Congenital diaphragmatic hernia natural history, complications and prognosis: Difference between revisions
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==Overview== | ==Overview== | ||
CDH can present as small or large defects, both of which can be detected [[antenatally]] and present with varying symptoms depending on the size. Many neonates are initially stable for 24-48 hours, after which they experience [[Acute respiratory distress syndrome|acute respiratory distress]]. Some concerning | CDH can present as small or large defects, both of which can be detected [[antenatally]] and present with varying symptoms depending on the size. Many neonates are initially stable for 24-48 hours, after which they experience [[Acute respiratory distress syndrome|acute respiratory distress]]. Some concerning complications include [[tracheobronchomalacia]], [[pneumothorax]], [[Pulmonary hypertension|pulmonary hypertension]], [[Pulmonary infection|pulmonary infections]] and [[respiratory failure]]. Children often experience reduced exercise tolerance, [[stunted growth]] due to aversion to oral feeding, [[Gastroesophageal reflux disease|gastroesophageal reflux]] and anatomical chest deformities. Prognosis varies and is dependent on multiple factors. These include defect size, degree of [[pulmonary hypoplasia]], development of [[pulmonary hypertension]] and other factors like birth weight and gestational age at birth. Due to ongoing advances in neonatal care, survival rate is now greater than 60%-80%. | ||
==Natural History== | ==Natural History== | ||
CDH can be affected by a multitude of [[genetic]] syndromes and environmental factors. Approximately 2/3 cases of CDH can be detected [[antenatally]] and its presentation in the [[postnatal period]] largely depends upon the size of the defect. | CDH can be affected by a multitude of [[genetic]] syndromes and environmental factors. Approximately 2/3 cases of CDH can be detected [[antenatally]] and its presentation in the [[postnatal period]] largely depends upon the size of the defect. Smaller hernias often have a delayed presentation and are accompanied by [[Respiratory symptoms|mild respiratory symptoms]] and [[feeding difficulties]]. Comparatively, large defects present upon birth with [[decreased breath sounds]], [[displaced heart sounds]] as well as abdominal changes such as a [[scaphoid abdomen]].<ref name="pmid323105364">{{cite journal| author=| title=StatPearls | journal= | year= 2022 | volume= | issue= | pages= | pmid=32310536 | doi= | pmc= | url= }}</ref> | ||
==Complications== | ==Complications== | ||
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*[[Pulmonary infection]]; especially [[viral pneumonia]] and [[aspiration pneumonia]] | *[[Pulmonary infection]]; especially [[viral pneumonia]] and [[aspiration pneumonia]] | ||
*[[Respiratory failure]] | *[[Respiratory failure]] | ||
*Increased incidence of [[congenital heart disease]]<ref name="pmid28768736">{{cite journal| author=Kardon G, Ackerman KG, McCulley DJ, Shen Y, Wynn J, Shang L | display-authors=etal| title=Congenital diaphragmatic hernias: from genes to mechanisms to therapies. | journal=Dis Model Mech | year= 2017 | volume= 10 | issue= 8 | pages= 955-970 | pmid=28768736 | doi=10.1242/dmm.028365 | pmc=5560060 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28768736 }}</ref> | |||
*Reduced exercise tolerance | *Reduced exercise tolerance | ||
*[[Stunted growth]] due to aversion to oral feeding | *[[Stunted growth]] due to aversion to oral feeding | ||
*[[Gastroesophageal reflux disease|Gastroesophageal reflux]] <ref name="pmid32310536">{{cite journal| author=| title=StatPearls | journal= | year= 2022 | volume= | issue= | pages= | pmid=32310536 | doi= | pmc= | url= }}</ref> | *[[Gastroesophageal reflux disease|Gastroesophageal reflux]]<ref name="pmid32310536">{{cite journal| author=| title=StatPearls | journal= | year= 2022 | volume= | issue= | pages= | pmid=32310536 | doi= | pmc= | url= }}</ref> | ||
*Chest asymmetry, [[pectus excavatum]] and [[scoliosis]] following surgical repair of the chest wall | *Chest asymmetry, [[pectus excavatum]] and [[scoliosis]] following surgical repair of the chest wall | ||
*[[Sensorineural hearing loss]] <ref name="pmid323105362">{{cite journal| author=| title=StatPearls | journal= | year= 2022 | volume= | issue= | pages= | pmid=32310536 | doi= | pmc= | url= }}</ref> | *[[Sensorineural hearing loss]]<ref name="pmid323105362">{{cite journal| author=| title=StatPearls | journal= | year= 2022 | volume= | issue= | pages= | pmid=32310536 | doi= | pmc= | url= }}</ref> | ||
*Uncommon complications: [[bowel obstruction]], [[pectus excavatum]], varying degrees of [[scoliosis]], [[cryptorchidism]], [[vesicoureteral reflux]], and [[kidney stones]] <ref name="pmid8176602">{{cite journal| author=Lund DP, Mitchell J, Kharasch V, Quigley S, Kuehn M, Wilson JM| title=Congenital diaphragmatic hernia: the hidden morbidity. | journal=J Pediatr Surg | year= 1994 | volume= 29 | issue= 2 | pages= 258-62; discussion 262-4 | pmid=8176602 | doi=10.1016/0022-3468(94)90329-8 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8176602 }}</ref> | *Uncommon complications: [[bowel obstruction]], [[pectus excavatum]], varying degrees of [[scoliosis]], [[cryptorchidism]], [[vesicoureteral reflux]], and [[kidney stones]]<ref name="pmid8176602">{{cite journal| author=Lund DP, Mitchell J, Kharasch V, Quigley S, Kuehn M, Wilson JM| title=Congenital diaphragmatic hernia: the hidden morbidity. | journal=J Pediatr Surg | year= 1994 | volume= 29 | issue= 2 | pages= 258-62; discussion 262-4 | pmid=8176602 | doi=10.1016/0022-3468(94)90329-8 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8176602 }}</ref> | ||
==Prognosis== | ==Prognosis== | ||
A diaphragmatic hernia is a very serious disorder. The outcome of surgery depends on how well the baby's lungs have developed. Usually, the outlook is very good for infants who have enough lung tissue. Affected infants often require mechanical ventilation and oxygenation, followed by the use of diuretics after surgical correction. The use of oxygen and diuretics can be discontinued, often within the first two years of life.<ref name="pmid20301533" /> For children presenting with intermittent [[wheezing]], [[bronchodilators]] are required. Some children require continued nutritional supplements. With advances in neonatal and surgical care, survival is now greater than 60%-80%. Ventilation strategies have also contributed to this increased survival rate. Although survival rates have increased, affected patients | A diaphragmatic hernia is a very serious disorder. The outcome of surgery depends on how well the baby's lungs have developed. Usually, the outlook is very good for infants who have enough lung tissue. Affected infants often require mechanical ventilation and oxygenation, followed by the use of diuretics after surgical correction. The use of oxygen and diuretics can be discontinued, often within the first two years of life.<ref name="pmid20301533" /> For children presenting with intermittent [[wheezing]], [[bronchodilators]] are required. Some children require continued nutritional supplements. With advances in neonatal and surgical care, survival is now greater than 60%-80%. [[Ventilation (physiology)|Ventilation]] strategies have also contributed to this increased survival rate. Although survival rates have increased, affected patients continue to have an increased risk of long term complications due to which continuous follow up in required.<ref name="pmid24528549">{{cite journal| author=Leeuwen L, Fitzgerald DA| title=Congenital diaphragmatic hernia. | journal=J Paediatr Child Health | year= 2014 | volume= 50 | issue= 9 | pages= 667-73 | pmid=24528549 | doi=10.1111/jpc.12508 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24528549 }}</ref> | ||
Some important factors contributing to the prognosis include: <ref name="pmid323105363">{{cite journal| author=| title=StatPearls | journal= | year= 2022 | volume= | issue= | pages= | pmid=32310536 | doi= | pmc= | url= }}</ref> <ref name="pmid203015332">{{cite journal| author=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW | display-authors=etal| title=GeneReviews® | journal= | year= 1993 | volume= | issue= | pages= | pmid=20301533 | doi= | pmc= | url= }}</ref> <ref name="pmid23375362">{{cite journal| author=Wynn J, Krishnan U, Aspelund G, Zhang Y, Duong J, Stolar CJ | display-authors=etal| title=Outcomes of congenital diaphragmatic hernia in the modern era of management. | journal=J Pediatr | year= 2013 | volume= 163 | issue= 1 | pages= 114-9.e1 | pmid=23375362 | doi=10.1016/j.jpeds.2012.12.036 | pmc=3692597 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23375362 }}</ref> | Some important factors contributing to the prognosis include:<ref name="pmid323105363">{{cite journal| author=| title=StatPearls | journal= | year= 2022 | volume= | issue= | pages= | pmid=32310536 | doi= | pmc= | url= }}</ref><ref name="pmid203015332">{{cite journal| author=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW | display-authors=etal| title=GeneReviews® | journal= | year= 1993 | volume= | issue= | pages= | pmid=20301533 | doi= | pmc= | url= }}</ref><ref name="pmid23375362">{{cite journal| author=Wynn J, Krishnan U, Aspelund G, Zhang Y, Duong J, Stolar CJ | display-authors=etal| title=Outcomes of congenital diaphragmatic hernia in the modern era of management. | journal=J Pediatr | year= 2013 | volume= 163 | issue= 1 | pages= 114-9.e1 | pmid=23375362 | doi=10.1016/j.jpeds.2012.12.036 | pmc=3692597 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23375362 }}</ref> | ||
* | *Defect size | ||
* | *Degree of [[pulmonary hypoplasia]] | ||
* | *Development of [[pulmonary hypertension]]; this is often unresponsive to medical therapy | ||
* | *Isolated or complex defect; complex defects are associated with higher mortality rates | ||
* | *Presence of [[CVS malformations]] | ||
* | *Birth weight | ||
* | *Gestational age at birth | ||
* | *Need for oxygenation | ||
Proposed indicative methods include prenatal estimates of [[lung-to-head ratio]], [[observed/expected-total fetal lung volum]]<nowiki/>e, as well as [[liver herniation percentage]]. [[Liver herniation]] is associated with a poor prognosis. | Proposed indicative methods include prenatal estimates of [[lung-to-head ratio]], [[observed/expected-total fetal lung volum]]<nowiki/>e, as well as [[liver herniation percentage]]. [[Liver herniation]] is associated with a poor prognosis. | ||
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{{Reflist|2}} | {{Reflist|2}} | ||
[[Category:Gastroenterology]] | [[Category:Gastroenterology]] | ||
[[Category:Up to date]] | |||
Latest revision as of 14:26, 7 December 2022
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Arooj Naz, M.B.B.S
Overview
CDH can present as small or large defects, both of which can be detected antenatally and present with varying symptoms depending on the size. Many neonates are initially stable for 24-48 hours, after which they experience acute respiratory distress. Some concerning complications include tracheobronchomalacia, pneumothorax, pulmonary hypertension, pulmonary infections and respiratory failure. Children often experience reduced exercise tolerance, stunted growth due to aversion to oral feeding, gastroesophageal reflux and anatomical chest deformities. Prognosis varies and is dependent on multiple factors. These include defect size, degree of pulmonary hypoplasia, development of pulmonary hypertension and other factors like birth weight and gestational age at birth. Due to ongoing advances in neonatal care, survival rate is now greater than 60%-80%.
Natural History
CDH can be affected by a multitude of genetic syndromes and environmental factors. Approximately 2/3 cases of CDH can be detected antenatally and its presentation in the postnatal period largely depends upon the size of the defect. Smaller hernias often have a delayed presentation and are accompanied by mild respiratory symptoms and feeding difficulties. Comparatively, large defects present upon birth with decreased breath sounds, displaced heart sounds as well as abdominal changes such as a scaphoid abdomen.[1]
Complications
In many neonates, there is an initial period of 24-48 hours of stability after which acute respiratory distress develops. Pulmonary hypoplasia is a common complication amongst almost all affected children.[2] Major complications include:
- Tracheobronchomalacia
- Pneumothorax
- Pulmonary Hypertension
- Pulmonary infection; especially viral pneumonia and aspiration pneumonia
- Respiratory failure
- Increased incidence of congenital heart disease[3]
- Reduced exercise tolerance
- Stunted growth due to aversion to oral feeding
- Gastroesophageal reflux[4]
- Chest asymmetry, pectus excavatum and scoliosis following surgical repair of the chest wall
- Sensorineural hearing loss[5]
- Uncommon complications: bowel obstruction, pectus excavatum, varying degrees of scoliosis, cryptorchidism, vesicoureteral reflux, and kidney stones[6]
Prognosis
A diaphragmatic hernia is a very serious disorder. The outcome of surgery depends on how well the baby's lungs have developed. Usually, the outlook is very good for infants who have enough lung tissue. Affected infants often require mechanical ventilation and oxygenation, followed by the use of diuretics after surgical correction. The use of oxygen and diuretics can be discontinued, often within the first two years of life.[2] For children presenting with intermittent wheezing, bronchodilators are required. Some children require continued nutritional supplements. With advances in neonatal and surgical care, survival is now greater than 60%-80%. Ventilation strategies have also contributed to this increased survival rate. Although survival rates have increased, affected patients continue to have an increased risk of long term complications due to which continuous follow up in required.[7]
Some important factors contributing to the prognosis include:[8][9][10]
- Defect size
- Degree of pulmonary hypoplasia
- Development of pulmonary hypertension; this is often unresponsive to medical therapy
- Isolated or complex defect; complex defects are associated with higher mortality rates
- Presence of CVS malformations
- Birth weight
- Gestational age at birth
- Need for oxygenation
Proposed indicative methods include prenatal estimates of lung-to-head ratio, observed/expected-total fetal lung volume, as well as liver herniation percentage. Liver herniation is associated with a poor prognosis.
References
- ↑ "StatPearls". ( ). 2022: . PMID 32310536 Check
|pmid=value (help). - ↑ 2.0 2.1 Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW; et al. (1993). "GeneReviews®". ( ): . PMID 20301533.
- ↑ Kardon G, Ackerman KG, McCulley DJ, Shen Y, Wynn J, Shang L; et al. (2017). "Congenital diaphragmatic hernias: from genes to mechanisms to therapies". Dis Model Mech. 10 (8): 955–970. doi:10.1242/dmm.028365. PMC 5560060. PMID 28768736.
- ↑ "StatPearls". ( ). 2022: . PMID 32310536 Check
|pmid=value (help). - ↑ "StatPearls". ( ). 2022: . PMID 32310536 Check
|pmid=value (help). - ↑ Lund DP, Mitchell J, Kharasch V, Quigley S, Kuehn M, Wilson JM (1994). "Congenital diaphragmatic hernia: the hidden morbidity". J Pediatr Surg. 29 (2): 258–62, discussion 262-4. doi:10.1016/0022-3468(94)90329-8. PMID 8176602.
- ↑ Leeuwen L, Fitzgerald DA (2014). "Congenital diaphragmatic hernia". J Paediatr Child Health. 50 (9): 667–73. doi:10.1111/jpc.12508. PMID 24528549.
- ↑ "StatPearls". ( ). 2022: . PMID 32310536 Check
|pmid=value (help). - ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW; et al. (1993). "GeneReviews®". ( ): . PMID 20301533.
- ↑ Wynn J, Krishnan U, Aspelund G, Zhang Y, Duong J, Stolar CJ; et al. (2013). "Outcomes of congenital diaphragmatic hernia in the modern era of management". J Pediatr. 163 (1): 114–9.e1. doi:10.1016/j.jpeds.2012.12.036. PMC 3692597. PMID 23375362.