Diaphragmatic Malformation

1. A R D I A N S Y A H
Cardiothoracic and Vascular Surgery Trainee
University of Indonesia

3. Patterson GA (ed.). Pearson's Thoracic and Esophageal Surgery 3rd edition. Philadelphia: Churchill Livingstone, 2008.

4. Congenital diaphragmatic
hernia (CDH)
Lost of continuity or
sometimes its normal
attachment to the costal
margin
Diaphragmatic
eventration (DE)
An abnormally thin and fibrous
diaphragm secondary to incomplete
development of a part or the totality of
muscular components (complete and
unbroken)
Kotecha S, Barbato A, Bush A, et al. Congenital Diaphragmatic Hernia. European Respiratory Journal.
2012;39(4):820-829. DOI: 10.1183/09031936.00066511

6. Incidence: 1 in 3000 to 5000 live births (live births vs. stillbirths)
40% of cases with associated anomalies
The presence of such associated anomalies worsens the prognosis very significantly,
with a mortality rate of almost 80%
Majority: isolated CDH with pulmonary hypoplasia and PPHN
• May not be secondary to a defect of muscularization but rather to a malformation of
the a-muscular mesenchymal components
• May have developed from a small congenital defect enlarging over time secondarily
to an increase in intra-abdominal pressure caused by physical exertion, childbirth,
obesity, and so on
• A traumatic cause is difficult to rule out
Different in pediatric and adult (more commonly on right side)

7. Chandrasekharan PK, Rawat M, Madappa R, Rothstein DH, Lakshminrusimha S. Congenital Diaphragmatic hernia - a review. Matern Health Neonatol Perinatol. 2017;3:6.
doi:10.1186/s40748-017-0045-1
Bochdalek
Failure development or fusion of
pleuroperitoneal membrane (occurs around
8th week of gestation)
Posterolateral portion
Left-sided in 90%
Contents of hernia:
• Left: stomach, spleen, colon
• Right: liver, kidney, omentum
Mostly do not have true hernia sac
Morgagni
Herniation occurs in sternocostal hiatus,
through which the superior epigastric vessels
pass from the abdomen to the retrosternal
area
Less common
More common on right side
Contain: mostly omentum; colon, small
bowel, stomach
All have sac

8. Chandrasekharan PK, Rawat M, Madappa R, Rothstein DH, Lakshminrusimha S. Congenital Diaphragmatic hernia - a review. Matern Health Neonatol Perinatol. 2017;3:6.
doi:10.1186/s40748-017-0045-1
Recent hypothesis:
• The initial insult occurs during the stages of
organogenesis resulting in bilateral hypoplasia,
followed by compression of the ipsilateral lung
secondary to the herniation of the abdominal
viscera at later stages
• Explains the variability of lung hypoplasia on the
contralateral side, decreased branching of the
bronchioles and pulmonary vessels leading to
acinar hypoplasia, decreased terminal
bronchioles with thickening of alveolar septa
• The lung is relatively immature, hypoplasia of
pulmonary vasculature leads to PPHN
Defective
diaphragmatic
muscle
Intra-abdominal
content  thoracic
cavity
Secondary
associated lung
hypoplasia

9. Reduced total
pulmonary
vascular bed,
decreased
number of
vessels per unit
of lung
• Altered
vasoreactivity,
impaired
endothelium-
dependent
relaxation of
PA, imbalance
between
vasoconstrictor
and vasodilator
mediators
• PAH, RVH/RVF,
left ventricular
hypoplasia with
PVH
PPHN:

10. Patterson GA (ed.). Pearson's Thoracic and Esophageal Surgery 3rd edition. Philadelphia: Churchill Livingstone, 2008.
Prenatal diagnosis using ultrasound, MRI
Prognostic factor: the ratio of contralateral lung
area to head circumference (LHR)
At birth  respiratory difficulties 
immediately intubated
Mask bagging is avoided because it increases
the distention of the herniated stomach and
intestine and therefore compromises the
ventilation even more
Stabilization of the patient and delayed surgical
repair is now the standard of care for newborns
with CDH
Gentle ventilation with permissive hypercapnia:
preductal SatO2 >85%, tolerating PaCO2 up to
60mmHg
Inhaled NO, HFOV, ECMO

11. Chandrasekharan PK, Rawat M, Madappa R,
Rothstein DH, Lakshminrusimha S. Congenital
Diaphragmatic hernia - a review. Matern Health
Neonatol Perinatol. 2017;3:6. doi:10.1186/s40748-017-
0045-1
Prenatal
Diagnostic
When? Can be visualized in first
trimester
Detects >50% at 24 weeks
Ultrasound Calculate O/E LHR, position
of liver (intra-abdominal or
intrathoracic)
Other associated anomalies?
Cardiac, renal, CNS, GI
Fetal MRI
Mortality significantly decreased with
advancing gestation; 25 – 36% at 37
weeks, 17 – 20% at 40 weeks

12. https://www.cincinnatichildrens.org/service/f/fetal-care/conditions/congenital-diaphragmatic-hernia/feto#:~:text=In%20a%20FETO%20procedure%2C%20between,block%20(occlude)%20the%20trachea.
For singleton pregnancy with
severe CDH, in anatomically and
chromosomally normal fetus
Procedure: balloon insertion to
occlude trachea
Fluid accumulation, pressure 
tissue stretch and lung growth
Between 27 – 31 weeks gestation
(26 – 28 weeks)
Remove after 4 – 6 weeks, or
during EXIT procedure
Risk: iatrogenic premature prelabor
with rupture of membrane

13. Canadian Congenital Diaphragmatic Hernia Collaborative, Puligandla PS, Skarsgard ED, et al. Diagnosis and management of congenital diaphragmatic hernia: a clinical practice guideline. CMAJ. 2018;190(4):E103-E112

14. Canadian Congenital Diaphragmatic Hernia Collaborative, Puligandla PS, Skarsgard ED, et al. Diagnosis and management of congenital diaphragmatic hernia: a clinical practice guideline. CMAJ. 2018;190(4):E103-E112

15. Canadian Congenital Diaphragmatic Hernia Collaborative, Puligandla PS, Skarsgard ED, et al. Diagnosis and management of congenital diaphragmatic hernia: a clinical practice guideline. CMAJ. 2018;190(4):E103-E112

16. LoCicero III, J (ed.). Shields’ General Thoracic Surgery 8th edition. Philadelphia: Wolters Kluwer, 2019.

17. Should be performed electively, after clinical stabilization
(similar for CDH EURO Consortium Group and Canadian
Congenital Diaphragmatic Hernia Collaborative)
The herniated viscera are returned to the abdomen, and, in
the rare case in which a hernia sac is present, it is excised
Any small diaphragmatic defect is closed with interrupted
nonabsorbable sutures
For larger diaphragmatic defects, or in complete absence of the
hemidiaphragm, a polytetrafluoroethylene (PTFE) membrane
is used and can sometimes be sutured to the ribs anteriorly and
posteriorly
Optimal surgical technique under debate: minimal vs open,
thoracotomy or laparotomy

19. Patterson GA (ed.). Pearson's Thoracic and Esophageal Surgery 3rd edition. Philadelphia: Churchill
Livingstone, 2008.
Diaphragmatic continuity is
present but the incomplete and
abnormal development of the
muscle leads to an inability to
contract normally
Incomplete migration of myoblasts
from cervical somites into
pleuroperitoneal membrane
CXR: the presence of a
hemidiaphragm at least two
intercostal spaces higher than on
the other side (may be difficult to
observe in ventilated patient)

20. Asymptomatic patients do not require treatment
• The noncontracting part of the diaphragm is folded in a mediolateral direction and
sutured with nonabsorbable sutures
• Care must be taken to avoid injury to the phrenic nerve, or to intra-abdominal
organs if the surgical approach is transthoracic
The aim of surgery is to plicate the hemidiaphragm in a flattened position two
intercostal spaces lower than its initial position
Abdominal approach: bilateral eventration, volvulus, previous cardiac surgery
Minimal invasive: thoracoscopy or laparoscopy

21. Patterson GA (ed.). Pearson's Thoracic and Esophageal Surgery 3rd edition. Philadelphia: Churchill Livingstone, 2008.
A
P
P
R
O
A
C
H
E
S
Thoracotomy
Laparotomy
Thoracoabdominal
Incision
VATS/Laparoscopy

22. Patterson GA (ed.). Pearson's Thoracic and Esophageal Surgery 3rd edition. Philadelphia: Churchill Livingstone, 2008.

23. Patterson GA (ed.). Pearson's Thoracic and
Esophageal Surgery 3rd edition. Philadelphia:
Churchill Livingstone, 2008.

25. Patterson GA (ed.). Pearson's Thoracic and Esophageal Surgery 3rd edition. Philadelphia: Churchill Livingstone, 2008.
Usually found incidentally on routine chest
radiographs in asymptomatic or mildly symptomatic
patients
Most cases of CDH diagnosed in adults are addressed
surgically
• Potential for catastrophic complications secondary to
organ volvulus and perforation
Abdominal approach preferred  complete
inspection of the abdominal organs that may have
been injured by incarceration, strangulation, or the
reduction procedure itself
The defect can sometimes be closed primarily without
tension, a polypropylene or polytetrafluoroethylene mesh
is typically used
• Severe dyspnea interfering with normal activities, orthopnea
• Gastrointestinal symptoms clearly related to the high position
of the diaphragm
Treated conservatively unless:
• Simple plication without opening the diaphragm
• Excision of a central ellipse of aponeurotic diaphragm
followed by double breasted suture
Operation: posterolateral approach
• Immobilize the diaphragm in a lower flat position
• Reduce its compression of the ipsilateral lung and
mediastinum
• Possibly to recover function if there is adequate residual
muscle under the costal arch
Objectives:

26. • Congenital diaphragmatic malformations include congenital diaphragmatic hernia (CDH) and
diaphragmatic eventration (DE). The eventrated diaphragm, which is an abnormally thin diaphragm,
results from an abnormal development of its muscular component. It must be differentiated from
diaphragmatic paralysis.
• The standard of care for newborns presenting with CDH is delayed surgical repair after that the patient
has been stabilized. During that time, nitric oxide, high-frequency jet ventilation, and extracorporeal
membrane oxygenation may be used.
• Surgery is rarely needed for DE in the pediatric population. It may be indicated in symptomatic patients or
when a large eventration will potentially interfere with postnatal lung growth.
• An elevated diaphragm in the adult population is attributed to congenital diaphragmatic malformation
only after other etiologies have been excluded. Indications for surgery in adults are rare and are almost
limited to previously unrecognized diaphragmatic hernias. Clinicians must be careful before
recommending diaphragmatic plication for respiratory or digestive symptoms thought to be related to
eventration..

27. Patterson, GA (ed.). Pearson's Thoracic and Esophageal Surgery 3rd edition. Philadelphia: Churchill Livingstone,
2008.
LoCicero III, J (ed.). Shields’ General Thoracic Surgery 8th edition. Philadelphia: Wolters Kluwer, 2019.
Canadian Congenital Diaphragmatic Hernia Collaborative, Puligandla PS, Skarsgard ED, et al. Diagnosis and
management of congenital diaphragmatic hernia: a clinical practice guideline. CMAJ. 2018;190(4):E103-
E112. doi:10.1503/cmaj.170206.
Snoek KG, Reiss IK, Greenough A, et al. Standardized Postnatal Management of Infants with Congenital
Diaphragmatic Hernia in Europe: The CDH EURO Consortium Consensus - 2015 Update. Neonatology.
2016;110(1):66-74. doi:10.1159/000444210
Kardon G, Ackerman KG, McCulley DJ, et al. Congenital Diaphragmatic Hernias: From Genes to Mechanisms to
Therapies. Disease Models & Mechanisms. 2017;10:955-970. doi:10.1242/dmm.028365
Chandrasekharan PK, Rawat M, Madappa R, Rothstein DH, Lakshminrusimha S. Congenital Diaphragmatic hernia - a
review. Matern Health Neonatol Perinatol. 2017;3:6. doi:10.1186/s40748-017-0045-1