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

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

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.

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.

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

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

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

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

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

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?

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

“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%

“Typical” vs “Atypical” Malrotation

“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

“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).

“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

“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

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

Heterotaxy Syndrome

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

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

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 1997-2007 (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

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

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

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.

Case Report

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…

References Choi M, Borenstein SH, Hornberger L, Langer JC. Heterotaxia syndrome: The role of screening for intestinal rotation abnormalities. Arch Dis Child. 2005 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. 2009 Apr; 39(4):359- 66. McVay MR, Kokoska ER, Jackson RJ, Smith SD. The changing spectrum of intestinal malrotation: diagnosis and management. Am J Surg. 2007 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. 2002 Aug; 37(8):1169-72. Tashjian DB, Weeks B, Brueckner M, Touloukian RJ. Outcomes after a Ladd procedure for intestinal malrotation with heterotaxia. J Pediatr Surg. 2007 Mar; 42(3):528-31. 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. 2009 Jun; 44(6):1089-95.