Predictors of poor outcome among children with heterotaxy syndrome: a retrospective review

Abstract

ObjectiveTo determine predictors of poor outcome in patients with heterotaxy syndrome.MethodsA retrospective review of children with heterotaxy syndrome, in a single tertiary paediatric cardiology centre, was conducted between 1 January 1997 and 1 January 2014 to determine predictors of poor outcome. Poor outcome was defined as death, cardiac transplantation or New York Heart Association (NYHA) functional class III or IV.ResultsThere were 35 patients diagnosed with heterotaxy syndrome, 17 of whom were diagnosed antenatally. 22 patients had right atrial isomerism and 13 had left atrial isomerism. The median age of postnatal diagnosis was 2.5 days old (1 day to 19 months). 12 patients had a poor outcome; 6 patients died, 1 underwent cardiac transplantation and 5 had an NYHA functional class of >III. 5 patients had a biventricular repair and the remaining 30 had a univentricular repair. Type of atrial isomerism, univentricular or biventricular anatomy, severity of atrioventricular valve regurgitation or ventricular dysfunction, obstructed pulmonary venous return, occurrence of arrhythmia and presence of pulmonary atresia did not predict poor outcome. Fetal diagnosis also did not confer a survival advantage. The median duration of follow-up in this cohort was 65 months (2 days to 16.8 years).ConclusionsSurvival for patients with heterotaxy syndrome was 83% over a median follow-up of 65 months. 34% of patients had a poor outcome. None of the variables studied were predictive of death, transplantation or NYHA classification III or IV.

Noncompaction cardiomyopathy and heterotaxy syndrome

“…This study is also limited by collection of data from a single institution. Some frequent postoperative comorbidities linked to heterotaxy syndrome include arrhythmias, prolonged pleural effusions and re-operation [22,36,37]. Although LVNC and heterotaxy are recognized as disorders with a genetic etiology based on the heritability of their manifestations, potential genetic pathways responsible for their co-occurrence have not been investigated.…”

“…Cardiovascular malformations are commonly encountered in this condition due to abnormal heart looping during development [22,23]. The prevalence of heterotaxy in the general population has been reported as approximately 1 in 10,000 individuals [24].…”

Successful Palliation via Kawashima Procedure of an Infant With Heterotaxy Syndrome and Left-Atrial Isomerism

“…Heterotaxy syndrome is a condition of abnormal lateralization of organs across the body's left-right axis. 1,2 Establishment of asymmetric tissue differentiation is a unique feature of vertebrate embryogenesis and occurs early in embryonic development. 2,3 When asymmetric tissue differentiation fails, organ tissue usually specific to one-half of the body can be duplicated, while tissue from the other half can fail to develop.…”

“…4 The atrial septum will usually be affected, with a primum-type atrial septal defect, secundum-type atrial septal defect, or a completely absent septum. 1,2,4 The coronary sinus is often absent. 4,5 Two competing sinoatrial nodes are frequently seen.…”

“…2,4 Because of these atrial anomalies, pulmonary venous drainage is likely to be anomalous and obstructed. 1,4 A complete atrioventricular septal defect is usually present, and a double outlet right ventricle is also a common feature. 1,2,4 The inferior vena cava is usually in normal position with normal hepatic venous drainage.…”