congenital diaphragmatic hernia -...

Congenital Diaphragmatic Congenital Diaphragmatic HerniaHernia

Weili Chang M.D. pgy2Weili Chang M.D. pgy2

IntroductionIntroductionIntroductionIntroduction

Developmental defect in the diaphragmDevelopmental defect in the diaphragm Developmental defect in the diaphragmDevelopmental defect in the diaphragm Abdominal visera herniate into chest Abdominal visera herniate into chest

during period of lung development whenduring period of lung development whenduring period of lung development when during period of lung development when bronchi and pulmonary arteries are bronchi and pulmonary arteries are undergoing branchingundergoing branchingundergoing branchingundergoing branching

Usually on the left (right sided about 11% Usually on the left (right sided about 11% ith i il bidit d t litith i il bidit d t litwith similar morbidity and mortality, with similar morbidity and mortality,

bilateral 2%)bilateral 2%)

AnatomyAnatomyAnatomyAnatomy

Defect usually posterolateral (BochdalekDefect usually posterolateral (Bochdalek Defect usually posterolateral (Bochdalek Defect usually posterolateral (Bochdalek hernia) hernia)

Can be anterior (Morgagni hernia)Can be anterior (Morgagni hernia) Can be anterior (Morgagni hernia)Can be anterior (Morgagni hernia) Rarely centralRarely central Failure of normal closure of Failure of normal closure of

pleuroperitoneal foldspleuroperitoneal folds

AnatomyAnatomyAnatomyAnatomy

Left side: stomach bowel possible liverLeft side: stomach bowel possible liver Left side: stomach, bowel, possible liver Left side: stomach, bowel, possible liver involvementinvolvement

Right side: liver and bowel involvementRight side: liver and bowel involvement Right side: liver and bowel involvementRight side: liver and bowel involvement

PathogenesisPathogenesisPathogenesisPathogenesis Defective migration of muscle and nerve cell Defective migration of muscle and nerve cell gg

precursors to the diaphragm during formationprecursors to the diaphragm during formation Diaphragm develops anteriorly as a septum Diaphragm develops anteriorly as a septum

between the heart and live and then growsbetween the heart and live and then growsbetween the heart and live and then grows between the heart and live and then grows posteriorlyposteriorly

Finial closure is at the left Bochdalek foramen Finial closure is at the left Bochdalek foramen between 8 and 10 weeks GAbetween 8 and 10 weeks GA

Bowel migrates from yolk sac to abdominal Bowel migrates from yolk sac to abdominal cavity at 10 weekscavity at 10 weekscavity at 10 weekscavity at 10 weeks

If bowel arrive before the foramen closes then If bowel arrive before the foramen closes then hernia can occurhernia can occur

IncidenceIncidenceIncidenceIncidence

1 in 2200 live births1 in 2200 live births 1 in 2200 live births1 in 2200 live births No association with genderNo association with gender

11% f i ht id d11% f i ht id d 11% of cases are right sided11% of cases are right sided 2% of cases are bilateral2% of cases are bilateral

EtiologyEtiologyEtiologyEtiology

Genetic (familial cases tend to be isolatedGenetic (familial cases tend to be isolated Genetic (familial cases tend to be isolated Genetic (familial cases tend to be isolated CDH without other anomalies and CDH without other anomalies and bilateral)bilateral)bilateral)bilateral)

SporadicSporadicVit i AVit i A Vitamin AVitamin A

RecurrenceRecurrenceRecurrenceRecurrence

In absence of family history risk ofIn absence of family history risk of In absence of family history risk of In absence of family history risk of recurrence for future sibling is about 2%recurrence for future sibling is about 2%

With family history there can be autosomalWith family history there can be autosomal With family history there can be autosomal With family history there can be autosomal recessive, dominant or xrecessive, dominant or x--linked inheritance linked inheritance patternpatternpatternpattern

Prenatal DiagnosisPrenatal DiagnosisPrenatal DiagnosisPrenatal Diagnosis

Sensitivity is higher when there areSensitivity is higher when there are Sensitivity is higher when there are Sensitivity is higher when there are associated abnormalities, higher GA, and associated abnormalities, higher GA, and experienced ultrasonographerexperienced ultrasonographerexperienced ultrasonographerexperienced ultrasonographer

Mean GA at diagnosis: 24 weeksMean GA at diagnosis: 24 weeks

Ultrasound FindingsUltrasound FindingsUltrasound FindingsUltrasound Findings

Left CDH: heterogeneous mass in chest,Left CDH: heterogeneous mass in chest, Left CDH: heterogeneous mass in chest, Left CDH: heterogeneous mass in chest, right mediastinal shift, fluid filled stomach right mediastinal shift, fluid filled stomach in chest, peristalsis of fluid filled bowel, in chest, peristalsis of fluid filled bowel, ppmay also have homogeneous mass may also have homogeneous mass continuous with intracontinuous with intra--abdominal liverabdominal liver

Right CDH: homogeneous mass (liver) in Right CDH: homogeneous mass (liver) in the right chest the right chest left mediastinal shift, left mediastinal shift, l l fl id b l t llbl dd il l fl id b l t llbl dd ipleural fluid, bowel present, gallbladder in pleural fluid, bowel present, gallbladder in

chest is diagnostic of right side CDHchest is diagnostic of right side CDH

Differential DiagnosisDifferential DiagnosisDifferential DiagnosisDifferential Diagnosis

DiaphragmaticDiaphragmatic eventrationeventration : less severe effects: less severe effects Diaphragmatic Diaphragmatic eventrationeventration : less severe effects : less severe effects on lung, rareon lung, rare

Congenital cystic Congenital cystic adenomatoidadenomatoid malformationmalformationg yg y BronchopulmonaryBronchopulmonary sequestrationsequestration BronchogenicBronchogenic cystscysts BronchogenicBronchogenic cystscysts Bronchial Bronchial atresiaatresia EntericEnteric cyctscycts Enteric Enteric cyctscycts TeratomasTeratomas

Associated AnomaliesAssociated AnomaliesAssociated AnomaliesAssociated Anomalies Associated anomalies seen in 25 to 57% but goes up to Associated anomalies seen in 25 to 57% but goes up to g pg p

95% with stillborn95% with stillborn Associated anomalies more common with bilateral Associated anomalies more common with bilateral CDHCDH Chromosomal anomalies: most common Chromosomal anomalies: most common trisomiestrisomies 21, 21,

18, and 1318, and 13 Stillborn anomalies: mostly neural tube defectsStillborn anomalies: mostly neural tube defects Stillborn anomalies: mostly neural tube defects Stillborn anomalies: mostly neural tube defects

(anencephaly, (anencephaly, myelomeningocelemyelomeningocele, hydrocephalus, , hydrocephalus, encephalocelesencephaloceles) and cardiac defects () and cardiac defects (VSDVSD, vascular , vascular ii t tit ti f th t )f th t )rings, rings, coarctationcoarctation of the aorta)of the aorta)

Midline anomalies: esophageal Midline anomalies: esophageal atresiaatresia, , omphaloceleomphalocele, , cleft palatecleft palatecleft palatecleft palate

Associated AnomaliesAssociated AnomaliesAssociated AnomaliesAssociated Anomalies

10%10% CDHCDH with associated anomalies havewith associated anomalies have 10% 10% CDHCDH with associated anomalies have with associated anomalies have underlying syndromeunderlying syndrome

FrynsFrynsyy ApertApert Killian/Killian/TeschlerTeschler--Nicola (Nicola (PallisterPallister--Killian)Killian) Killian/Killian/TeschlerTeschler Nicola (Nicola (PallisterPallister Killian)Killian) BrachmannBrachmann--De LangeDe Lange GoldenharGoldenhar sequencesequence GoldenharGoldenhar sequencesequence BechwithBechwith WidemannWidemann SimpsonSimpson GolabiGolabi BehmelBehmel SimpsonSimpson--GolabiGolabi--BehmelBehmel

Prognostic FactorsPrognostic FactorsPrognostic FactorsPrognostic Factors

KaryotypeKaryotype KaryotypeKaryotype Liver Liver herniationherniation

L t h d i f tiL t h d i f ti Lung area to head circumference ratioLung area to head circumference ratio Lung volumeLung volume Associated anomaliesAssociated anomalies

Prognostic Factor: Liver Prognostic Factor: Liver HerniationHerniation

Most reliable prenatal predictor of postnatal outcome of Most reliable prenatal predictor of postnatal outcome of p p pp p pleft left CDHCDH

Absence: good prognosis, survival of 93%Absence: good prognosis, survival of 93% Presence: 43% survivalPresence: 43% survival Ultrafast fetal MRI: most accurate tool to demonstrate Ultrafast fetal MRI: most accurate tool to demonstrate

liverliver herniationherniationliver liver herniationherniation Ultrasound with Doppler: visualize bowing of Ultrasound with Doppler: visualize bowing of ductusductus

venosisvenosis to the left of the midline or portal branches or to the left of the midline or portal branches or hepatic veins to the lateral segment of left lobe above hepatic veins to the lateral segment of left lobe above the diaphragm (ultrasound not as accurate as MRI)the diaphragm (ultrasound not as accurate as MRI)

stomach small bowel colon and one kidneystomach, small bowel, colon, and one kidney in the chest

Prognostic Factor: Lung Area to Prognostic Factor: Lung Area to Head Circumference RatioHead Circumference Ratio

Estimate ofEstimate of contralateralcontralateral lung size andlung size and Estimate of Estimate of contralateralcontralateral lung size and lung size and mediastinalmediastinal shift at the level of atria on shift at the level of atria on transverse scan of fetal thoraxtransverse scan of fetal thoraxtransverse scan of fetal thoraxtransverse scan of fetal thorax

With advances, now the ratio is more With advances, now the ratio is more indicative of morbidity rather than mortalityindicative of morbidity rather than mortalityindicative of morbidity rather than mortalityindicative of morbidity rather than mortality

Left Left CDHCDH: calculated using a two: calculated using a two--di i l di l lidi i l di l lidimensional perpendicular linear dimensional perpendicular linear measurement of right lung area divided by measurement of right lung area divided by h d i fh d i fhead circumferencehead circumference

Prognostic Factor: Fetal Prognostic Factor: Fetal Lung Lung VolumeVolume

No optimum equationNo optimum equation No optimum equationNo optimum equation Poor survival when fetal lung volume is Poor survival when fetal lung volume is

less than 30% of expected (measured byless than 30% of expected (measured byless than 30% of expected (measured by less than 30% of expected (measured by MRI)MRI)

Pulmonary HypoplasiaPulmonary HypoplasiaPulmonary HypoplasiaPulmonary Hypoplasia HerniationHerniation coincide with critical time of lung development coincide with critical time of lung development g pg p

(branching of bronchial and pulmonary artery)(branching of bronchial and pulmonary artery) Pulmonary Pulmonary hypoplasiahypoplasia is most sever on is most sever on ipsilateralipsilateral side of side of

CDHCDH b t lb t l t l t lt l t l ididCDHCDH but can also occur on but can also occur on contralateralcontralateral sideside Pressure and compression results in loss of pulmonary Pressure and compression results in loss of pulmonary

tissue and decreased bronchiolar branchingtissue and decreased bronchiolar branchingtissue and decreased bronchiolar branchingtissue and decreased bronchiolar branching Arterial branching also reduced but musculature of Arterial branching also reduced but musculature of

pulmonary arterials becomes hyperplasic (pulmonary pulmonary arterials becomes hyperplasic (pulmonary h t i )h t i )hypertension)hypertension)

Surfactant deficiencySurfactant deficiency

Obstetrical ManagementObstetrical ManagementObstetrical ManagementObstetrical Management MRI for liver herniationMRI for liver herniation Fetal echocardiographyFetal echocardiography KaryotypingKaryotyping Biweekly nonstress testing and BPP starting 33 to 34 Biweekly nonstress testing and BPP starting 33 to 34

weeks GAweeks GA Fetal ultrasound every two weeks starting 28 weeks ofFetal ultrasound every two weeks starting 28 weeks of Fetal ultrasound every two weeks starting 28 weeks of Fetal ultrasound every two weeks starting 28 weeks of

GA to assess fetal growth and amniotic fluid volumeGA to assess fetal growth and amniotic fluid volume Planned induction at 38 to 39 weeks at a center with Planned induction at 38 to 39 weeks at a center with

pedi surgery and neonatology services including ECMOpedi surgery and neonatology services including ECMO Antenatal steroids especially if expecting preterm Antenatal steroids especially if expecting preterm

d lid lideliverydelivery

Obstetrical ManagementObstetrical ManagementObstetrical ManagementObstetrical Management

InIn uteroutero repair with patch not supportedrepair with patch not supported In In uteroutero repair with patch not supportedrepair with patch not supported Fetal tracheal occlusion: obstructs normal Fetal tracheal occlusion: obstructs normal

egress of lung fluid, increasing egress of lung fluid, increasing transpulmonictranspulmonicg g , gg g , g pppressure pressure large fluid filled lungs to help with large fluid filled lungs to help with lung growth (lack of lung expansion 2 to 7 days lung growth (lack of lung expansion 2 to 7 days after tracheal occlusion is poor prognostic sign), after tracheal occlusion is poor prognostic sign), but there is increased rate of premature but there is increased rate of premature deliveries anddeliveries and NIHNIH study showed no survivalstudy showed no survivaldeliveries and deliveries and NIHNIH study showed no survival study showed no survival advantageadvantage

Clinical ManifestationsClinical ManifestationsClinical ManifestationsClinical Manifestations

Respiratory distressRespiratory distress Respiratory distressRespiratory distress BarrelBarrel--shaped chestshaped chest

S h idS h id bdbd ScaphoidScaphoid abdomenabdomen Absence of breath sounds and presence Absence of breath sounds and presence

of bowel soundsof bowel sounds Displaced heart soundsDisplaced heart soundspp

Neonatal ManagementNeonatal ManagementNeonatal ManagementNeonatal Management

Management of pulmonaryManagement of pulmonary HTNHTN andand hypoplasiahypoplasia Management of pulmonary Management of pulmonary HTNHTN and and hypoplasiahypoplasiafollowed by surgical repairfollowed by surgical repair

Immediately Immediately intubateintubate (avoid bag and mask and (avoid bag and mask and yy ( g( gblow by O2 as not to inflate the stomach)blow by O2 as not to inflate the stomach)

Ventilated with low PIP to minimized lung injuryVentilated with low PIP to minimized lung injuryg j yg j y NG tube to continuous suctionNG tube to continuous suction UACUAC and and UVCUVC (blood gas, blood pressure, fluids (blood gas, blood pressure, fluids U CU C a da d U CU C (b ood gas, b ood p essu e, u ds(b ood gas, b ood p essu e, u ds

and meds, and meds, UVCUVC may be difficult to position if may be difficult to position if there is liver there is liver herniationherniation))


Maintain arterial mean blood pressure toMaintain arterial mean blood pressure to Maintain arterial mean blood pressure to Maintain arterial mean blood pressure to minimized right to left shuntingminimized right to left shunting

CDH registry reported that surfactan does notCDH registry reported that surfactan does not CDH registry reported that surfactan does not CDH registry reported that surfactan does not improve outcome but use if less than 34 improve outcome but use if less than 34 weeks GAweeks GAweeks GA weeks GA

Pre and post ductal saturationsPre and post ductal saturations Use enough pressure to keep sats above 80Use enough pressure to keep sats above 80 Use enough pressure to keep sats above 80, Use enough pressure to keep sats above 80,

barotrauma to hypo plastic lung contributes to barotrauma to hypo plastic lung contributes to up to 25% of CDH deathsup to 25% of CDH deathsup to 25% of CDH deathsup to 25% of CDH deaths


PIP more than 28 can be used transiently as aPIP more than 28 can be used transiently as a PIP more than 28 can be used transiently as a PIP more than 28 can be used transiently as a bridge to ECMObridge to ECMO

PEEP should be maintained at 3 to 5PEEP should be maintained at 3 to 5 Hyperventilation, hypobaric and alkalosis may Hyperventilation, hypobaric and alkalosis may

decrease ductal shunting and control pulmonary decrease ductal shunting and control pulmonary g p yg p yHTN but can cause barotraumaHTN but can cause barotrauma

So far no randomized trial comparing HFOV to So far no randomized trial comparing HFOV to conventional, generally HFOV reserved for conventional, generally HFOV reserved for neonates who continue to have hypoxia and neonates who continue to have hypoxia and h b f t t ti l th b f t t ti l thypercube refractory to conventional venthypercube refractory to conventional vent

Neonatal ManagementNeonatal ManagementNeonatal ManagementNeonatal Management Paralysis and sedation to reduce air swallowingParalysis and sedation to reduce air swallowingy gy g Echo to assess cardiac anomalies and presence and Echo to assess cardiac anomalies and presence and

severity of pulmonary hypertension and shuntingseverity of pulmonary hypertension and shunting ECMO: some criteria include inability to maintain ECMO: some criteria include inability to maintain

predictably sats > 85%, PIP > 28 or MAP >15, predictably sats > 85%, PIP > 28 or MAP >15, hypotension resistant to fluid and isotropic, andhypotension resistant to fluid and isotropic, andhypotension resistant to fluid and isotropic, and hypotension resistant to fluid and isotropic, and inadequate O2 delivery with persistent metabolic inadequate O2 delivery with persistent metabolic acidosis, exclusion criteria vary but usually patient with acidosis, exclusion criteria vary but usually patient with lethal chromosomal abnormalities or severe intracraniallethal chromosomal abnormalities or severe intracraniallethal chromosomal abnormalities or severe intracranial lethal chromosomal abnormalities or severe intracranial hemorrhage are excludedhemorrhage are excluded


Surgery repair: usually with a patchSurgery repair: usually with a patch Surgery repair: usually with a patch, Surgery repair: usually with a patch, should be delayed until patient is stable should be delayed until patient is stable and post op care are arrangedand post op care are arrangedand post op care are arrangedand post op care are arranged

ComplicationsComplicationsComplicationsComplications

Recurrent pulmonaryRecurrent pulmonary HTNHTN Recurrent pulmonary Recurrent pulmonary HTNHTN Recurrent hernia (2Recurrent hernia (2--22% of all survivors, 22% of all survivors,

highest in ones requiring patch repair andhighest in ones requiring patch repair andhighest in ones requiring patch repair and highest in ones requiring patch repair and ECMOECMO))P t h l t d i f tiP t h l t d i f ti Patch related infectionsPatch related infections

GERDGERD FTTFTT IVHIVH IVHIVH

ReferencesReferencesReferencesReferences Pas, et al. Ventilation and Spontaneous Breathing at Birth of Infants with Congenital Diaphragmatic Hernia. Journal of Pas, et al. Ventilation and Spontaneous Breathing at Birth of Infants with Congenital Diaphragmatic Hernia. Journal of

Pediatrics 2008: 29: 369Pediatrics 2008: 29: 369-- 373373 Hedrick et al. Liver Hedrick et al. Liver positionapositiona ndnd lunglung--toto--head ratio for prediction of extracorporeal membrane oxygenation and survival in head ratio for prediction of extracorporeal membrane oxygenation and survival in

isolated left congenital diaphragmatic hernia. Am J of Obstetrics and Gynecology. 2007; 197: 422. e1 isolated left congenital diaphragmatic hernia. Am J of Obstetrics and Gynecology. 2007; 197: 422. e1 –– 422.e4.422.e4. JelinJelin et al. Tracheal Occlusion for Fetal Congenital Diaphragmatic Hernia: The US Experience. Clinical et al. Tracheal Occlusion for Fetal Congenital Diaphragmatic Hernia: The US Experience. Clinical PerinatologyPerinatology 36 36

(2009) 349(2009) 349--361.361. DeprestDeprest et al. Changing et al. Changing PrespectivesPrespectives on the on the PerinatalPerinatal Management of Isolated Congenital Diaphragmatic Hernia in Europe. Management of Isolated Congenital Diaphragmatic Hernia in Europe.

ClinialClinial PerinatologyPerinatology 36 (3009) 32936 (3009) 329--347347 Ng et al. Reduction in VentilatorNg et al. Reduction in Ventilator--induced Lung Injury Improves Outcome in Congenital Diaphragmatic Hernia? Pediatric induced Lung Injury Improves Outcome in Congenital Diaphragmatic Hernia? Pediatric

Surgery 2008:24: 145Surgery 2008:24: 145--50.50. SokolSokol et al. Fetal Pulmonary Artery Diameters and Their Association with Lung et al. Fetal Pulmonary Artery Diameters and Their Association with Lung HypoplasiaHypoplasia and Postnatal Outcome in and Postnatal Outcome in

Congenital Diaphragmatic Hernia. Am J Congenital Diaphragmatic Hernia. Am J ObstetObstet GynecolGynecol 2002; 186: 10852002; 186: 1085--9090S k lS k l t l F t l P l A t Di t M t P di t f M bidit it l F t l P l A t Di t M t P di t f M bidit i A t t llA t t ll Di d C it lDi d C it l SokolSokol et al. Fetal Pulmonary Artery Diameter Measurements as a Predictor of Morbidity in et al. Fetal Pulmonary Artery Diameter Measurements as a Predictor of Morbidity in AntenatallyAntenatally Diagnosed Congenital Diagnosed Congenital Diaphragmatic Hernia: a Prospective Study. Am J Diaphragmatic Hernia: a Prospective Study. Am J ObstetObstet GynecolGynecol 2006; 195: 4702006; 195: 470--77

RuanoRuano et al. Quantitative et al. Quantitative AnalyssAnalyss of Pulmonary Vasculature by 3Dof Pulmonary Vasculature by 3D-- Power Doppler Power Doppler UltrasonographyUltrasonography in Isolated Congenital in Isolated Congenital Diaphragmatic Hernia. Am J Diaphragmatic Hernia. Am J ObstetObstet GynecolGynecol 3006; 195: 17203006; 195: 1720--88

MorenoMoreno--Alvarez et al. Association Between Intrapulmonary Arterial Doppler Parameters and Degree of Lung Growth as Alvarez et al. Association Between Intrapulmonary Arterial Doppler Parameters and Degree of Lung Growth as Measured by the LungMeasured by the Lung--toto--head Ratio in Fetuses with Congenital Diaphragmatic Hernia. Ultrasoundhead Ratio in Fetuses with Congenital Diaphragmatic Hernia. Ultrasound ObstetObstet GynecolGynecol 2008;2008;Measured by the LungMeasured by the Lung toto head Ratio in Fetuses with Congenital Diaphragmatic Hernia. Ultrasound head Ratio in Fetuses with Congenital Diaphragmatic Hernia. Ultrasound ObstetObstet GynecolGynecol 2008; 2008; 31: 16431: 164--7070

MoyaMoya et al. Evidence Based Management of Infants with Congenital Diaphragmatic Hernia. et al. Evidence Based Management of Infants with Congenital Diaphragmatic Hernia. SeminSemin PerinatolPerinatol 2005; 29: 1122005; 29: 112--77 VitaliVitali. Bench. Bench--toto--bedside Review: Ventilator Strategies to Reduce Lung injurybedside Review: Ventilator Strategies to Reduce Lung injury-- Lessons From Pediatric and Neonatal Lessons From Pediatric and Neonatal

Intensive Care. Intensive Care. CritCrit Care 2005; 9: 177Care 2005; 9: 177--8383 Logan et al. Mechanical Ventilation Strategies in the Management of Congenital Diaphragmatic Hernia. Logan et al. Mechanical Ventilation Strategies in the Management of Congenital Diaphragmatic Hernia. SeminSemin PediatrPediatr SurgSurg

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