Improved current era outcomes in patients with heterotaxy syndromes
ABSTRACT Patients with heterotaxy syndrome have a myriad of visceral and cardiac malformations historically resulting in significant morbidity and mortality. We sought to assess whether current era management strategies have improved outcomes in patients with visceral heterotaxy.
A retrospective review (1994-2008) of our database identified 45 consecutive heterotaxy patients who underwent surgical palliation. There were 29 patients with right atrial isomerism (RAI) and 16 patients with left atrial isomerism (LAI). Functional single ventricle was present in 32 patients. Pulmonary outflow obstruction was present in 29 of the patients. Twenty patients had total anomalous pulmonary venous return (TAPVR), of which 9 were obstructed. An initial neonatal surgical approach was performed in 27 patients. Thirty patients had systemic to pulmonary artery shunt. Mean follow-up was 43.6+/-47 months in RAI and 41.0+/-40.8 months in LAI patients (p=0.4).
There were three hospital deaths, all after the first operation, and four interstage deaths (six RAI; one LAI). There were no deaths after cavopulmonary shunt, Kawashima or Fontan operation. A multivariate Cox regression identified greater than moderate atrioventricular valve regurgitation (Hazard Ratio (HR) 17.5, p=0.017) and obstructed TAPVR (HR 17.5, p=0.007) as factors associated with increased RAI mortality. Due to the absence of late mortality in both groups, patient survival at 3 years were 79% in RAI and 94% in LAI patients and remained stable after that (p=0.22). All survivors but one are in NYHA class I or II, without significant cardiovascular related symptoms. LAI patients have a higher incidence of sinus node dysfunction than RAI patients (47% vs 12.5%, p=0.009).
Surgical outcomes in heterotaxy patients are improving in the current era. The risk for operative mortality and attrition is highest between the first and second stage palliation procedures. Significant atrioventricular valve regurgitation and obstructed TAPVR remain risk factors for RAI mortality. Survivors are doing well with no activity restrictions, although LAI patients maintain a higher proclivity of sinus node dysfunction.
[Show abstract] [Hide abstract]
ABSTRACT: Abstract Heterotaxy is a rare disease with high morbidity and mortality. Controversy exists over how to classify these syndromes with most cases stratified into asplenia/polysplenia syndromes or right/left isomerism. In an effort to comprehensively review specific pheonotypes associated with heterotaxy syndromes, we reviewed published cases series, adopted a classificatioin scheme based on spleen status, and retrospectively evaluated autopsy cases with abnormal laterality at our institution. We categorized 116 cases as situs inversus totalis, polysplenia, asplenia, and single right-sided spleen. Cardiovascular abnormalities occurred in 87.1% of polysplenia, 90.5% of asplenia, and all cases of single right-sided spleen. For polysplenia, 48.9% had bilateral bilobed lungs, 87% had right-sided stomach, 58.1% had midline symmetric liver, and 60.4% had malrotated intestines. For asplenia, 51.9% had bilateral trilobed lungs, 86.7% had right-sided stomach, 45.8% had symmetric liver, and 65.5% had malrotated intestines. Atrioventricular septal defects occurred in 91.2% of asplenia compared to 56.8% of polysplenia cases. Eight percent had pulmonary/aortic stenosis or atresia. Double outlet right ventricle was more common in polysplenia (32.6%) compared to asplenia (21.4%). Total anomalous systemic venous return was described in 55.6% of polysplenia and total anomalous pulmonary venous connections in 81% of asplenia cases. Greater than half of cases had no heterotaxy diagnosis. Although, we found similar heterotaxy associated characteristics, the frequencies differed from previous studies. We found great variation in how heterotaxy associated defects were described, diagnosed, and reported. Although, there are known associated characteristics with the polysplenia/asplenia syndromes, correct identification requires a standardized approach for diagnosis and reporting.Pediatric and Developmental Pathology 04/2014; 17(4). DOI:10.2350/13-11-1406-OA.1 · 0.86 Impact Factor
[Show abstract] [Hide abstract]
ABSTRACT: Patients with heterotaxy syndrome (HS) have a range of anomalies and outcomes. There are limited data on perinatal outcomes after prenatal diagnosis. To determine the factors influencing perinatal and infant outcomes, we analyzed prenatal and postnatal variables in fetuses with HS from 1995 to 2011. Of 154 fetuses with HS, 61 (40%) had asplenia syndrome (ASP) and 93 (60%) had polysplenia syndrome (PSP). In the ASP group, 22 (36%) patients were elected for termination of pregnancy, 4 (10%) had fetal death, and 35 of 39 (90%) continued pregnancies were live born. In the PSP group, 12 (13%) patients were elected for termination of pregnancy, 5 (6%) had fetal death (4 with bradyarrhythmia), and 76 of 81 (94%) continued pregnancies were live born. Bradyarrhythmia was the only predictor of fetal death. In the live-born ASP group, 43% (15 of 35) died, 7 because of pulmonary vein stenosis, 4 postoperatively, and 4 because of noncardiac causes. In the live-born PSP group, 13% (10 of 76) died, 5 postoperatively, 2 from bradyarrhythmia, 1 from a cardiac event, and 2 from noncardiac causes. Pulmonary vein stenosis and noncardiac anomalies were independent risk factors for postnatal death. Only 8% of ASP patients achieved biventricular circulation, compared with 65% of PSP patients. In the live-born cohort, the 5-year survival rate was 53% for ASP and 86% for PSP. In conclusion, most PSP patients are currently alive with biventricular circulation in contrast with few ASP patients. Bradyarrhythmia was the only predictor of fetal death. Pulmonary vein stenosis and noncardiac anomalies were predictors of postnatal death.The American Journal of Cardiology 06/2014; 114(4). DOI:10.1016/j.amjcard.2014.05.042 · 3.43 Impact Factor
[Show abstract] [Hide abstract]
ABSTRACT: Historic outcomes of patients with heterotaxy and pulmonary atresia or pulmonary stenosis (PA/PS) have been poor and in the current era are incompletely described. We reviewed our management of these patients and associated risk factors for death. We retrospectively reviewed the records of all patients with heterotaxy and PA/PS treated in our institution from January 1, 2002, to August 31, 2012. Death data were also confirmed with the Social Security Death Index. The log-rank test was done to assess six risk factors for death. We identified 42 patients with heterotaxy and PA/PS. Median age at the first operation was 6.5 days, and median follow-up was 3.5 years. Death data were complete for all patients. Overall mortality was 19% (8 of 42). The 30-day, 1-year, and 5-year mortality estimation was 4.76%, 12.3%, and 19.1% respectively, as determined by the Kaplan-Meier method. The log-rank test showed total anomalous pulmonary venous return (TAPVR) (p < 0.05) and obstructed TAPVR requiring an operation at less than 30 days (p = 0.001) were significant risk factors for death. In the current era, surgical treatment of heterotaxy and PA/PS can result in good outcomes. Associated TAPVR and obstructed TAPVR requiring neonatal correction were noted to be risk factors for death.The Annals of thoracic surgery 04/2014; 98(1). DOI:10.1016/j.athoracsur.2014.02.076 · 3.65 Impact Factor