The heterotaxy syndrome: associated congenital heart defects and management


Heterotaxy syndrome (HS) constitutes a spectrum of anomalies arising from embryological errors that result in abnormalities of lateralization involving thoraco-abdominal viscera and culminate in loss of normal asymmetric arrangement of these organs. Besides the unique challenges involved in planning and execution of surgical procedures aimed at correction or palliation of these anomalies, they have the potential to cause profound physiological and immunological consequences in the individual patient due to their cardiac and extra-cardiac manifestations. This article aims to review the literature on this rare and extraordinary subset of developmental anomalies with the intention of familiarizing the reader on the modes of presentation, manifestations, and the variations thereof while dealing with this anomaly. In our institutional experience with HS, 75 consecutive patients were seen between January 2011 and September 2018. Of these, 48 (64%) were confirmed to have isomerism of right atrial appendages (IRAA) and the rest had isomerism of left atrial appendages (ILAA). The cardiac and extra-cardiac manifestations of these patients were listed out. Fifty-four patients (34 with IRAA and 20 with ILAA) underwent 83 surgical procedures. While 49 patients were palliated on the univentricular pathway, 5 underwent biventricular repair. The in-hospital mortality was 7 (13%) in both groups combined (5 for patients with IRAA and 2 for ILAA). In conclusion, the surgical management of HS is associated with satisfactory outcomes in current era.

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To summarize, HS is a generalized somatic laterality disorder characterized by abnormal arrangement of thoracic and abdominal viscera. It is associated with complex congenital cardiac malformations which are usually grouped as isomerism of right or left atrial appendages. Most of the cardiac anomalies associated with HS are managed by univentricular pathway, albeit some are amenable for biventricular repair; more so in patients with left atrial isomerism. Biventricular repair strategy provides excellent long-term functional outcome but with a higher incidence of reinterventions and reoperations. The results of univentricular palliation in this setting have improved due to thoughtful early preparation and careful conduct of modified Fontan procedure. Presence of obstructed TAPVC and significant atrioventricular valve incompetence has been associated with poor outcome in patients with single ventricle physiology and aggressive approach towards their repair is recommended.


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Agarwal, R., Varghese, R., Jesudian, V. et al. The heterotaxy syndrome: associated congenital heart defects and management. Indian J Thorac Cardiovasc Surg 37, 67–81 (2021).

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  • Heterotaxy syndrome
  • Right atrial isomerism
  • Left atrial isomerism
  • Single ventricle
  • Biventricular repair