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Seminars in Fetal & Neonatal Medicine Aug 2022Congenital diaphragmatic hernia (CDH) contributes to neonatal morbidity and mortality worldwide. Pulmonary hypertension (PH) is a key component of CDH pathophysiology... (Review)
Review
Congenital diaphragmatic hernia (CDH) contributes to neonatal morbidity and mortality worldwide. Pulmonary hypertension (PH) is a key component of CDH pathophysiology and critical consideration for management and therapeutic options. PH associated with CDH has traditionally been attributed to pulmonary vascular maldevelopment and associated lung parenchymal hypoplasia, leading to pre-capillary increase in pulmonary vascular resistance (PVR). However, there is increasing recognition that left ventricular hypoplasia, dysfunction and elevated end diastolic pressure may contribute to post-capillary pulmonary hypertension in CDH patients. The interplay of these mechanisms and associated dysfunction in the right and left ventricles results in variable hemodynamic phenotypes in CDH. Clinical assessment of individual phenotype may help guide personalized management strategies, including effective use of pulmonary vasodilators and extra-corporeal membrane oxygenation. Ongoing investigation of the underlying mechanisms of PH in CDH, and efficacy of physiology-based treatment approaches may support improvement in outcomes in this challenging condition.
Topics: Echocardiography; Heart Ventricles; Hernias, Diaphragmatic, Congenital; Humans; Hypertension, Pulmonary; Lung
PubMed: 35995665
DOI: 10.1016/j.siny.2022.101383 -
Pediatric Surgery International Dec 2023Three-dimensional (3D) printing is frequently used for surgical simulation and training, however, no widely available model exists for neonatal congenital diaphragmatic...
INTRODUCTION
Three-dimensional (3D) printing is frequently used for surgical simulation and training, however, no widely available model exists for neonatal congenital diaphragmatic hernia (CDH). The aim of this study was to develop a 3D-printed model of CDH and test interobserver variability in the simulated model for obtaining measurements of the diaphragmatic defect and ipsilateral diaphragm.
METHODS
A term fetal MRI (3.5 kg) of thorax, diaphragm and defect (15 mm × 5 mm) were delineated and segmented after parental consent to produce 3D-printed models. Consultant and trainee paediatric surgeons were invited to measure the posterior-lateral diaphragmatic defect and ipsilateral diaphragm. Mean measurement error was calculated (millimetres). Data are presented as median (range) and number/total (%).
RESULTS
An abdominal and thoracoscopic model were produced and tested by 52 participants (20 consultants and 32 trainees). Diaphragmatic defect via laparotomy measured 15 (10-20) mm (AP) × 16 (10-25) mm (ML) and thoracoscopically 14 (11-19) mm (AP) × 15 (11-22) mm (ML). Mean error per measurement was 4 (1-17) mm via laparotomy vs. 3 (0.5-9.5) mm thoracoscopically. Mean error was similar between consultants and trainees via laparotomy (4.3 vs. 3.9 mm, p = 0.70) and thoracoscopically (3 vs. 3 mm, p = 0.79). Error did not correlate with experience as operating surgeon via laparotomy (β = 13.0 [95% CI - 55.9 to 82.0], p = 0.71) or thoracoscopically (β = 1.4[95% CI - 6.4 to 9.2], p = 0.73.
CONCLUSIONS
We have designed and built simulation models for CDH repair via laparotomy and thoracoscopically. Operators can reliably measure the diaphragmatic defect and ipsilateral diaphragm, regardless of surgical experience and operative approach.
Topics: Child; Humans; Infant, Newborn; Computer Simulation; Diaphragm; Fetus; Hernias, Diaphragmatic, Congenital; Laparotomy; Printing, Three-Dimensional
PubMed: 38147130
DOI: 10.1007/s00383-023-05600-0 -
Journal of Pediatric Surgery Oct 2020Congenital Diaphragmatic Hernia (CDH) associated with Omphalocele is a rare condition, and only a few case reports are available in the literature. Both conditions are...
BACKGROUND
Congenital Diaphragmatic Hernia (CDH) associated with Omphalocele is a rare condition, and only a few case reports are available in the literature. Both conditions are associated with some degree of pulmonary hypoplasia. We hypothesize that the combination of CDH with Omphalocele might be associated with poorer outcomes.
AIM
The aim of this study was to describe the incidence of this association and postnatal outcomes from the largest database available for CDH.
METHODS
Data from the multicenter, multinational database on infants with CDH (CDHSG Registry) born from 2007 to 2018 was analyzed.
RESULTS
A total of 5730 entries were made into the registry during the study period. The incidence of Omphalocele associated with CDH was 0.63% (36 out of 5730). When comparing posterolateral Bochdalek hernias with Omphalocele (CDH + O) to CDH without Omphalocele (CDH-), CDH + O were born at significantly younger gestational ages. They were sicker directly after birth with significantly lower APGARs at all time points, but received ECMO significantly less often. The distribution of left vs right side or the defect size did not differ but CDH + O required patch in a significantly larger extent. CDH + O had surgical repair significantly later and had significantly higher rates of non-repairs and significantly lower survival rates. The morbidity was significantly higher with longer hospital stays and higher requirements for O2 at 30 DOL.
DISCUSSION
CDH associated with Omphalocele is a rare but more severe condition with higher mortality and morbidity rates. Newborns with these combined conditions can be difficult to stabilize or might pose complicated management problems due to pulmonary hypertension and/or pulmonary hypoplasia.
TYPE OF STUDY
Prognosis Study.
LEVEL OF EVIDENCE
Level I.
Topics: Hernia, Umbilical; Hernias, Diaphragmatic, Congenital; Humans; Infant, Newborn; Prognosis
PubMed: 31870561
DOI: 10.1016/j.jpedsurg.2019.10.056 -
European Journal of Pediatric Surgery :... Dec 2021Congenital diaphragmatic hernia (CDH) is a relatively common and severe birth defect with variable clinical outcome and associated malformations in up to 60% of... (Review)
Review
Congenital diaphragmatic hernia (CDH) is a relatively common and severe birth defect with variable clinical outcome and associated malformations in up to 60% of patients. Mortality and morbidity remain high despite advances in pre-, intra-, and postnatal management. We review the current literature and give an overview about the genetics of CDH to provide guidelines for clinicians with respect to genetic diagnostics and counseling for families. Until recently, the common practice was (molecular) karyotyping or chromosome microarray if the CDH diagnosis is made prenatally with a 10% diagnostic yield. Undiagnosed patients can be reflexed to trio exome/genome sequencing with an additional diagnostic yield of 10 to 20%. Even with a genetic diagnosis, there can be a range of clinical outcomes. All families with a child with CDH with or without additional malformations should be offered genetic counseling and testing in a family-based trio approach.
Topics: Child; Counseling; Hernias, Diaphragmatic, Congenital; Humans; Karyotyping
PubMed: 34911129
DOI: 10.1055/s-0041-1740337 -
European Journal of Pediatrics Jun 2020Congenital diaphragmatic eventration (CDE) and congenital diaphragmatic hernia (CDH) with or without hernia sac are three different types of congenital diaphragmatic...
Congenital diaphragmatic eventration (CDE) and congenital diaphragmatic hernia (CDH) with or without hernia sac are three different types of congenital diaphragmatic malformations, which this study evaluates. All surgically treated patients with CDE or Bochdalek type CDH between 2000 and 2016 were included in this retrospective analysis. Demographics, CDH-characteristics, treatment, and clinical outcome were evaluated. In total, 200 patients were included. Patients with an eventration or hernia sac had no significant differences and were compared as patients without a true defect to patients with a true defect. The 1-year survival of patients with a true defect was significantly lower than patients with no true defect (76% versus 97%, p = 0.001). CDH with no true defect had significantly better short-term outcomes than CDH with true defect requiring patch repair. However, at 30 days, they more often required oxygen supplementation (46% versus 26%, p = 0.03) and had a higher recurrence rate (8% versus 0%, p = 0.006) (three eventration and two hernia sac patients). Conclusion: Patients without a true defect seem to have a more similar clinical outcome than CDH patients with a true defect, with a better survival. However, the recurrence rate and duration of oxygen supplementation at 30 days are higher than CDH patients with a true defect.What is Known:• Congenital diaphragmatic hernia with or without hernia sac and congenital diaphragmatic eventration (incomplete muscularization) are often treated similarly.• Patients with hernia sac and eventration are thought to have a relatively good outcome, but exact numbers are not described.What is New:• Congenital diaphragmatic eventration and patients with hernia sac seem to have a more similar clinical outcome than Bochdalek type CDH with a true defect.• Patients without a true defect (eventration or hernia sac) have a high recurrence rate.
Topics: Diagnosis, Differential; Diaphragmatic Eventration; Female; Follow-Up Studies; Hernias, Diaphragmatic, Congenital; Herniorrhaphy; Humans; Infant, Newborn; Male; Prognosis; Recurrence; Retrospective Studies; Survival Analysis
PubMed: 31965300
DOI: 10.1007/s00431-020-03576-w -
The Journal of Pediatrics Aug 2019
Topics: Female; Hernia, Diaphragmatic; Humans; Infant; Kidney Diseases; Radiography, Thoracic; Tomography, X-Ray Computed
PubMed: 31128884
DOI: 10.1016/j.jpeds.2019.04.036 -
The American Surgeon Nov 2023Giovanni Morgagni remains an eminent figure in the field of pathological anatomy. Born in Forli, Italy, he excelled as a child. He entered medical school at the age of...
Giovanni Morgagni remains an eminent figure in the field of pathological anatomy. Born in Forli, Italy, he excelled as a child. He entered medical school at the age of 16 years old in Bologna. By the age of 31 he held the chair position at the University of Padua. During his tenure, he discovered many anatomical and pathological findings, with the most widely known discovery being the Morgagni Hernia. Morgagni first described this eponymic hernia in an adult stonecutter during an autopsy. In addition to his many discoveries, his most esteemed written contribution to the field of medicine came in the form of a five-volume book titled , in which he correlated cadaveric anatomy and symptomatology revealed upon autopsy. He remained on faculty at the University of Padua for over five decades until his death in 1771.
Topics: Italy; History, 18th Century; Humans; Anatomy; Hernia, Diaphragmatic
PubMed: 33886389
DOI: 10.1177/00031348211011108 -
Diaphragmatic hernia after radiofrequency ablation of liver tumor case report and literature review.Rozhledy V Chirurgii : Mesicnik... 2022Radiofrequency ablation is an effective management modality for irresectable primary and secondary liver tumors. Some serious complications have been reported including... (Review)
Review
INTRODUCTION
Radiofrequency ablation is an effective management modality for irresectable primary and secondary liver tumors. Some serious complications have been reported including diaphragmatic hernia. Diaphragmatic hernia is the protrusion of abdominal viscera into the thoracic cavity through a diaphragmatic defect and usually classified into congenital and acquired. After RFA, diaphragmatic hernia is a rarely-reported complication.
CASE REPORT
A 62-year-old male patient, known to have liver cirrhosis on top of hepatitis C virus, presented to the emergency department with generalized abdominal pain and vomiting four months after having a RFA procedure for a liver tumor in segment VIII. Computed tomography showed diaphragmatic hernia with strangulated terminal ileum in the chest. Emergency laparotomy was performed with resection of an ileal segment and creation of double barrel ileostomy. The patient was discharged in a good condition after tolerating oral intake.
CONCLUSION
Radiofrequency ablation is an effective modality for management of the primary and secondary liver tumors. Despite its safety, some complication may happen owing to its thermal effect and the associated patients general condition. Many techniques have been described to decrease its thermal injury. Diaphragmatic hernia is a rare complication after RFA. Its clinical presentation may be confusing and it may occur as early as one month after RFA. Its diagnosis depends mainly on computed tomography. Emergency surgical management is the standard approach.
Topics: Humans; Male; Middle Aged; Hernia, Diaphragmatic; Liver Neoplasms; Catheter Ablation; Hernia, Hiatal; Tomography, X-Ray Computed
PubMed: 36402564
DOI: 10.33699/PIS.2022.101.10.508-513 -
[Therapy and Outcome of Neonates with Congenital Diaphragmatic Hernia and Congenital Heart Defects].Zeitschrift Fur Geburtshilfe Und... Oct 2021Die Mortalität von Patienten mit isoliert auftretenden angeborenen Zwerchfellhernien liegt in spezialisierten Zentren bei 20-40%. Wesentliche, das Outcome...
Die Mortalität von Patienten mit isoliert auftretenden angeborenen Zwerchfellhernien liegt in spezialisierten Zentren bei 20-40%. Wesentliche, das Outcome beeinflussende Faktoren, sind die bestehende Lungenhypoplasie, eine daraus resultierende pulmonale Hypertonie, sowie das Vorliegen weiterer Fehlbildungen. Begleitfehlbildungen wie angeborene Herzfehler treten bei ca. 18% aller Neonaten mit Zwerchfellhernie auf. Schwere angeborene Herzfehler wie das hypoplastische Linksherz Syndrom zeigen sich in ca. 8% der Fälle. In einer retrospektiven Analyse des Patientenkollektivs unserer Klinik zwischen 01/2012 und 12/2018 wurde das prä- und postnatale Management, sowie das Outcome von Neugeborenen mit der Kombination aus angeborenen Herzfehlern und Zwerchfellhernien untersucht. Im Studienzeitraum wurden in unserer Klinik 156 Neugeborene mit Zwerchfellhernie behandelt. Bei 10 Patienten (6,4%) lag zusätzlich ein schwerer, bei 11 Patienten (7,1%) ein moderater Herzfehler vor. 6/21 Patienten verstarben im Verlauf des Krankenhausaufenthaltes, davon 3 am ersten Lebenstag. Es zeigte sich eine deutlich geringere Mortalität bei Patienten mit Zwerchfellhernie und moderatem Herzfehler im Vergleich zu schwerem Herzfehler (9 vs. 50%). Besonders hoch lag die Mortalität bei Kindern mit einem univentrikulären Herzen. Trotz einer deutlich reduzierten Prognose bei der Kombination aus angeborenem Herzfehler und Zwerchfellhernie muss nicht generell mit einer infausten Prognose gerechnet werden. In spezialisierten Zentren kann ein kurativer Ansatz erfolgen.The mortality of patients with isolated congenital diaphragmatic hernia (CDH) in specialized centers is 20-40%. The main factors influencing the outcome are the underlying pulmonary hypoplasia, the resulting pulmonary hypertension and the presence of other malformations. Concomitant malformations such as congenital heart defects occur in around 18% of all neonates with a diaphragmatic hernia. Serious congenital heart defects such as hypoplastic left heart syndrome occur in approximately 8% of cases. In a retrospective analysis of the patient collective of our hospital between 01/2012 and 12/2018, the prenatal and postnatal management as well as the outcome of newborns with a combination of congenital heart defects and diaphragmatic hernias were examined. During the study period, 156 newborns with diaphragmatic hernias were treated at our institution. In 10 patients (6.4%) there was also a severe, and in 11 patients (7.1%) a moderate heart defect. 6/21 patients died during their hospital stay, 3 of them on the first day of life. There was a significantly lower mortality in patients with diaphragmatic hernia and moderate heart defects compared to severe heart defects (9 vs. 50%). The mortality in children with a univentricular heart was particularly high. Despite a significantly reduced prognosis for the combination of congenital heart defects and diaphragmatic hernia, generally a poor prognosis does not have to be expected. A curative approach can be achieved in specialized centers.
Topics: Animals; Child; Heart Defects, Congenital; Hernias, Diaphragmatic, Congenital; Humans; Infant, Newborn; Mice; Prognosis; Retrospective Studies
PubMed: 33694149
DOI: 10.1055/a-1392-1460 -
Pediatric Surgery International Sep 2020Congenital diaphragmatic hernia (CDH) is a relatively common and life-threatening birth defect, characterized by incomplete formation of the diaphragm. Because CDH... (Review)
Review
Congenital diaphragmatic hernia (CDH) is a relatively common and life-threatening birth defect, characterized by incomplete formation of the diaphragm. Because CDH herniation occurs at the same time as preacinar airway branching, normal lung development becomes severely disrupted, resulting almost invariably in pulmonary hypoplasia. Despite various research efforts over the past decades, the pathogenesis of CDH and associated lung hypoplasia remains poorly understood. With the advent of molecular techniques, transgenic animal models of CDH have generated a large number of candidate genes, thus providing a novel basis for future research and treatment. This review article offers a comprehensive overview of genes and signaling pathways implicated in CDH etiology, whilst also discussing strengths and limitations of transgenic animal models in relation to the human condition.
Topics: Animals; Animals, Genetically Modified; Disease Models, Animal; Genetic Association Studies; Hernias, Diaphragmatic, Congenital; Signal Transduction
PubMed: 32591848
DOI: 10.1007/s00383-020-04705-0