1. Managing Malrotation in the Setting of Heterotaxy Syndrome
A Turn for the Worst
Managing Malrotation in the Setting of Heterotaxy Syndrome

2. Case Report
M.C. is a 3 week old female born to a Mother with insulin-dependent diabetes mellitus
She was diagnosed with complex congenital heart disease prenatally, including hypoplastic left heart, a hypoplastic transverse aortic arch with coarctation, and a large PDA
Additional anomalies include:
Bilateral SVCs without bridging vein
Interrupted IVC (inferior vena cava) with azygous continuation to the right SVC
Midline liver without biliary atresia
Polysplenia

4. Case Report
M.C. was initially admitted to the CCU; however, after undergoing a Norwood Procedure to address her cardiac defects, she became stable enough for transfer to the floor – although she continued to appear cyanotic, with saturations of 70-80% on 0.5L NC.
At this time, an Upper GI with SBFT was performed to assess for Intestinal Malrotation. M.C. was asymptomatic and advancing well with feeds. Pediatric General Surgery was consulted regarding the findings.

8. Intestinal Development
Initially, the embryonic gut is a straight tube that begins to develop during gestational week 5.
It herniates through the umbilical cord, returning to the abdomen around week 10, then becoming fixed to the retroperitoneum.
Intestines rotate counterclockwise around the axis of the Superior Mesenteric Artery.
In a normal individual, the root of the mesentery should extend from the duodeno-jejunal junction in the LUQ to the cecum in the RLQ. This broad base prevents twisting with subsequent vascular compromise.
Duodenal C-loop should cross the midline; duodeno-jejunal junction should occur left of the spine at level of or above gastric outlet.

9. Intestinal Development
Intestine
SMA
Filston HC and Kirks DR. Malrotation – the ubiquitous anomaly. Journal of Pediatric Surgery, 1981: 16: 614–20,

10. Intestinal Development
Retroperitoneal fixation
Filston HC and Kirks DR. Malrotation – the ubiquitous anomaly. Journal of Pediatric Surgery, 1981: 16: 614–20,

11. Malrotation
In malrotation, the right colon is abnormally positioned toward the left, leading to adhesion formation across the duodenum as the ascending colon attempts to fix to the retroperitoneum.
Lampl B, Levin TL, Berdon WE, Cowles RA. Malrotation and Midgut Volvulus: a historical review and current controversies in diagnosis and management. Pediatr Radiol. 2009
embryology.med.unsw.edu.au/Notes/git2.htm

12. Malrotation Varying Presentations:
Midgut Volvulus – intestinal rotation around mesenteric root
Acute: Severe bilious emesis and abdominal distention
Abdominal emergency due to risk of bowel ischemia
Long-term complication: Short bowel syndrome requiring constant parental nutrition
Reflux
Persistent poor feeding with nonbilious emesis
Malabsorption and failure to thrive
Chronic abdominal pain – often in older children
Postprandial distention
Colicky pain
Asymptomatic
May be discovered during work-up for other anomalies

13. Malrotation Ladd’s Procedure Detorsion of the bowel
Resection of any necrotic bowel
Lysis of Ladd’s bands
Placement of cecum to left, small bowel to the right to spread out mesenteric base
Appendectomy
Copyright: Elsevier

14. Case Revisited Questions that arise:
Asymptomatic 3 week old with heterotaxy syndrome and malrotation
Questions that arise:
What are the indications for Ladd’s Procedure in an asymptomatic patient?
What role, if any, should a diagnosis of heterotaxy play in the decision to operate?

15. Getting to the “Root” of the Problem
“Typical” vs “Atypical” Malrotation

16. “Typical” vs “Atypical” Malrotation
Mehall, Chandler, Mehall et al. reviewed records of 201 patients at Arkansas Children’s with malrotation between 1995 – 2000
Classification system: An attempt to categorize which patients with anomalies are more likely to have narrowing of the mesenteric root
Typical: Ligament of Treitz to right of midline or absent
Atypical variants
High: Left of midline and above 12th thoracic vertebra
Low: Left of midline and below 12th thoracic vertebra
Presentation:
Age at operation not significantly different between groups
Symptomatology was not significantly different; however, atypical variants were less likely to experience symptom resolution after Ladd’s procedure
Volvulus development:
Typical: 12 of 75 patients (5 with ischemic bowel; 2 resection; 1 died)
High: 1 of 45 (nonischemic)
Low: 1 of 56 (nonischemic)
Postoperative complications:
Typical: 13% of patients
High: 21%
Low: 22%

17. “Typical” vs “Atypical” Malrotation

18. “Typical” vs “Atypical” Malrotation
McVay, Kokoska, Jackson, et al. reviewed records of 275 patients at Arkansas Children’s with malrotation between 2000 – 2006
Classification system:
Typical: Ligament of Treitz to right of midline or absent
Atypical: LOT location to left of midline and below the pylorus
McVay MR, Kokoska ER, Jackson RJ, Smith SD. The changing spectrum of intestinal malrotation: diagnosis and management. Am J Surg. 2007

19. “Typical” vs “Atypical” Malrotation
Six of 36 patients who were observed eventually required operative correction due to abdominal pain. Five of 6 had partial duodenal obstruction from Ladd’s bands. The remaining patient developed symptoms with typical malrotation on repeat UGI with volvulus (nonischemic).

20. “Typical” vs “Atypical” Malrotation
McVay MR, Kokoska ER, Jackson RJ, Smith SD. The changing spectrum of intestinal malrotation: diagnosis and management. Am J Surg. 2007

21. “Typical” vs “Atypical” Malrotation
Summary Points:
Midgut Volvulus = Emergent repair
“Typical” Malrotation = Elective repair (semi-urgent)
“Atypical” with severe symptoms = Emergent/Urgent repair
“Atypical” with some symptoms = Elective repair
“Atypical” with no symptoms = Closely monitor (repeat UGI in several months)
Criticisms of this approach:
#1 In order to categorize correctly, diagnosis must be precise
UGI may be inconclusive; unable to visualize LOT
Position of cecum does not affect algorithm
Recommendation to repeat UGI (may also perform contrast enema)
#2 Other etiologies for displacement of LOT
Air distension of the stomach
Enteric feeding tubes
#3 Difficult to define symptoms in infants
Spitting up/Reflux very common in this age group; therefore, symptoms are not necessarily reliable way to stratify
Some argue that this is why ALL high-risk infants (i.e. heterotaxy) should be screened

22. And yet one more Twist… A Specific Look at Outcomes
in Patients with Heterotaxy Syndrome

23. Heterotaxy Syndrome

24. Heterotaxy Syndrome
Incidence of malrotation in heterotaxy has been estimated to be at least 40%
Historically, there has been concern that co-morbidities, especially cardiac defects would predispose to worse outcomes in surgical treatment of malrotation
However, advances in correction of cardiac defects have improved outcomes among children with heterotaxy – allowing for more opportunity to address the other anomalies associated with the syndrome

25. Heterotaxy Syndrome
Tashjian, Weeks, Brueckner et al from Yale reviewed records of 22 patients with heterotaxy who underwent Ladd’s Procedure between 1984 and 2004
All patients survived initial and secondary procedures
Three of 22 (14%) developed post-operative bowel obstruction
Four of 22 died more than one month following surgery, all from sequlae of their congenital heart disease
Conclusion: Because of the risk of volvulus, and inability to tolerate hemodynamic instability, an elective Ladd Procedure should be performed when cardiac condition is stabilized

26. Heterotaxy Syndrome
Yu, Thiagarajan, Laussen et al (Children’s Hospital Boston)
Retrospective review comparing outcomes between 31 HS and 51 Non-HS children with malrotation from (largest series of HS patients with malrotation)
Specifically evaluated surgical outcomes in patients with stable heart disease and diagnosed, but often asymptomatic, malrotation
Among those with HS who were symptomatic, 27% had midgut volvulus on exploration
No significant difference in hospital stay duration after Ladd’s Procedure, incidence of post-operative SBO, or mortality from surgery
All deaths among the patients with heterotaxy were attributable to congenital heart disease

27. Heterotaxy Syndrome
Yu DC, Thiagarajan RR, Laussen PC, et al. Outcomes after the Ladd procedure in patients with heterotaxy syndrome, congenital heart disease, and intestinal malrotation. J Pediatr Surg. 2009

28. Heterotaxy Syndrome
Yu DC, Thiagarajan RR, Laussen PC, et al. Outcomes after the Ladd procedure in patients with heterotaxy syndrome, congenital heart disease, and intestinal malrotation. J Pediatr Surg. 2009

29. Our Case Once Again…
M.C. remains an inpatient, managed by cardiology service
Abdominal XR following UGI showed residual contrast in appendix, which was located in her left midabdomen
She continues to feed well (at 65 cc q3 with binky training 5 times/day) without significant emesis
Concerns have been raised about her social situation as her mother had filed a restraining order against her father (resulting in CASPER alert here). Most recent social work note states that the family is reconciling.

30. Case Report

31. Summary
Due to narrowing of mesenteric root, intestinal malrotation can lead to the catastrophic complication of midgut volvulus
Symptomatic patients or those with “typical” malrotation on imaging should undergo Ladd’s Procedure
Asymptomatic patients with “atypical” malrotation may not have narrowing of mesenteric base – these patients may be managed by close monitoring, including repeat UGI
Among patients who undergo Ladd’s Procedure for malrotation due to heterotaxy syndrome, surgical outcomes are no worse than those without heterotaxy. Therefore, because of their cardiac disease and poor reserve, patients with heterotaxy may benefit even more from the timing of an elective repair when it can be assured that cardiac disease will be stabilized.
Future Opportunities: A prospective study evaluating outcomes in asymptomatic patients managed conservatively or surgically…

32. References
Choi M, Borenstein SH, Hornberger L, Langer JC. Heterotaxia syndrome: The role of screening for intestinal rotation abnormalities. Arch Dis Child Aug; 90(8):813-5.
Lampl B, Levin TL, Berdon WE, Cowles RA. Malrotation and Midgut Volvulus: a historical review and current controversies in diagnosis and management. Pediatr Radiol Apr; 39(4):
McVay MR, Kokoska ER, Jackson RJ, Smith SD. The changing spectrum of intestinal malrotation: diagnosis and management. Am J Surg Dec; 194(6):712-7.
Mehall JR, Chandler JC, Mehall RL, Jackson RJ, Wagner CW, Smith SD. Management of typical and atypical intestinal malrotation. J Pediatr Surg Aug; 37(8):
Tashjian DB, Weeks B, Brueckner M, Touloukian RJ. Outcomes after a Ladd procedure for intestinal malrotation with heterotaxia. J Pediatr Surg Mar; 42(3):
Yu DC, Thiagarajan RR, Laussen PC, Laussen JP, Jaksic T, Weldon CB. Outcomes after the Ladd procedure in patients with heterotaxy syndrome, congenital heart disease, and intestinal malrotation. J Pediatr Surg Jun; 44(6):