Interventions on residual lesions in patients with heterotaxy syndrome following orthotropic heart transplantation: A single-center experience.

BACKGROUND: Heterotaxy syndrome (HS) is a defect in lateralization which often results in complex intra and extracardiac abnormalities. Orthotropic heart transplantation (OHT) in HS involves intricate and individualized modifications to surgical technique. Post-OHT outcomes are worse in patients with HS, however, the impact of post-OHT residual lesions has not yet been characterized. METHODS: Patients with HS who underwent OHT at Ann & Robert H. Lurie Children's Hospital of Chicago between January 2012 and June 2023 were identified. Patients were excluded if follow-up data was not available due to follow up at a different institution of early mortality. Pre-OHT clinical data, surgical data, and post-OHT surgical and catheterization data were collected. RESULTS: Two early mortalities were excluded from analysis, leaving 15 patients in the study cohort. Median age at OHT was 3.7 years (range: 0.7-15.4). Nine out of 15 patients were diagnosed with residual lesions requiring intervention at a median of 188 days post transplantation. All interventions on residual lesions occurred via catheterization. Overall mortality rate was 27% (4/15) with all deaths occurring in patients with residual lesions (4/9 patients, 44%). 83% (10/12) of lesions were diagnosed via catheterization, and 83% (10/12) of lesions of occurred in the first year after transplant. CONCLUSIONS: Patients with HS are at high risk for residual lesions after OHT, which may contribute to increased mortality. Comprehensive invasive diagnostics were required to diagnose residual lesions, which were all addressed percutaneously.

A rare combination: a single common pulmonary vein with polysplenia syndrome.

A single common pulmonary vein is a rare anomaly, mostly occurring with asplenia. We wanted to report our case because it co-exists with polysplenia and ciliary dyskinesia.A baby girl about 2 months old with respiratory arrest was admitted to the emergency room of our hospital. She responded to pulmonary resuscitation. We ascertained from her medical history that she had been hospitalised twice because of recurrent lung infections. After the initial check and treatment, we applied imaging modalities to detect underlying problems of recurrent lung infection. Echocardiographic evaluation was suboptimal because of the widespread pulmonary infiltration. Still, we noticed a single common pulmonary vein without obstruction at the junction of the left atrium. Subsequently, a chest CT scan with contrast was performed. It revealed a single common pulmonary vein entering the left atrium with a single orifice, atrial septal defect, two lobes in both lungs, hepatic veins draining directly into the right atrium, and polysplenia. When the flow of a single common pulmonary vein goes directly to the right atrium through the defect, it may cause right heart dilatation as it did in our case. Therefore, patients may need to undergo surgery at an earlier age.

Anomalous hepatic drainage and platypnea-orthodeoxia in cyanotic children.

The aetiology of cyanosis could be unclear in children, even for specialised paediatricians. Two cases were reported: first, a 6-year-old child with features of left isomerism and Fallot was fortuitously diagnosed with anomalous hepatic venous drainage before complete repair. Second, a newborn with an antenatal diagnosis of ductus venosus agenesis had an isolated intermittent right-to-left atrial shunt when upright, with favourable outcome, in contrast to the association with significant heart malformations including inferior caval vein interruption. Multimodality imaging and 3D printing helped to rule out extracardiac causes of persistent cyanosis and plan surgical repair.

Outcomes After Ladd Procedures for Intestinal Malrotation in Newborns with Heterotaxy Syndrome.

PURPOSE: Intestinal malrotation may be asymptomatic in patients with heterotaxy syndrome (HS), and whether these newborns benefit from prophylactic Ladd procedures is unknown. This study sought to uncover nationwide outcomes of newborns with HS receiving Ladd procedures. METHODS: Newborns with malrotation were identified from the Nationwide Readmission Database (2010-2014) and stratified into those with and without HS utilizing ICD-9CM codes for situs inversus (759.3), asplenia or polysplenia (759.0), and/or dextrocardia (746.87). Outcomes were analyzed using standard statistical tests. RESULTS: 4797 newborns with malrotation were identified, of which 16% had HS. Ladd procedures were performed in 70% overall and more common in those without heterotaxy (73% vs. 56% HS). Ladd procedures in newborns with heterotaxy were associated with higher complications compared to those without HS including surgical site reopening (8% vs. 1%), sepsis (9% vs. 2%), infections (19% vs. 11%), venous thrombosis (9% vs. 1%), and prolonged mechanical ventilation (39% vs. 22%), all p < 0.001. HS newborns were less frequently readmitted with bowel obstructions (0% vs. 4% without HS, p < 0.001) with no readmissions for volvulus in either group. CONCLUSION: Ladd procedures in newborns with heterotaxy were associated with increased complications and cost without differences in rates of volvulus and bowel obstruction on readmission. TYPE OF STUDY: Retrospective Comparative. LEVEL OF EVIDENCE: III.

Novel Diabolo Configuration of a Large Covered Stent to Treat Cyanosis Related to Pulmonary Arteriovenous Malformations.

Microvascular pulmonary arteriovenous malformations (pAVMs) can lead to profound hypoxemia. "Hepatic factor" is postulated to play a role in their development. Certain patients with congenital heart disease are at particular risk to develop pAVMs, including those with heterotaxy syndromes and complex Fontan palliation. Ideally, an underlying cause is identified and corrected, although pAVMs may persist despite those interventions. We report a patient with heterotaxy syndrome s/p Fontan who had pAVMs that persisted despite Fontan revision with equal hepatic flow to both lungs. We employed a novel method to produce a diabolo configuration of a large covered stent to restrict lung flow while maintaining the potential for future dilation.

Asymptomatic COVID-19 Reinfection in a Pediatric Patient with Heterotaxy Syndrome.

We report an asymptomatic child with heterotaxy syndrome who had recurrent positive SARS-CoV-2 polymerase chain reaction testing. An aberrant lymphocyte population expressing CD19, CD16, and CD56 was identified; its phenotyping revealing atypical NK cells. This subset's role in protection from severe disease or in reinfection cannot be ascertained.

HETEROTAXY SYNDROME IN COVID-19 PATIENT WITH PULMONARY EMBOLISM AND AORTIC ANEURYSM: A RARE ACCIDENTAL COMBINATION (RADIOLOGICAL ASSESSMENT). / GETEROTAKSIIa, TROMBOEMBOLIIa LEGENEVOÏ ARTERIÏ TA ANEVRYZMA AORTY: RIDKISNE VYPADKOVE POIeDNANNIa (RADIOLOGIChNA OTsINKA).

With limited time for analysing computed tomography (CT) data in medical emergencies, radiologists and clinicians are not always aware of congenital pathologies, especially in asymptomatic cases. We present a case report of heterotaxy syndrome detected incidentally in a 62-year-old female with massive pulmonary embolism, local saccular aneurysm of the aortic arch and COVID-19. The presented case describes an unusual combination of life-threatening conditions and congenital anomalies. Using the CT angiography, we reported the preserved topography and morphology of the heart chambers. The superior and inferior venae cavae were located on the left, draining into a significantly dilated coronary sinus. Disordered abdominal organ arrangement included midline liver, right-sided stomach, the central location of the short pancreas, malrotation of the intestine, polysplenia, and atypical rise of visceral branches of the abdominal aorta. A comprehensive assessment of CT images promoted verification of undiagnosed congenital anomalies. Prompt recognition of heterotaxy syndrome in life-threatening conditions significantly impacts treatment tactics and should be the course of diagnostic and cautious interventions to reduce further complications.

Successful biventricular repair in a 14-year-old patient of asplenia with congenital heart disease syndrome.

Heterotaxy syndrome is a rare disease, and asplenia with congenital heart disease syndrome, also known as Ivemark syndrome, is a special form of heterotaxy syndrome. These patients usually have severe cardiovascular malformations and a poor prognosis. Their surgical outcomes are rarely satisfactory. We report the case of a 14-year-old patient who underwent successful corrective surgery treatment.

National outcomes of the Fontan operation with endocardial cushion defect.

BACKGROUND: The traditional outcomes of the Fontan operation (FO) in endocardial cushion defect (ECD) patients have been suboptimal. Previous studies have been limited by the smaller number of ECD patients, longer study period with an era effect, and do not directly compare short-term outcomes of FO in ECD patients with non-ECD patients. Our study aims to address these shortcomings. METHODS: A retrospective analysis of the Kids Inpatient Database (2009, 2012, and 2016) for the FO was done. The groups were divided into those who underwent FO with ECD as compared to non-ECD diagnosis. The data were abstracted for demographics, clinical characteristics, and operative outcomes. Standard statistical tests were used. RESULTS: Three thousand three hundred eighty patients underwent the FO of which 360 patients (11%) were FO-ECD. ECD patients were more likely to have Down syndrome, Heterotaxy syndrome, transposition/DORV, and TAPVR as compared to non-ECD patients. FO-ECD had a higher discharge-mortality (2.84% vs. 0.45%, p = .04). The length of stay (16 vs. 13 days, p = .05) and total charges incurred ($283, 280 vs. $234, 106, p = .03) for the admission were higher in the FO-ECD as compared to non-ECD patients. In multivariable analysis, ECD diagnosis, cardiac arrest, acute kidney injury, and postoperative hemorrhage were predictors of mortality. CONCLUSION: Contemporary outcomes for FO are excellent with very low overall operative mortality. However, the outcomes in ECD patients are inferior with higher operative mortality than in non-ECD patients. The occurrence of postoperation complications and a diagnosis of ECD were predictive of a negative outcome.

Fontan Palliation in Patients with Heterotaxy Syndrome: A Five Decade Experience.

BACKGROUND: Patients with heterotaxy syndromes (right and left atrial isomerism) are at high risk of poor outcomes after single-ventricle palliation. However, the long-term outcomes and specific parameters associated with poor outcomes are incompletely understood. METHODS: A retrospective review was performed of all patients with atrial isomerism who had a Fontan at our institution from 1973 to 2020. Standard demographic, as well as pre-, peri-, and postoperative parameters were collected. Features and outcomes of patients with polysplenia were compared to asplenia. Outcomes were analyzed for effect during 4 eras: (1: 1973-1984; n = 27), (2: 1985-1994; n = 93), (3: 1995-2004; n = 28), and (4: 2005-2020; n = 10). RESULTS: Of the 1176 patients who had a Fontan operation, 158 (14%) had a heterotaxy syndrome. The median age at the time of Fontan was 8 (9) years. Early mortality was 20% and was greater in patients with asplenia compared to polysplenia (27% vs. 12%, p = .019). But it substantially improved over time (61% in era 1 vs. 7%-10% in the more recent eras (p < .001)), as did transplant-free survival (22% at 10 years in era 1 vs. 88% in era 4, p < .001). Transplant-free survival was significantly lower in patients with asplenia versus those with polysplenia (p = .014), and patients with heterotaxy had lower survival than nonheterotaxy (p = .01). This was largely due to the asplenia group (p < .001) (hazard ratio = 3.05, p = .007). CONCLUSIONS: After Fontan operation, patients with heterotaxy, particularly asplenia, continue to demonstrate worse transplant-free survival than nonheterotaxy patients. Early mortality and long-term transplant-free survival have improved in more recent eras.

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.

A case of ventricular noncompaction associated with heterotaxy and atrioventricular block diagnosed at 15 weeks of gestation using superb microvascular imaging.

We present a case of fetal atrioventricular block, heterotaxy, and ventricular noncompaction observed longitudinally from the first to early second trimesters using B-mode and Doppler imaging, including superb microvascular imaging. At 12 weeks of gestation, the atrial and ventricular rates were 133 and 67 beats/min, respectively, and dextrocardia was noted. At 15 weeks of gestation, detailed sonography revealed ventricular septal defect, interruption of the inferior vena cava, dilated azygos vein, and double-outlet right ventricle. In addition, superb microvascular imaging revealed irregular contours in the anatomical left ventricular wall, indicating prominent trabeculations of the ventricle, which were characteristic findings of ventricular noncompaction. At 21 weeks of gestation, intrauterine fetal death occurred, and the autopsy revealed complex congenital heart disease, including ventricular noncompaction.

Perioperative junctional ectopic tachycardia associated with congenital heart disease: risk factors and appropriate interventions.

The risk factors and the appropriate interventions for perioperative junctional ectopic tachycardia (JET) in congenital heart disease (CHD) surgery have not been sufficiently investigated despite the severity of this complication. This study aimed to examine the risk factors and interventions for perioperative JET. From 2013 to 2020, 1062 surgeries for CHD (median patient age: 4.3 years, range 0.0-53.0) with or without a cardiopulmonary bypass (CPB) were performed at Hokkaido University, Japan. We investigated the correlation between perioperative JET morbidity factors, such as age, genetic background, CPB/aortic cross-clamp (ACC) time, use of inotropes and dexmedetomidine, STAT score, and laboratory indices. The efficacy of JET therapies was also evaluated. Of the 1062 patients, 86 (8.1%) developed JET. The 30-day mortality was significantly high in JET groups (7% vs. 0.8%). The independent risk factors for JET included heterotaxy syndrome [odds ratio (OR) 4.83; 95% confidence interval (CI) 2.18-10.07], ACC time exceeding 90 min (OR 1.90; CI 1.27-2.39), and the use of 3 or more inotropes (OR 4.11; CI 3.02-5.60). The combination of anti-arrhythmic drugs and a temporary pacemaker was the most effective therapy for intractable JET. Perioperative JET after CHD surgery remains a common cause of mortality. Inotrope use was a risk factor for developing JET overall surgery risk. In short ACC surgeries, heterotaxy syndrome could increase the risk of JET, which could develop even without inotrope use in long ACC surgeries. It is crucial not to delay the treatment in cases with unstable hemodynamics caused by this arrhythmia. It is recommended to reduce numbers not dose of inotropes.

Diffuse hepatocellular carcinoma secondary to cardiac cirrhosis in heterotaxy syndrome.

Heterotaxy syndrome is a rare congenital defect of left-right laterality of major visceral organs, often categorised by the presence of symmetric left or right atrial heart chambers with a single effective ventricle. Known as left or right atrial isomerism, these conditions may present with a distinct pattern of extracardiac anomalies. Heterotaxy is often palliated with the Fontan procedure and is suggested to be subject to similar long-term sequelae of congestive hepatopathy and ischaemia, increasing the risk for hepatocellular carcinoma. Few works document primary, localised hepatocellular carcinoma in patients with heterotaxy syndrome. We present a case of diffuse, multifocal metastatic hepatocellular carcinoma in a young patient with left atrial isomerism and dextrocardia. We also review suggested guidelines of surveillance for liver disease and hepatocellular carcinoma in this patient population.

Cholangitis secondary to obstructive choledocholithiases in an elderly woman with heterotaxy syndrome with polysplenia: report of a case and brief review of the literature.

The present study aims to report a rare case of obstructive choledocholithiases found in an elderly female with heterotaxy syndrome (HS) with polysplenia, and to review the available literature on hepatobiliary pathologies associated with this syndrome. We present the case of an 82-year-old female patient with multiple comorbidities who presented to our hospital with abdominal pain and jaundice. An abdominal ultrasound and subsequent computed tomography showed several obstructive choledocholithiases. Incidentally, an abnormal visceral arrangement consistent with HS with polysplenia was observed, including midline liver, semi-annular pancreas, intestinal malrotation, preduodenal portal vein and other vascular anomalies. Accordingly, the patient was diagnosed with cholangitis secondary to obstructive choledocholithiases and HS with polysplenia. She was admitted to the hospital for endoscopic retrograde cholangiopancreatography after medical stabilization. Unfortunately, her condition rapidly worsened and died a few hours after hospitalization due to septic shock. Only one case of choledocholithiases in HS has been previously reported in the literature. It is unclear whether the abnormal arrangement of abdominal organs may have a significant role in the development of this complication. Although biliary drainage might be hindered in the presence of anatomical variants such as (semi-)annular pancreas, intestinal malrotation and preduodenal portal vein, further studies are needed to determine if there is an association between these anomalies and the development of choledocholithasis.

Stepwise Treatment for Heterotaxy Syndrome and Functional Single Ventricle Complicated by Infra-Cardiac Total Anomalous Pulmonary Venous Connection with Ductus Venosus Stent Placement and Subsequent Occlusion.

Even today, when the surgical outcome of congenital heart disease in the neonatal period has improved, the prognosis for heterotaxy syndrome and functional single ventricle complicated with total anomalous pulmonary venous connection (TAPVC), especially the infra-cardiac type, is catastrophic. We describe a strategy that combines percutaneous ductus venosus (DV) stent placement and occlusion after TAPVC repair to ensure survival from initial surgery to bidirectional cavopulmonary shunt (BCPS) procedure and facilitate subsequent treatment. Three consecutive patients with heterotaxy syndrome and functional single ventricle complicated by infra-cardiac TAPVC treated with our own strategy were retrospectively studied. In two infants, DV stent placement was performed on the day of birth. In one case at 11 days of age. The risk of pulmonary vein obstruction was reduced, and on-pump surgery, including TAPVC repair, was performed on a standby basis. Since the rapid increase in hepatic enzymes occurred on postoperative day 0 to 1 in all cases, percutaneous stent occlusion was performed until postoperative day 3. The procedure improved liver function. One patient died due to severe atrioventricular valve regurgitation, one case underwent BCPS, and one patient was waiting to undergo. DV stent placement can avoid TAPVC repair in the early neonatal period. After TAPVC repair, the portosystemic shunt remained, resulting in hepatic dysfunction, but this could be improved by stent and vertical vein occlusion. A series of stepwise treatments can be useful to help such critically ill infants survive the high-risk neonatal period and achieve good BCPS circulation.