Heterotaxy syndrome and abnormalities of intestinal rotation.

• Research type

  Research Study

• Full title

  Heterotaxy Syndrome and Abnormalities of Intestinal Rotation – A Retrospective Study

• IRAS ID

  170433

• Contact name

  Julene S. Carvalho

• Contact email

  J.Carvalho@rbht.nhs.uk

• Sponsor organisation

  St George's, University of London and St George's Healthcare NHS Trust

• Duration of Study in the UK

  0 years, 9 months, 31 days

• Research summary

  Heterotaxy syndrome refers to a group of abnormalities that involve an abnormal arrangement of organs along the right-left body axis. During embryogenesis, cardiac development is dependent on information about right-left position. Abnormal cardiac development is very common and major, complex congenital heart disease is often present in infants with Heterotaxy Syndrome. Thus, outcome for children with Heterotaxy Syndrome is often dictated by the severity and nature of cardiac defect.
  Abnormalities of intestinal development, rotation and fixation are also commonly seen in children with Heterotaxy Syndrome. Malrotation of the gut is the most worrisome intestinal abnormality as the bowel is predisposed to twist on itself, leading to bowel ischemia(deficiency on oxygen supply) and infarction(death of tissue). With advances in cardiac surgery, survival of children with cardiac abnormalities has improved. Additionally, with advances in prenatal diagnosis, more children with Heterotaxy Syndrome and less severe cardiac abnormalities or with a normal heart are being identified before birth. Particularly in the group with less severe cardiac defects, it is important to know how much the presence of gut abnormalities leading to symptoms/surgery can impact on morbidity and mortality in children with Heterotaxy Syndrome. The objective of this research project is to ascertain incidence of gut abnormalities in children with Heterotaxy Syndrome and outcome of any surgical intervention. We will review medical records of a cohort of patients known to have Heterotaxy Syndrome and we will also contact parents of children with Heterotaxy Syndrome to invite them to complete a standard questionnaire. Parents will be contacted by post or in person if the child is either an in-patient or is seen during an out-patient appointment.

• REC name

  South Central - Oxford C Research Ethics Committee

• REC reference

  15/SC/0504

• Date of REC Opinion

  14 Aug 2015

• REC opinion

  Favourable Opinion