Adult Female Patient with Untreated Truncus Arteriosus Type I and Torsion of Small Bowel Gastrointestinal Stromal Tumor: A Rare Case Report.

BACKGROUND Persistent truncus arteriosus is a rare congenital cyanotic heart defect characterized by a single ventricular outflow tract. Without surgical intervention, it has a poor prognosis in infancy. Here, we report an adult female patient with uncorrected truncus arteriosus type I, who presented with acute-onset abdominal pain due to torsion of a small bowel gastrointestinal stromal tumor (GIST). CASE REPORT A 41-year-old woman came to our Emergency Department with acute-onset lower abdominal pain for 2 days. Congenital heart disease, truncus arteriosus, had been diagnosed at birth, and there had been no surgical intervention. Abdominal computed tomography revealed a 10×9×12-cm mixed-density mass in the pelvic capacity. Transthoracic echocardiography revealed a 33-mm ventricular septal defect. The ascending aorta originated mainly from the right ventricle, and the pulmonary artery originated from the beginning of the aorta (type I truncus arteriosus, according to Collett and Edwards classification). After a quick and detailed preoperative workup, the patient underwent tumor resection by open surgery with general anesthesia. CONCLUSIONS This is the first case to report emergency surgery for a patient with uncorrected persistent truncus arteriosus due to torsion of a small bowel GIST. A multidisciplinary team with deep understanding of the disease entity was crucial. By considering the fixed hemodynamic and respiratory physiology, overtreatment and unrealistic goals were avoided. Eventually, the patient was discharged after being hospitalized for 2 weeks.

Clinical Presentation and Therapy of Truncus Arteriosus.

Truncus arteriosus (TA, also known as common arterial trunk) consists of only one great artery ("the truncus") with a semilunar valve (truncus valve) arising from the heart and an additional ventricular septal defect and (Fig. 50.1). This great artery is positioned above the ventricular septal defect and gives rise to the coronary arteries, the pulmonary arteries, and the aortic arch. Historically, TA has been classified by Collet and Edwards in three types, where in type I there was a common pulmonary artery truncus, in type II the left and right PA arise separately but close to each other, in type III both PA arise independently; in addition, there was a type IV that was later characterized as pulmonary atresia with VSD and major aortopulmonary collateral arteries arising from the descending aorta.

Successful Late Repair of Truncus Arteriosus: A Single Center Experience.

Background: Truncus arteriosus is a rare congenital heart defect resulting from the failure of the truncus arteriosus to divide during fetal development. It leads to a single outflow tract from the heart and, if left untreated, can be fatal. Late presentation and repair can also increase the risk of pulmonary hypertensive crises, which can lead to morbidity and mortality after repair. Methods: We performed a retrospective study examining outcomes of late-presenting patients who were repaired for this anomaly at our institution. Results: We identified seven patients who underwent late repair of truncus arteriosus who were 3 to 11 years of age. There were six females and one male. Postoperatively, all patients showed improvement in symptoms and hemodynamic parameters, with no reported mortality. The median duration of stay in the intensive care unit was nine days and with a range from 3 to 18 days, while the median hospital stay was 29 days with a range from 21 to 60 days. Conclusion: These findings highlight the potential for successful outcomes even in cases of delayed diagnosis.

Partial Heart Transplant in a Neonate With Irreparable Truncal Valve Dysfunction.

Importance: The treatment of neonates with irreparable heart valve dysfunction remains an unsolved problem because there are no heart valve implants that grow. Therefore, neonates with heart valve implants are committed to recurrent implant exchanges until an adult-sized valve can fit. Objective: To deliver the first heart valve implant that grows. Design, Setting, and Participants: Case report from a pediatric referral center, with follow-up for more than 1 year. Participants were a recipient neonate with persistent truncus arteriosus and irreparable truncal valve dysfunction and a donor neonate with hypoxic-ischemic brain injury. Intervention: First-in-human transplant of the part of the heart containing the aortic and pulmonary valves. Main Outcomes and Measures: Transplanted valve growth and hemodynamic function. Results: Echocardiography demonstrated adaptive growth and excellent hemodynamic function of the partial heart transplant valves. Conclusions and Relevance: In this child, partial heart transplant delivered growing heart valve implants with a good outcome at age 1 year. Partial heart transplants may improve the treatment of neonates with irreparable heart valve dysfunction.

Survival After Single-Stage Repair of Truncus Arteriosus and Associated Defects.

BACKGROUND: The goal of this study was to describe in-hospital and long-term mortality after single-stage repair of truncus arteriosus communis (TAC) and explore factors associated with these outcomes. METHODS: This was a cohort study of consecutive patients undergoing single-stage TAC repair between 1982 and 2011 reported to the Pediatric Cardiac Care Consortium registry. In-hospital mortality was obtained for the entire cohort from registry records. Long-term mortality was obtained for patients with available identifiers by matching with the National Death Index through 2020. Kaplan-Meier survival estimates were created for up to 30 years after discharge. Cox regression models estimated hazard ratios for the associations with potential risk factors. RESULTS: A total of 647 patients (51% male) underwent single-stage TAC repair at a median age of 18 days; 53% had type I TAC, 13% had interrupted aortic arch, and 10% underwent concomitant truncal valve surgery. Of these, 486 (75%) patients survived to hospital discharge. After discharge, 215 patients had identifiers for tracking long-term outcomes; 30-year survival was 78%. Concomitant truncal valve surgery at the index procedure was associated with increased in-hospital and 30-year mortality. Concomitant interrupted aortic arch repair was not associated with increased in-hospital or 30-year mortality. CONCLUSIONS: Concomitant truncal valve surgery but not interrupted aortic arch was associated with higher in-hospital and long-term mortality. Careful consideration of the need and timing for truncal valve intervention may improve TAC outcomes.

Patent ductus arteriosus stenting as therapeutic bridge in a patient with type A3 truncus arteriosus variant with multiple comorbidities.

Type A3 truncus arteriosus describes pulmonary atresia with non-confluent mediastinal pulmonary arteries in which one pulmonary artery arises from a patent ductus arteriosus and the contralateral pulmonary artery from the aorta resulting in ductal dependent pulmonary blood flow. We describe a premature neonate with caudal regression syndrome and type A3 truncus arteriosus who was palliated with a ductal stent allowing completion of a prolonged neonatal ICU hospitalisation for multiple comorbidities.

Truncal valve repair in an adolescent with severe annular dilatation.

Approximately 20% of patients with truncus arteriosus might need a truncal valve procedure within 20 years after anatomical repair due to regurgitation. These patients commonly develop valve regurgitation due to root dilatation with a sufficient amount of good quality valvular tissue. Thus, the reduction of the truncal annulus is the single most important factor to achieve durable repair, especially in patients in whom the Ross procedure is not an option.

Outcomes in Primary Repair of Truncus Arteriosus with Significant Truncal Valve Insufficiency: A Systematic Review and Meta-analysis.

Data regarding the effect of significant TVI on outcomes after truncus arteriosus (TA) repair are limited. The aim of this meta-analysis was to summarize outcomes among patients aged ≤ 24 months undergoing TA repair with at least moderate TVI. A systematic literature search was conducted in PubMed, Scopus, and CINAHL Complete from database inception through June 1, 2022. Studies reporting outcomes of TA repair in patients with moderate or greater TVI were included. Studies reporting outcomes only for patients aged > 24 months were excluded. The primary outcome was overall mortality, and secondary outcomes included early mortality and truncal valve reoperation. Random-effects models were used to estimate pooled effects. Assessment for bias was performed using funnel plots and Egger's tests. Twenty-two single-center observational studies were included for analysis, representing 1,172 patients. Of these, 232 (19.8%) had moderate or greater TVI. Meta-analysis demonstrated a pooled overall mortality of 28.0% after TA repair among patients with significant TVI with a relative risk of 1.70 (95% CI [1.27-2.28], p < 0.001) compared to patients without TVI. Significant TVI was also significantly associated with an increased risk for early mortality (RR 2.04; 95% CI [1.36-3.06], p < 0.001) and truncal valve reoperation (RR 3.90; 95% CI [1.40-10.90], p = 0.010). Moderate or greater TVI before TA repair is associated with an increased risk for mortality and truncal valve reoperation. Management of TVI in patients remains a challenging clinical problem. Further investigation is needed to assess the risk of concomitant truncal valve surgery with TA repair in this population.

Transapical Delivery of a Sapien Valve for Transcatheter Aortic Valve Replacement in an 11-Year-Old Patient with Truncus Arteriosus.

Complex congenital heart defects may necessitate repeated surgical interventions throughout a patient's lifetime. Each subsequent procedure exposes patients to a greater cumulative risk, thus adding to the potential morbidity and mortality of the surgery. Transcatheter interventions can help mitigate the surgical risk for many defects and can delay or mitigate the need for surgery. This case report describes the rare use of a transapically delivered transcatheter aortic valve replacement (TAVR) therapy in a high-risk pediatric patient to postpone the need for surgery and potentially reduce the number of lifelong surgical interventions. The case highlights how transcatheter aortic valve therapies can be considered for non-standard, higher risk pediatric patients to postpone the need for surgical valve replacement and may serve as a paradigm shift in the care of complex patients with aortic valve pathology.

Natural History of Truncal Root Dilatation and Truncal Valve Regurgitation in Truncus Arteriosus.

BACKGROUND: The natural history of the dilated truncal root in repaired truncus arteriosus (TA) is incompletely understood. METHODS: A single-center review of patients who underwent TA repair between January 1984 and December 2018 was performed. Echocardiographically determined root diameters and derived z scores were measured at the annulus, sinus of Valsalva (SoV), and sinutubular junction (STJ) immediately before TA repair and throughout follow-up. Linear mixed-effects models assessed trends in root dimensions over time. RESULTS: Of 193 patients who underwent TA repair at a median age of 12 days (interquartile range, 6-48 days) and survived to discharge, 34 (17.6%), 110 (57.0%), and 49 (25.4%) patients had bicuspid, tricuspid, and quadricuspid truncal valves, respectively. Median postoperative follow-up was 11.6 years (interquartile range, 4.4-22.0 years; range, 0.1-34.8 years). Truncal valve or root intervention was required in 38 patients (19.7%). The mean rates of annular, SoV, and STJ growth were 0.7 ± 0.3 mm/y, 0.8 ± 0.5 mm/y, and 0.9 ± 0.4 mm/y, respectively. Root z scores remained stable with time. At baseline, compared with patients with tricuspid leaflet anatomy, bicuspid patients had larger diameters at the SoV (P = .003) and STJ (P = .029), whereas quadricuspid patients had larger STJ diameters (P = .004). Over time, the bicuspid and quadricuspid cohorts demonstrated comparatively greater annular dilatation (both P < .05). Patients with ≥75th percentile root growth rates had a higher incidence of moderate-severe truncal regurgitation (P = .019) and truncal valve intervention (P = .002). CONCLUSIONS: Root dilatation in TA persisted for up to 30 years after primary repair. Patients with bicuspid and quadricuspid truncal valves demonstrated greater root dilatation over time and required more valve interventions. Continued longitudinal follow-up is warranted in this higher-risk cohort.

Outcomes of truncal valve replacement in neonates and infants: a meta-analysis.

BACKGROUND: Infants with truncus arteriosus typically undergo repair by repurposing the truncal valve as the neo-aortic valve and using a valved conduit homograft for the neo-pulmonary valve. In cases where the native truncal valve is too insufficient for repair, it is replaced, but this is a rare occurrence with a paucity of data, especially in the infant population. Here, we conduct a meta-analysis to better understand the outcomes of infant truncal valve replacement during the primary repair of truncus arteriosus. METHODS: We systematically reviewed PubMed, Scopus, and CINAHL for all studies reporting infant (<12 months) truncus arteriosus outcomes between 1974 and 2021. Exclusion criteria were studies which did not report truncal valve replacement outcomes separately. Data extracted included valve replacement type, mortality, and reintervention. Our primary outcome was early mortality, and our secondary outcomes were late mortality and reintervention rates. RESULTS: Sixteen studies with 41 infants who underwent truncal valve replacement were included. The truncal valve replacement types were homografts (68.8%), mechanical valves (28.1%), and bioprosthetic valves (3.1%). Overall early mortality was 49.4% (95% CI: 28.4-70.5). The pooled late mortality rate was 15.3%/year (95% CI: 5.8-40.7). The overall rate of truncal valve reintervention was 21.7%/year (95% CI: 8.4-55.7). CONCLUSIONS: Infant truncal valve replacement has poor early and late mortality as well as high rates of reintervention. Truncal valve replacement therefore remains an unsolved problem in congenital cardiac surgery. Innovations in congenital cardiac surgery, such as partial heart transplantation, are required to address this.

The prevalence of abnormal spirometry in children with CHD.

BACKGROUND: The burden of pulmonary disease in children with CHD remains under-recognised. Studies have examined children with single ventricle and two ventricle heart disease and documented a decreased forced vital capacity. Our study sought to further explore the pulmonary function of children with CHD. METHODS: A retrospective review was performed of spirometry in CHD patients over a 3-year period. Spirometry data were corrected for size, age, and gender and analysed using z-scores. RESULTS: The spirometry of 260 patients was analysed. About 31% had single ventricle (n = 80, 13.6 years (interquartile range 11.5-16.8)) and 69% had two ventricle circulation (n = 180, 14.4 years (interquartile range 12.0-17.3)). Single ventricle patients were found to have a lower median forced vital capacity z-score compared to two ventricle patients (p = 0.0133). The prevalence of an abnormal forced vital capacity was 41% in single ventricle patients and 29% in two ventricle patients. Two ventricle patients with tetralogy of Fallot and truncus arteriosus had similar low forced vital capacity comparable to single ventricle patients. The number of cardiac surgeries predicted an abnormal forced vital capacity in two ventricle patients except tetralogy of Fallot patients. CONCLUSION: Pulmonary morbidity in patients with CHD is common with a decreased forced vital capacity noted in single ventricle and two ventricle patients. Forced vital capacity is lower in patients with single ventricle circulation; however, two ventricle patients with tetralogy of Fallot or truncus arteriosus have similar lung function in comparison to the single ventricle group. The number of surgical interventions was predictive of forced vital capacity z-score in some but not all two ventricle patients and not predictive in single ventricle patients suggesting a multifactorial to pulmonary disease in children with CHD.

Fetal Echocardiographic Variables Associated with Pre-Surgical Mortality in Truncus Arteriosus: A Pilot Study.

Truncus arteriosus (TA) is a rare congenital heart defect that can be prenatally detected by fetal echocardiography. However, prognostication and prenatal counseling focus primarily on surgical outcomes due to limited fetal and neonatal pre-surgical mortality data. We aimed to describe the incidence and identify predictors of pre-surgical mortality in prenatally detected TA. This two-center, retrospective cohort study included fetuses diagnosed with TA between 01/2010 and 04/2020. The primary outcome was pre-surgical mortality, defined by fetal or neonatal pre-surgical death or primary listing for transplantation prior to discharge. Univariable regression modeling, Chi-square tests, and t tests assessed for associations between prenatal clinical, demographic, and fetal echocardiographic (fetal-echo) variables and pre-surgical mortality. Of 23 pregnancies with prenatal diagnosis of TA, 4 (17%) were terminated. Of the remaining 19, pre-surgical mortality occurred in 4 (26%), including 2 (11%) fetal deaths and 2 (11%) neonatal pre-surgical deaths. No transplantation listings. Of liveborn fetuses (n = 17), 15 (88%) underwent a neonatal surgery, and 1 (6%) required ECMO. As compared to the survivors, the pre-surgical mortality group had a higher likelihood of having left ventricular dysfunction (0% vs. 40%; p = 0.01), right ventricular dysfunction (0% vs. 60%; p = 0.002), cardiovascular profile score < 7 (0% vs. 40%; p = 0.01), skin edema (0% vs. 40%; p = 0.01), and abnormal umbilical venous (UV) Doppler (0% vs. 60%; p = 0.002). The presence of truncal valve regurgitation or stenosis neared significance. In this cohort with prenatally diagnosed TA, there is significant pre-surgical mortality, including fetal death and neonatal pre-surgical death. Termination rate is also high. Fetal-echo variables associated with pre-surgical mortality in this cohort include ventricular dysfunction, low CVP, skin edema, and abnormal UV Doppler. Knowledge about prenatal risk factors for pre-surgical mortality may guide parental counseling and postnatal planning in prenatally diagnosed TA.

Surgical Repair of a Rare Variant of Common Arterial Trunk, With Considerations of its Significance for Morphogenesis.

We present a successful surgical repair of a rare variant of the common arterial trunk with unusual arrangement of the pulmonary arteries. The variant was not readily classified using either of the popular classifications for the common arterial trunk. It is appropriately described as a common arterial trunk showing aortic dominance, but with extrapericardial origin of the pulmonary arteries from the underside of the truncal arch. We also provide an account of cardiac development, which we suggest offers an accurate explanation for its morphogenesis.

Congenital Aortic Valve Repair When the Options aren't Good: Truncus Arteriosus and Transposition of the Great Arteries.

Patients with truncus arteriosus and transposition of great arteries are prone to neo-aortic valve insufficiency. Although presenting at opposite ends of the age spectrum, both conditions tend to be commonly associated with neo aortic root dilatation. In patients with truncus arteriosus there is an additional complexity of quadricuspid valve morphology, which make up the majority of valves requiring repair. A unified approach to all these patients would include reduction and stabilization of the annulus and sinotubular junction, as well as achieving equal and symmetrical coaptation of the valve leaflets. By systematically employing these techniques, valve replacement should be avoidable in most children.

Laparoscopic radical resection for rectal cancer in a patient with uncorrected truncus arteriosus type IV: A case report.

Persistent truncus arteriosus is a rare congenital heart malformation which if not corrected, results in the death of about 50% of the patients, while fewer than 20% of the patients survive the first year of life. Here, we report the successful anesthetic management of an adult patient with uncorrected truncus arteriosus who presented for the laparoscopic radical resection of rectal cancer.

Non-Conduit Repair of Truncus Arteriosus.

INTRODUCTION: The procedure of choice for treatment of truncus arteriosus is one-stage repair within the first few months of life. Establishing right ventricle-pulmonary artery direct continuity without conduit can be a good alternative in the absence of valved conduits in developing centers. METHODS: Between January 2021 and June 2021, a total of five patients (three males, two females) underwent definitive repair of truncus arteriosus without an extracardiac conduit. We used the Barbero-Marcial technique to allow age-related growth, eliminate the risk of conduit-related complications, and to avoid forcing a conduit to place in a very small mediastinal space. RESULTS: The patients' mean age was 31.2 days (11-54 days). Their mean bodyweight was 3.2 kg (2.7-3.8kg). Mean postoperative intensive care unit stay was 39.6 days (7-99 days). There were two mortalities in the intensive care unit on postoperative days 12 and 61 due to lung-related problems. The remaining three cases' mean ventilation time was 15.6 days (8-22 days). CONCLUSION: Having access to a valved conduit is still challenging for some centers, and the non-conduit repair technique defined by Barbero-Marcial can be a successful, life-saving alternative easy for young surgeons to perform in newly based centers.

Contemporary Multicenter Outcomes for Truncus Arteriosus With Interrupted Aortic Arch.

BACKGROUND: Truncus arteriosus with interrupted aortic arch (TA-IAA) is a rare congenital heart defect with historically poor outcomes. Contemporary multicenter data are limited. METHODS: A retrospective cohort study of children who underwent repair of TA-IAA between 2009 and 2016 at 12 tertiary care referral centers within the United States was performed. Major adverse cardiac events (MACE) were defined as postoperative extracorporeal membrane oxygenation, cardiopulmonary resuscitation, or operative mortality. TA-IAA patients were compared with TA patients who underwent repair during the study period from the same institutions. RESULTS: We reviewed 35 patients with TA-IAA. MACE occurred in 12 patients (34%). Improvement over time was observed during the study period with 11 events (92%) occurring in the first half of the study period (P = .03). Factors associated with MACE included moderate or severe truncal valve insufficiency (P < .01), concomitant truncal valve repair (P = .04), and longer cardiopulmonary bypass duration (P = .02). In comparison with 216 patients who underwent TA repair, patients with TA-IAA had a higher rate of MACE, but this finding was not statistically significant (34% vs 20%, respectively; P = .07). Additionally no differences between TA-IAA and TA groups were observed for unplanned reoperations (14% vs 22%, respectively; P = .3), hospital length of stay (24 vs 23 days, P = .65), or late deaths (7% vs 7%, P = 1.00). CONCLUSIONS: In this contemporary, multicenter cohort the rate of MACE after repair of TA-IAA was high but improved during the study period. Early childhood outcomes of patients with TA-IAA were similar to those with TA.