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European Journal of Human Genetics :... Dec 2021Congenital diaphragmatic hernia (CDH) is a life-threatening malformation characterised by failure of diaphragmatic development with lung hypoplasia and persistent... (Review)
Review
Congenital diaphragmatic hernia (CDH) is a life-threatening malformation characterised by failure of diaphragmatic development with lung hypoplasia and persistent pulmonary hypertension of the newborn (PPHN). The incidence is 1:2000 corresponding to 8% of all major congenital malformations. Morbidity and mortality in affected newborns are very high and at present, there is no precise prenatal or early postnatal prognostication parameter to predict clinical outcome in CDH patients. Most cases occur sporadically, however, genetic causes have long been discussed to explain a proportion of cases. These range from aneuploidy to complex chromosomal aberrations and specific mutations often causing a complex phenotype exhibiting multiple malformations along with CDH. This review summarises the genetic variations which have been observed in syndromic and isolated cases of congenital diaphragmatic hernia.
Topics: Genetic Testing; Hernia, Diaphragmatic; Humans; Mutation; Vitamin A
PubMed: 34621023
DOI: 10.1038/s41431-021-00972-0 -
The European Respiratory Journal Apr 2012Infants with congenital diaphragmatic hernia (CDH) have significant mortality and long-term morbidity. Only 60-70% survive and usually those in high-volume centres. The...
Infants with congenital diaphragmatic hernia (CDH) have significant mortality and long-term morbidity. Only 60-70% survive and usually those in high-volume centres. The current Task Force, therefore, has convened experts to evaluate the current literature and make recommendations on both the antenatal and post-natal management of CDH. The incidence of CDH varies from 1.7 to 5.7 per 10,000 live-born infants depending on the study population. Antenatal ultrasound scanning is routine and increasingly complemented by the use of magnetic resonance imaging. For isolated CDH, antenatal interventions should be considered, but the techniques need vigorous evaluation. After birth, management protocols are often used and have improved outcome in nonrandomised studies, but immediate intubation at birth and gentle ventilation are important. Pulmonary hypertension is common and its optimal management is crucial as its severity predicts the outcome. Usually, surgery is delayed to allow optimal medical stabilisation. The role of minimal invasive post-natal surgery remains to be further defined. There are differences in opinion about whether extracorporeal membrane oxygenation improves outcome. Survivors of CDH can have a high incidence of comorbidities; thus, multidisciplinary follow-up is recommended. Multicentre international trials are necessary to optimise the antenatal and post-natal management of CDH patients.
Topics: Hernia, Diaphragmatic; Hernias, Diaphragmatic, Congenital; Humans; Infant; Infant, Newborn; Lung; Magnetic Resonance Imaging; Prognosis; Respiration, Artificial; Ultrasonography, Prenatal
PubMed: 22034651
DOI: 10.1183/09031936.00066511 -
Orphanet Journal of Rare Diseases Jan 2012Congenital Diaphragmatic Hernia (CDH) is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of... (Review)
Review
Congenital Diaphragmatic Hernia (CDH) is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. CDH can be a component of Pallister-Killian, Fryns, Ghersoni-Baruch, WAGR, Denys-Drash, Brachman-De Lange, Donnai-Barrow or Wolf-Hirschhorn syndromes. Some chromosomal anomalies involve CDH as well. The incidence is < 5 in 10,000 live-births. The etiology is unknown although clinical, genetic and experimental evidence points to disturbances in the retinoid-signaling pathway during organogenesis. Antenatal diagnosis is often made and this allows prenatal management (open correction of the hernia in the past and reversible fetoscopic tracheal obstruction nowadays) that may be indicated in cases with severe lung hypoplasia and grim prognosis. Treatment after birth requires all the refinements of critical care including extracorporeal membrane oxygenation prior to surgical correction. The best hospital series report 80% survival but it remains around 50% in population-based studies. Chronic respiratory tract disease, neurodevelopmental problems, neurosensorial hearing loss and gastroesophageal reflux are common problems in survivors. Much more research on several aspects of this severe condition is warranted.
Topics: Animals; Extracorporeal Membrane Oxygenation; Hernia, Diaphragmatic; Hernias, Diaphragmatic, Congenital; Humans; Infant, Newborn; Rare Diseases
PubMed: 22214468
DOI: 10.1186/1750-1172-7-1 -
British Medical Journal Jul 1960
Topics: Diaphragm; Hernia, Diaphragmatic; Hernia, Hiatal; Humans
PubMed: 13797067
DOI: 10.1136/bmj.2.5194.247 -
Postgraduate Medical Journal Jun 1952
Topics: Diaphragm; Hernia, Diaphragmatic; Hernia, Hiatal; Humans
PubMed: 14948680
DOI: 10.1136/pgmj.28.320.333 -
Proceedings of the Royal Society of... May 1952
Topics: Diaphragm; Hernia, Diaphragmatic; Hernia, Hiatal; Humans
PubMed: 14941832
DOI: No ID Found -
British Medical Journal Jul 1955
Topics: Diaphragm; Hernia, Diaphragmatic; Hernia, Hiatal; Humans
PubMed: 14389742
DOI: No ID Found -
Journal of B.U.ON. : Official Journal... 2019Diaphragmatic hernia following an esophagectomy for esophageal cancer (EC) can be both an early and late complication. The esophageal hiatus within the diaphragm is... (Review)
Review
PURPOSE
Diaphragmatic hernia following an esophagectomy for esophageal cancer (EC) can be both an early and late complication. The esophageal hiatus within the diaphragm is disrupted during the operation. However, the incidence of Post-Esophagectomy Diaphragmatic Hernia (PEDH) is unknown. PEDH can be life-threatening and surgical treatment is challenging. However, all PEDH do not require surgery. The rate of EC diagnosis is rising. Therefore, esophageal surgery, particularly esophagectomy, is gradually increasing. Undoubtedly, the numbers of PEDH increase as well.
METHODS
This review describes the presentation and diagnosis of PEDH after surgery for esophageal malignancy, as well as the management options for PEDH.
RESULTS
Fifteen papers regarding PEDH have been published. There are many different surgical approaches to complete an esophagectomy, while there are different approaches to repair PEDH.
CONCLUSION
Upper GI surgeons need to have an index of suspicion for PEDH. They must investigate and operate these patients if this complication develops, since an immediate surgery has a high mortality and poor outcome.
Topics: Esophageal Neoplasms; Esophagectomy; Hernia, Diaphragmatic; Herniorrhaphy; Humans; Risk Factors; Treatment Outcome
PubMed: 31786839
DOI: No ID Found -
Thorax Sep 1968Seventy-six cases of strangulated diaphragmatic hernia were reported up to 1953. An additional 64 cases reported between 1953 and 1966 are reviewed in this paper. The...
Seventy-six cases of strangulated diaphragmatic hernia were reported up to 1953. An additional 64 cases reported between 1953 and 1966 are reviewed in this paper. The incidence of strangulation in various types of congenital/traumatic, hiatal, and incisional herniae is discussed. Four further cases of strangulated diaphragmatic hernia are presented. The mechanism of strangulation, its diagnosis, complications, and treatment are discussed.
Topics: Adult; Aged; Female; Hernia, Diaphragmatic; Hernia, Diaphragmatic, Traumatic; Humans; Male; Middle Aged
PubMed: 5680239
DOI: 10.1136/thx.23.5.541 -
Journal of the National Medical... Nov 1974
Topics: Esophagoscopy; Esophagus; Hernia, Diaphragmatic; Humans; Methods
PubMed: 4436883
DOI: No ID Found