Clinical Implications of Airway Anomalies and Stenosis in Patients with Heterotaxy Syndrome

In heterotaxy syndrome, bronchopulmonary situs usually reflects atrial situs, resulting in either right (RAI) or left atrial isomerism (LAI). This study determines airway anomalies and its implications in patients with heterotaxy. This retrospective study included 223 patients with heterotaxy syndrome who received an integrated cardiac computed tomography evaluation. Patient database from 1995 to 2020 was reviewed. The patients were examined by a congenital heart disease team comprising pediatric cardiologists, radiologists, pulmonologists, and cardiovascular surgeons. Among the 223 patients, 189 (84.8%, M/F=1.66) had RAI and 29 had LAI (13.0%, M/F=0.71). Five patients had indeterminate isomerism (2.2%, M/F=1.5). Discordant bronchopulmonary and atrial situs occurred in 4% patients, while discordant bronchopulmonary, atrial, and splenic situs occurred in 23.2% patients. Lower airway stenosis was observed in 61 patients (27.4%), including 27.5%, 20.7%, and 60% RAI, LAI, and indeterminate isomerism patients, respectively (p=0.189). One patient had an intrinsic long segment lower tracheal stenosis and received slide tracheoplasty. Initial cardiac operation was performed in 213 patients. Higher surgical mortality occurred in patients with RAI (19.5% vs. none for LAI and indeterminate isomerism, p=0.038). In patients with RAI, lower airway anomaly/stenosis increased the duration of ventilator usage (p=0.030) but did not affect surgical mortality. Total anomalous pulmonary venous return to systemic veins and pulmonary venous stenosis were major surgical risk factors. Bronchopulmonary isomerism shares a similar isomeric pattern to cardiac atrial appendage. Lower airway anomalies/stenosis was common in patients with heterotaxy, resulting in prolonged ventilator therapy in patients with RAI.

Analysis of outcomes in patients with abnormal laterality undergoing congenital heart surgery

Objective: Laterality anomalies are almost always associated with severe cardiac anomalies. Demographic properties, type of the procedures, associated anomalies, and early and mid-term prognosis of four types of laterality anomalies were analysed. Methods: A total of 64 consecutive patients with laterality anomalies were enrolled between July 2014 and July 2020. We grouped the patients as situs solitus dextrocardia (SSD) (n = 12; 18.7%); situs inversus (SI) (n = 16; 25%); right atrial isomerism (RAI) (n = 29; 45.3%); and left atrial isomerism (LAI) (n = 7; 10.9%). TAPVC was only present in the RAI group (31%). Incidence of mitral or tricuspid atresia was higher in the SSD group (25%). All the patients were followed up with a mean of 19.06 ± 17.6 (0.1–72) months. Results: Early postoperative mortality was 17 patients, among 107 procedures (15.8%). Twelve patients were in the neonatal period. All ten patients survived after isolated ductal stenting. Fourteen of the deaths were in the RAI group (48.3%). The 3-year survival rates were 85% in LAI, 78.7% in SI, 55.8% in SSD, and 38% in RAI groups. According to the multivariable Cox regression model, mechanical ventilation, kidney injury, RAI, and complex surgery in the neonatal period were independent risk factors for early mortality. Conclusion: Laterality anomalies are one of the most challenging patients who commonly had univentricular physiology. The most prevalent anomaly was RAI, and RAI had the worst outcome and survival. Ductal stent is an acceptable first intervention during the neonatal period in suitable patients. Complex procedures may carry a high risk of death in the neonatal period.

BIDIRECTIONAL GLENN SHUNT AND REPAIR OF TOTAL ANOMALOUS PULMONARY VENOUS CONNECTION IN A 3 YEARS OLD CHILD WITH HETEROTAXY SYNDROME: A CASE REPORT

Right Atrial Isomerism (RAI) and total anomalous pulmonary venous connection (TAPVC) is a rare condition with very high mortality in neonatal period, but outcomes may be better in older children. A cyanotic 3 years old boy with dyspnea and growth retardation diagnosed with RAI and supracardiac type of TAPVC undergone a successful repair of TAPVC and simultaneous Glenn shunt. Older patients with RAI may be a distinct, more suitable group for surgical repair.

Outcomes of the Surgical Management of Atrial Isomerism and Functional Single Ventricle: A Single-Centered Cohort From China

Objectives: The management of atrial isomerism with complex congenital heart disease remains challenging. Experience has been largely obtained in advanced countries. The clinical diversity is greater in China. We evaluated the early- and medium-term outcomes of surgical treatment of these patients.Methods: We reviewed 86 patients of atrial isomerism with complex congenital heart disease undergoing varied surgeries in our center in 2008–2020. Cox regression models were used to analyze the risk factors for mortality.Results: There were 75 cases of right and 11 of left atrial isomerism. Eighty-three (96.5%) patients underwent single-ventricle staged palliation approach, with 10 early and 7 late deaths. The overall 1-, 5-, and 10-year survival rates were 84.7, 79.3, and 79.3%, respectively. Thirty-six (43.4%) patients completed the Fontan procedure with median age of 48 months and freedom from death or Fontan failure at 1-, 5-, and 8-years were 94.4, 87.4, and 80.7%, respectively. Concomitant total anomalous pulmonary venous connection [hazard ratio (HR): 5.15 (1.95–12.94), p = 0.008], more than moderate atrioventricular valve regurgitation [HR: 4.82 (2.42–6.79), p = 0.003], and the need for first-stage palliative surgery [HR: 4.58 (1.64–10.76), p = 0.015] were independent risk factors for mortality.Conclusions: Despite even greater clinical diversity, the surgical outcomes of atrial isomerism with complex congenital heart disease are improving in China. The early and intermediate outcomes are comparable to many previous reports. Concomitant total anomalous pulmonary venous connection, moderate or severe atrioventricular valve regurgitation, and the need for a first-stage palliative surgery are still independent risk factors for mortality.

Impact of gastrointestinal comorbidities in patients with right and left atrial isomerism

Background and aim: Heterotaxy syndrome, being right atrial isomerism (RAI) or left atrial isomerism (LAI), often presents with Congenital Heart Disease (CHD). Intestinal abnormalities, including malrotation are common. We assessed the spectrum of gut abnormalities and their impact on medium-term outcome in a cohort of patients with fetal and postnatal diagnoses of heterotaxy syndrome. Methods: We reviewed the cardiology records of heterotaxy syndrome patients from two centres, regarding the presence of CHD, time for cardiac intervention, presence of gastrointestinal abnormalities, and type/time of surgery. A questionnaire about gastrointestinal status was sent to patients <18 years old. Kaplan–Meier curves were derived for survival data and freedom from intervention. Results: Data were included for 182 patients (49 RAI and 133 LAI) of 247 identified. Questionnaires were sent to 77 families and 47 replied. CHD was present in all RAI and 61.7% of LAI cases. Thirty-eight patients had abdominal surgery (20.9%), similar for RAI and LAI (20.4% versus 21%, p> 0.99): Ladd procedure in 17 (44.7%), non-Ladd in 12 (31.5%), and both procedures in 9 (23.7%). Ten-year freedom from Ladd procedure for all was 86% for the whole cohort (RAI = 87%; LAI = 85%, p = 0.98). Freedom from any gastrointestinal surgery at 10 years was 79% for the whole cohort (RAI = 77%; LAI = 80%, p = 0.54). Ten-year freedom from cardiac surgery was 31% for the whole cohort (RAI = 6%; LAI = 43%, p < 0.0001). Conclusions: In our cohort, one in five patients required abdominal surgery, mostly in their first year of life, similar for RAI and LAI. Between 1 and 10 years of follow-up, the impact of gastrointestinal abnormalities on outcome was minimal. Medium term survival was related to CHD.

Balloon atrial septostomy through azygos vein in two cases of D-TGA with left atrial isomerism

Balloon atrial septostomy is a palliative procedure that is performed in D-transposition of great arteries when surgery is not immediately available. Although D-TGA and left isomerism association are rare, it is an important condition as the BAS procedure approach is unique. In this case report, we present two cases of D-TGA with left isomerism where BAS was performed due to restrictive atrial septal defect and lack of immediate availability of the paediatric cardiac surgeon.

Complicated acute appendicitis in a child with left atrial isomerism: a case report

Background Heterotaxy syndrome is a rare clinical entity that is characterized by abnormal visceral organ arrangement in the chest and abdomen. Left atrial isomerism is a subcategory of heterotaxy syndrome characterized by the presence of multiple spleens with or without cardiac anomalies. Patients may remain asymptomatic their whole lives until they are diagnosed incidentally. Given that patients with left atrial isomerism might demonstrate atypical presentations of acute intrabdominal pathologies, it is important to keep a high index of suspicion when encountering such cases. Case presentation In this report, we present a case of a 9-year-old boy with a known history of left atrial isomersim who presented with left lower quadrant pain and positive McBurney, psoas, and obturator signs on the left side. A computed tomography scan of the abdomen confirmed the diagnosis of perforated acute appendicitis on the left, which prompted an emergent laparoscopic appendectomy. Conclusion Our case highlights the importance of keeping a high index of suspicion for a heterotaxy syndrome that is complicated by acute appendicitis in pediatric patients presenting with vague abdominal pain. Planning the location of trocar placement in patients with situs anomalies is of paramount importance to avoid technical difficulties in laparoscopic procedures.