Diaphragmatic Eventration Research Articles

Right-sided diaphragmatic eventration: A rare entity

Eventration of the diaphragm is an abnormal elevation of the dome of diaphragm. It is a condition in which all or part of the diaphragm is largely composed of fibrous tissue with only a few or no interspersed muscle fibers. It can be complete or partial. Complete eventration of the right diaphragm, as seen in this adult patient, is relatively rare.

巨大結腸を伴う横隔膜弛緩症の1例

症例は59歳女性．咳嗽・喀痰・呼吸困難で近医を受診後胸部異常影で当科紹介となった．臥位では咳漱を生じるため半座位で眠っていた．来院時の血液検査ではWBC 14600/μl，CRP 12.9mg/dlと炎症所見を認めた．胸部X線では左横隔膜の挙上と拡張した大腸ガス像が左下肺野に認められた．胸部CTでは巨大結腸と左横隔膜の頭側への著明な圧排が認められた．主訴は呼吸器症状であり腹部臓器の観察の必要はないと考え胸腔側から手術を行った．左第7肋間開胸で弛緩した横隔膜を部分切除後マーレックスメッシュで補強した．術後呼吸器症状は改善し臥位でも睡眠できるようになった．横隔膜弛緩症を修復し巨大結腸を腹腔側へ圧排することに伴う腹部症状の悪化を懸念していたが，もともと存在した便秘以外は認めなかった．

Eventration of diaphragm with gastric volvulus: a case report

BackgroundEventration of diaphragm associated with gastric volvulus is an uncommon condition.Case presentationWe are reporting a case of a 60-year-old male having left sided total diaphragmatic eventration associated with chronic intermittent organo-axial gastric volvulus. The patient presented with progressive dyspnea and intermittent gastrointestinal symptoms. Plication of left hemidiaphragm with anterior gastropexy was performed through an abdominal approach. Postoperatively the patient's symptoms improved.ConclusionSymptomatic gastric volvulus associated with diaphragmatic eventration is a surgical emergency and always requires surgical repair.

Bilateral pulmonary contusion, flail chest and respiratory failure on late iatrogenic diaphragmatic eventration and severe kyphoskoliosis: a case report

BackgroundWe present a case of a 79 year old Caucasian Greek female with multiple acute and chronic diseases that in conjunction led to a critical condition.Case presentationShe had a chronic iatrogenic diaphragmatic eventration, chronic severe kyphoskoliosis and an acute thoracic trauma due to a falling. We decided to perform an operation for the diaphragmatic eventration and the flail chest on this patient in the hope of improving her respiratory capacity.ConclusionManaging one chronic (eventration) and one acute (flail chest) thoracic disorder would restore normal mechanical properties of the thoracic cavity, although none of these diseases would be managed surgically as separate entities.

Compression of the Right Atrium Due to Coexistence of Diaphragmatic Eventration and Chilaiditi's Syndrome

We report on a 70-year-old male who was admitted to hospital due to progressive onset of dyspnea and fever. Diagnostic work-up revealed a high diaphragmatic position, compression of the right heart and supraventricular tachycardia. A simultaneous incidental finding was hepatodiaphragmatic colonic interposition (Chilaiditi's syndrome). Diaphragmatic plication through a right thoracotomy with bowel reduction was effective to treat the patient.This is the second reported case in the literature of a simultaneous occurrence of diaphragmatic eventration and Chilaiditi's syndrome.

Thoracoscopic Plication for Diaphragmatic Eventration in a 3-Month-Old Infant

A 3-month-old male presented with a 2-month history of intermittent shortness of breath with chest retractions and wheezing which worsened with feeding. The patient was diagnosed with bronchiolitis during one of several hospital admissions and treated with bronchodilators without success. On the third hospitalization, the patient was diagnosed with right-sided diaphragmatic eventration. Surgical intervention consisted of video-assisted thoracoscopic surgery (VATS) with plication of the right diaphragm. The patient was discharged on the 2nd postoperative day. At the clinical visit 2 weeks postoperatively, the patient's respiratory symptoms as well as interrupted feeding secondary to shortness of breath had resolved. The chest X-ray revealed a significant improvement in the position of the right diaphragm. VATS with diaphragmatic plication is a viable approach for treating diaphragmatic eventration during infancy. To our knowledge, this 3-month-old male is the youngest patient reported to have undergone plication via VATS for diaphragmatic eventration.

Neonatal arrhythmia with diaphragmatic eventration

Supraventricular tachycardia is the most common symptomatic arrhythmia in young patients, frequently associated with Wolff-Parkinson-White (WPW) syndrome. We report a case of supraventricular tachycardia with Wolff-Parkinson-White (WPW) syndrome associated with partial eventration of a diaphragm in a neonate.

Congenital diaphragm weakness without neuromuscular disease

We report on two children presenting at birth with respiratory failure, bilateral diaphragmatic eventration, and floppiness. Electrodiagnostic studies of the limbs, and biochemical and DNA studies excluded generalized neuromuscular diseases. Phrenic nerve electrodiagnostic studies and electromyography of the diaphragm suggested isolated diaphragm hypoplasia. Diaphragm muscle biopsy showed a paucity of muscle fibers. Isolated hypoplasia of the diaphragm is a rare cause of neonatal respiratory failure, which may have a favorable outcome with long-term ventilatory support.

Persistent phrenic palsy following interscalene block, leading to chronic respiratory insufficiency and requiring long-term non-invasive ventilation

A persistent phrenic palsy after interscalene block is a rare but possibly severe complication particularly in patients with previous lung function impairment or co-morbidities. We report the case of a patient, with a past history of post-traumatic diaphragmatic eventration, who presents a persistent respiratory insufficiency leading to long term non-invasive ventilation following interscalene block for rotator cuff shoulder surgery. A preoperative careful evaluation of patients addressed to interscalene block could avoid such long term complications.

Impact of concomitant thoracic interventions on feasibility of Nuss procedure

Background This study aimed to analyze the feasibility of subsequent minimally invasive pectus repair, particularly modified Nuss procedure, combined with simultaneous thoracic procedures for different underlying intrathoracic diseases and conditions. Methods A total of 110 patients, who underwent minimally invasive pectus repair in Nuss technique over a 5-year period, were retrospectively analyzed concerning complications, cosmetic results, and satisfaction. Six patients (5%) underwent the Nuss procedure with concomitant thoracic interventions. Patients with prior cardiac surgery or planned redo pectus repair were not examined and were excluded. The mean age of 6 patients (3 male and 3 female) was 11 years (range, 5.5-17.2). Two patients with former left-sided transabdominal diaphragmatic hernia repair and 1 with former lobectomy of the left lower lobe underwent thoracoscopic adhesiolysis. Two underwent thoracotomy: one for closure of a recurrent left-sided diaphragmatic hernia with fundoplication owing to a large hiatal hernia, another for lobectomy of the right middle lobe owing to recurrent infections and bronchodysplasia. One patient presented with anterior mediastinal mass, which was suspected to be benign, and underwent thoracoscopic complete resection. All patients underwent a 1-stage procedure with subsequent simultaneous Nuss procedure. Results Simultaneous Nuss procedure was feasible without intraoperative complications in all patients (100%). Thoracoscopic adhesiolysis did not affect the feasibility of the Nuss procedure in 3 patients with former diaphragmatic hernia repair, particularly former lobectomy in one. Thoracotomy with middle-lobe lobectomy, as well as repair of recurrent diaphragmatic hernia and fundoplication in 2, did not affect modified Nuss technique and dispensed thoracoscopic guidance. Histopathologic analysis in one patient with a removed anterior mediastinal mass revealed Hodgkin lymphoma (stage IA), and the patient received multiagent chemotherapy. The postoperative course was uneventful in 5 of 6 patients. One patient required intermittent drainage of pleural effusion after simultaneous lobectomy. At follow-up (6 months-5 years), 6 patients had excellent cosmetic results and good quality of life confirmed by a questionnaire. There was no evidence of recurrent malignancy in one patient after 6 months. Conclusions Thoracic surgery and subsequent Nuss procedure can be performed simultaneously. Underlying conditions, such as prior repair of congenital diaphragmatic hernia or diaphragmatic eventration, as well as former lobectomy, had no impact on feasibility. Open thoracotomy can be combined with Nuss procedure dispensing thoracoscopy.

PHRENOPLASTY: PHRENOPLICATION USING A DOUBLE DIAPHRAGMATIC TENT

PURPOSE: We present a personal procedure of phrenoplasty-phrenoplication for the treatment of diaphragmatic relaxations and eventrations.

Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRα reveals rare variants in diaphragmatic hernia patients

Congenital diaphragmatic hernia (CDH) is a common, life threatening birth defect. Although there is strong evidence implicating genetic factors in its pathogenesis, few causative genes have been identified, and in isolated CDH, only one de novo, nonsense mutation has been reported in FOG2 in a female with posterior diaphragmatic eventration. We report here that the homozygous null mouse for the Pdgfralpha gene has posterolateral diaphragmatic defects and thus is a model for human CDH. We hypothesized that mutations in this gene could cause human CDH. We sequenced PDGFRalpha and FOG2 in 96 patients with CDH, of which 53 had isolated CDH (55.2%), 36 had CDH and additional anomalies (37.5%), and 7 had CDH and known chromosome aberrations (7.3%). For FOG2, we identified novel sequence alterations predicting p.M703L and p.T843A in two patients with isolated CDH that were absent in 526 and 564 control chromosomes respectively. These altered amino acids were highly conserved. However, due to the lack of available parental DNA samples we were not able to determine if the sequence alterations were de novo. For PDGFRalpha, we found a single variant predicting p.L967V in a patient with CDH and multiple anomalies that was absent in 768 control chromosomes. This patient also had one cell with trisomy 15 on skin fibroblast culture, a finding of uncertain significance. Although our study identified sequence variants in FOG2 and PDGFRalpha, we have not definitively established the variants as mutations and we found no evidence that CDH commonly results from mutations in these genes.

Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6

Retinoic acid (RA) is a potent teratogen in all vertebrates when tight homeostatic controls on its endogenous dose, location, or timing are perturbed during early embryogenesis. STRA6 encodes an integral cell-membrane protein that favors RA uptake from soluble retinol-binding protein; its transcription is directly regulated by RA levels. Molecular analysis of STRA6 was undertaken in two human fetuses from consanguineous families we previously described with Matthew-Wood syndrome in a context of severe microphthalmia, pulmonary agenesis, bilateral diaphragmatic eventration, duodenal stenosis, pancreatic malformations, and intrauterine growth retardation. The fetuses had either a homozygous insertion/deletion in exon 2 or a homozygous insertion in exon 7 predicting a premature stop codon in STRA6 transcripts. Five other fetuses presenting at least one of the two major signs of clinical anophthalmia or pulmonary hypoplasia with at least one of the two associated signs of diaphragmatic closure defect or cardiopathy had no STRA6 mutations. These findings suggest a molecular basis for the prenatal manifestations of Matthew-Wood syndrome and suggest that phenotypic overlap with other associations may be due to genetic heterogeneity of elements common to the RA- and fibroblast growth factor-signaling cascades.

Bilateral eventration of the diaphragm with malrotation and unilateral renal agenesis

Bilateral eventration of the diaphragm associated with malrotation of gut and unilateral renal agenesis is a very rare entity. The authors treated a seven mth old male child who presented to them with respiratory distress and gastrointestinal problem. The child was anemic and was in type II respiratory failure. His X-ray chest showed bilateral eventration of diaphragm and ultrasonography abdomen was consistent with left renal agenesis which was confirmed by radionuclide scan. Bilateral plication of the diaphragm done with correction of malrotation which was diagnosed peroperatively. The association of these three anomalies are rare and to be kept in mind whenever treating a patient with bilateral eventration of the diaphragm.

Right diaphragmatic eventration associated with dextrocardia, hypoplasia of the right lower pulmonary lobe, and agenesis of the inferior vena cava

Right diaphragmatic eventration associated with dextrocardia, hypoplasia of the right lower pulmonary lobe, and agenesis of the inferior vena cava

Pleural and pericardial effusion: a potential ultrasonographic marker for the prenatal differential diagnosis between congenital diaphragmatic eventration and congenital diaphragmatic hernia

To determine whether or not the presence of pleural and/or pericardial effusion can be used prenatally as an ultrasonographic marker for the differential diagnosis between diaphragmatic eventration and diaphragmatic hernia. We present two case reports of non-isolated diaphragmatic eventration associated with pleural and/or pericardial effusion. Additionally, we reviewed the literature for all cases of congenital diaphragmatic hernia (CDH) and diaphragmatic eventration that met the following criteria: (1) prenatal diagnosis of a diaphragmatic defect and (2) definitive diagnosis by autopsy or surgery. The frequencies of pleural effusion, pericardial effusion and hydrops were compared between the two conditions using Fisher's exact test. A subanalysis was conducted of cases with isolated diaphragmatic defects (i.e. diaphragmatic defects not associated with hydrops and other major structural or chromosomal anomalies). A higher proportion of fetuses with diaphragmatic eventration had associated pleural and pericardial effusions compared with fetuses with diaphragmatic hernia (58% (7/12) vs. 3.7% (14/382), respectively, P < 0.001). This observation remained true when only cases of diaphragmatic defects not associated with hydrops and other major structural or chromosomal anomalies were compared (29% (2/7) with eventration vs. 2.2% (4/178) with CDH, P < 0.02). The presence of pleural and/or pericardial effusion in patients with diaphragmatic defects should raise the possibility of a congenital diaphragmatic eventration. This information is clinically important for management and counseling because the prognosis and treatment for CDH and congenital diaphragmatic eventration are different. Published by John Wiley & Sons, Ltd.

Differentiating Diaphragmatic Paralysis and Eventration

Although elevation of the diaphragm can be appreciated on conventional PA and lateral chest radiography, the modality is commonly viewed as inadequate to differentiate diaphragmatic paralysis from eventration. Our objective was to qualitatively and quantitatively measure the utility of chest radiography in determining the presence or absence of diaphragmatic paralysis in patients with an elevated diaphragm. A retrospective analysis of chest radiographs in 32 patients, whom underwent fluoroscopic sniff test for elevated diaphragm, was performed. Diaphragm function was graded by a senior radiology resident, as either "paralyzed" or "non-paralyzed," based on appearance/shape of elevated hemidiaphragm on PA and lateral radiograph. The diaphragm position and shape for all patients were determined using measurements relating to skeletal structures and radius of curvature, respectively. These results were correlated with the results of the fluoroscopic sniff tests. Of 32 patients with elevated diaphragm on chest radiograph, 17 had diaphragmatic paralysis confirmed with fluoroscopic sniff test. Our results indicate that the radius of curvature or shape of the diaphragm on lateral chest radiograph is the most important factor for detection of the presence or absence of diaphragmatic paralysis. HH/APD > 0.28 suggests against paralysis. Conventional chest radiography appears to be a useful modality for assessment of the functional status of an elevated diaphragm. Based on our results, evaluation of the shape of an elevated diaphragm may preclude the need for fluoroscopic sniff test to determine diaphragmatic paralysis.

Eventration of the diaphragm and associations

Eventration of the diaphragm, most often an isolated entity and detected incidentally, has been known to be associated with several genetic syndromes. Authors report their experience of seeing diaphragmatic eventration in association with Poland syndrome and wandering spleen syndrome and briefly discuss the literature.

Secondary diaphragmatic eventration after resection of extralobar pulmonary sequestration

Phrenic nerve preservation is an important factor in operations involving the resection of an extralobar pulmonary sequestration. We present a case of secondary diaphragmatic eventration due to damage to the phrenic nerve after resection of an extralobar pulmonary sequestration.

Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis

Autosomal recessive spinal muscular atrophy with respiratory distress (SMARD) is a heterogeneous disorder. Mutations in the immunoglobulin micro-binding protein gene (IGHMBP2) lead to SMARD1, but clinical criteria that delineate SMARD1 from other SMARD syndromes are not well established. Here we present a retrospective clinical and genetic study to determine the criteria that would predict the presence or absence of IGHMBP2 mutations. From 141 patients with respiratory distress and a spinal muscular atrophy phenotype we recorded the clinical features through a questionnaire and sequenced the entire coding region of IGHMBP2. In 47 (33%) patients we identified IGHMBP2 mutations, 14 of which were not described before. Clinical features and combinations thereof associated with the presence of IGHMBP2 mutations were discovered through hierarchical cluster analysis. This method detects common traits not evident at first sight by grouping items according to their similarity. The combination of "manifestation of respiratory failure between 6 weeks and 6 months" AND ("presence of diaphragmatic eventration" OR "preterm birth") predicted the presence of IGHMBP2 mutations with 98% sensitivity and 92% specificity. Non-SMARD1 patients fell into two different symptom clusters, mainly separated by the age at respiratory failure and the presence of multiple congenital contractures. The 14 novel IGHMBP2 mutations comprised missense, frameshift, splice-site, and nonsense mutations. All missense mutations altered conserved residues within or adjacent to the putative DNA helicase domain. The c.1235+3A>G splice-site mutation did not entirely suppress correct splicing and we found a residual wild-type IGHMBP2 mRNA steady-state level of 24.4+/-6.9%, which was, however, not sufficient to avert SMARD1 in this patient.