Jessica Moseley Seattle Children’s Hospital General Surgery, R1

Case B.C. Now 5w F with hx of heterotaxy syndrome (HS) and dextrocardia admitted for heart failure and desaturation. Consulted by cardiology at 4w for possible NEC.

History Prenatal diagnosis of HS and dextrocardia Born at OSH Transferred to SCH on DOL 1 Work-up in first week: Echo: complex congenital heart disease US: liver and kidneys situs solitus and WNL, small left- sided spleen Howell-Jolly bodies UGI: no intestinal rotation abnormality (IRA) Discharged to home at 1 week w/ OP f/u for planning of future cardiac procedures.

History, Cont’d Readmitted at 3 1/2 weeks for desaturations to high 70s, low 80s. R & L cardiac cath with balloon atrial septostomy Developed bloody stools, emesis, pneumatosis intestinalis on XR

Screening for IRA in HS UGI w/ or w/o SBFT, US, CT, contrast enema 65% of imaged HS patients had IRA (Ferdman) 15% false-positive rate for malrotation with UGI (Lampl) Recommended by 84% of physicians; only 75% screen as common practice at their institution (Pockett)

Elective Ladd’s Procedure in HS w/ asymptomatic IRA Controversy: Toronto vs. New Haven 52% of physicians would recommend elective Ladd’s to all HS w/ IRA patients Generally well-tolerated, but there are risks (Yu) 7 day hospital stay post-procedure (asymptomatic) vs. 10 days (symptomatic) ~10% hospital deaths (asymptomatic & symptomatic) ~10% SBO post-op (asymptomatic & symptomatic) 20-65% other post-op complications (mostly cardiac) 23% combined out-of-hospital mortality (mostly cardiac)

Problems Rates of IRA in HS high but rates of midgut volvulus low (Yu, Nehra) 65% of imaged patients had IRA 27% of symptomatic IRA had volvulus at surgery Timing Patients generally present w/in one month of birth (often w/in one week) Physicians more comfortable with waiting until stable Not all IRAs are equal Risks Prognosis – most patients will die of cardiac cause Lots of data on IRA outcomes from non-HS patients

Future Guidelines? Need evidence-based guidelines for management of HS patients with IRA Should weigh cardiac stability/prognosis, risk of midgut volvulus, and risk of post-op complications (including death) Possible scoring system based on anatomy, age, symptoms, heart defects, etc.? More research needed: Imaging, timing, correlation with anatomy and particular malrotation types, multi- institutional study of numbers and outcomes, incidence of volvulus in IRA

References 1. Yu DC, et al. Outcomes after the Ladd procedure in patients with heterotaxy syndrome, congenital heart disease, and intestinal malrotation. J Pediatr Surg 2009; 44: Nehra and Goldstein. Intestinal malrotation: varied clinical presentation from infancy through adulthood. Surgery 2011; 149: Ferdman B, et al. Abnormalities of intestinal rotation in patients with congenital heart disease and the heterotaxy syndrome. Congenit Heart Dis 2007; 2: Pockett CR, et al. Heterotaxy syndrome: is a prophylactic Ladd procedure necessary in asymptomatic patients? 5. Lampl B, et al. Malrotation and midgut volvulus: a historical review and current controversies in diagnosis and management. Pediatr Radiol 2009; 39: Biko DM, et al. Assessment of recurrent abdominal symptoms after Ladd procedure: clinical and radiographic correlation. J Pediatr Surg 2011; 46: