1 recurrence. Four children with Bochdalek CDH were treated as newborns (range, 3 to 21 days), and 3 had operations later (4, 11, and 32 months). The first repair was attempted initially transabdominally and was converted to a thoracoscopic approach. The rest of the Bochdalek repairs were performed thoracoscopically. Bochdalek repairs via MIS were successful in 3 children (2 older children and 1 neonate). No child had pulmonary hypertension. Two of the 3 Bochdalek patients did well postoperatively (follow-up, 18 +/- 7 months); the last patient experienced recurrence 11 months after repair. CONCLUSIONS: MIS for CDH is ideal for Morgagni defects. It should be considered for nonnewborns with a Bochdalek CDH. The MIS approach for a newborn with a CDH cannot be recommended because of the high failure rate and frequent rise in PCO2 levels.

Hernia giafragmatica traumatica de aparicion precos / Early traumatic diapharmatic hernia

Las hernias diafmgmáticas de origen traumático son una patología poco frecuente en los mños y generalmente esta asociada a lesiones en otros órganos. Se presenta este caso por la forma de evolución y al presentar solo lesión diafragmática, fue importante el seguimiento de la paciente para un diagnóstico temprano, la conducta fue quirúrgica con laparatomia y sutura del dliafragma roto

[The systematization and the etiopathogenicity of diaphragmatic hernias]. / Sistematizarea si etiopatogenia herniilor diafragmatice.

The author, based on up to date published dates, intends to present the classification and ethiopathogeny of the diaphragmatic hernias, except the aesophagic hiatus oms. This is an interesting chapter of the borderline surgery (abdominal and thorax). They are placed on the second position in frequency (after the hiatal hernias) in the diaphragmatic pathology; they are internal hernias, through congenital or obtained holes which allow to abdominal viscera to pass into thorax. They are--in the most cases, even elderly ones-congenital, result of the abnormalities in the embrionary growth of the diaphragm. A special place' is represented by the traumatic hernias.

Effect of CGS 26303, an endothelin-converting enzyme-neutral endopeptidase inhibitor, on nitrofen-induced congenital diaphragmatic hernia in the rat.

BACKGROUND/PURPOSE: The pathophysiology of congenital diaphragmatic hernia (CDH) associated with lung hypoplasia and pulmonary hypertension is not understood fully. Endothelins (ETs) are the most potent vasoconstrictors that also act as promitogenic agents. They may play a role during pregnancy in leading to the condition found at birth and ongoing mortality in CDH. Therefore, the authors studied the effect of CGS 26303, a nonselective endothelin-converting enzyme and neutral endopeptidase inhibitor, in the rat model of CDH. METHODS: Pregnant Sprague-Dawley rats were divided into 3 groups: group 1 (n = 4) received CGS 26303 (50 mg/kg, subcutaneously, twice a day), from gestational day 12 until term (21 to 23 days); group 2 (n = 8) received nitrofen (100 mg/kg, orally) at gestational day 11.5; group 3 (n = 8) received both nitrofen and CGS 26303. The survival of the newborn rats was monitored up to 240 minutes. After natural death or euthanasia, they were weighed and microdissected. The degree of hernia was quantified as small, moderate, or severe, and lungs and liver were harvested and weighed. RESULTS: Newborn rats from mothers of group 3 (n = 81) survived 196 +/- 8 minutes compared with 173 +/- 9 minutes of those of group 2 (n = 97). Severe CDH from group 3 (n = 20) had a mean survival time of 66 +/- 13 minutes compared with 26 +/- 4 minutes for those of group 2 (n = 27). Lung index in severe CDH pups of group 3 was increased by 13% compared with those from group 2 (P < .0001), whereas their liver index went down by 8% (P < .05). CONCLUSIONS: These results suggest that CGS 26303 might have a beneficial effect when given during pregnancy in increasing survival at birth and reducing the severity of the pulmonary hypoplasia in newborn rats with nitrofen-induced CDH.