Contemporary Outcomes and Factors Associated With Mortality After a Fetal or Postnatal Diagnosis of Common Arterial Trunk.

BACKGROUND: Common arterial trunk (CAT) is a rare anomaly with a spectrum of pathology. We sought to identify current trends and factors associated with postnatal outcomes. METHODS: This was a single-centre review including 153 live births with planned surgery. Patients were analyzed as 2 cohorts based on era of CAT diagnosis (1990 to 1999 vs 2000 to 2014) and complexity of disease (simple vs complex). "Complex" required the association with significant aortic arch obstruction, truncal valve (TV) stenosis/regurgitation, and/or branch pulmonary artery (PA) hypoplasia, respectively. RESULTS: Sixteen (10%) died preoperatively, and this outcome was associated with significant TV stenosis (odds ratio [OR] 4.55; P = 0.01) and regurgitation (OR 3.17; P = 0.04); 130 (95%) of 137 operated infants underwent primary complete repair. Their survival rates to 1 year improved from 54% to 85% after 2000, although this outcome remained substantially lower for cases with a complex vs simple CAT repair (76% vs 95%; OR 6.46; P = 0.006). Other risk factors associated with decreased 1-year survival included diagnosis before 2000 (OR 4.48; P = 0.038) and a lower birth weight (OR 8.0 per kg weight; P = 0.001). Finally, of 93 survivors beyond year 1 of life, 76 (82%) had undergone a total of 224 reinterventions. Only 15 (16%) were alive without any surgical or catheter-based reintervention at study end. CONCLUSIONS: Despite recent surgical improvements, postnatal mortality continues to be substantial if CAT is complicated by significant pathology of the TV, aortic arch, or branch PAs. Reoperations and catheter interventions are eventualities for most patients during childhood.

Multicenter Analysis of Early Childhood Outcomes After Repair of Truncus Arteriosus.

BACKGROUND: Literature describing morbidity and mortality after truncus arteriosus repair is predominated by single-center reports. We created and analyzed a multicenter dataset to identify risk factors for late mortality and right ventricle-to-pulmonary artery (RV-PA) conduit reintervention for this patient population. METHODS: We retrospectively collected data on children who underwent repair of truncus arteriosus without concomitant arch obstruction at 15 centers between 2009 and 2016. Cox regression survival analysis was conducted to determine risk factors for late mortality, defined as death occurring after hospital discharge and greater than 30 days after operation. Probability of any RV-PA conduit reintervention was analyzed over time using Fine-Gray modeling. RESULTS: We reviewed 216 patients with median follow-up of 2.9 years (range, 0.1 to 8.8). Operative mortality occurred in 15 patients (7%). Of the 201 survivors there were 14 (7%) late deaths. DiGeorge syndrome (hazard ratio [HR], 5.4; 95% confidence interval [CI], 1.6 to 17.8) and need for postoperative tracheostomy (HR, 5.9; 95% CI, 1.8 to 19.4) were identified as independent risk factors for late mortality. At least one RV-PA conduit catheterization or surgical reintervention was performed in 109 patients (median time to reintervention, 23 months; range, 0.3 to 93). Risk factors for reintervention included use of pulmonary or aortic homografts versus Contegra (Medtronic, Inc, Minneapolis, MN) bovine jugular vein conduits (HR, 1.9; 95% CI, 1.2 to 3.1) and smaller conduit size (HR per mm/m2, 1.05; 95% CI, 1.03 to 1.08). CONCLUSIONS: In a multicenter dataset DiGeorge syndrome and need for tracheostomy postoperatively were found to be independent risk factors for late mortality after repair of truncus arteriosus, whereas risk of conduit reintervention was independently influenced by both initial conduit type and size.

Late management of truncus arteriosus: 20 years of humanitarian experience.

OBJECTIVES: Early surgical management of common arterial trunk is well established and has good prognosis. Late diagnosis is less common. We reviewed late-diagnosed common arterial trunk management and prognosis for children in developing countries. We also discuss the need for prior catheterisation. Material and methods We reviewed all common arterial trunk patients managed by our humanitarian organization since 1996. RESULTS: A total of 41 children with common arterial trunk were managed at a mean age of 3 years old. The lack of adequate facilities in developing countries explains the late management. The decision to proceed with surgery was based on clinical and radiological symptoms of persistent shunt, particularly a high cutaneous saturation level, regardless of catheterization - not carried out systematically. Eight children had to be withdrawn and 33 (80.5%) received operation - mean saturation 91%. The postoperative course was marked by pulmonary arterial hypertension requiring specific treatment in 30% of cases. The operative mortality was 1/33. The 32 children returned home without treatment after a mean post operative stay of 49 days and were followed up (mean FU 3.4 years, none lost to follow-up). At last contact, 1 child died six months after surgery, 1 child had a massive truncal valve insufficiency, 5 had a significant stenosis of the RV-PA tube, and 2 have had further surgery for tube replacement. CONCLUSIONS: Late management and surgery of common arterial trunk is possible with good long-term results without prior hemodynamic examination up to an advanced childhood when signs of left-to-right shunt persist. A high saturation level (above 88%) seems to be a good operability criterion.

Muerte súbita en una paciente de 32 años con tronco arterioso persistente / Sudden death in a 32-year-old patient with persistent truncus arteriosus

El tronco arterioso es una anomalía cardiaca relativamente rara, con una incidencia del 0,21-0,34% de los pacientes nacidos con anomalías cardiacas congénitas. Sin reparación quirúrgica precoz, menos del 10% de los pacientes superan el primer año de vida. Presentamos un caso de muerte súbita en una paciente de 32 años con tronco arterioso persistente sin corregir quirúrgicamente, y que había llevado una vida compatible con la normalidad hasta los 28 años. Los principales hallazgos de autopsia son un tronco arterial único, donde desembocan los conos de salida de ambos ventrículos. Las arterias coronarias tienen su origen por encima de la válvula truncal. La arteria descendente anterior está lateralizada hacia la izquierda, mientras que las ramas ventriculares de la coronaria derecha son de un tamaño y longitud superiores a lo normal. La descompensación originada por un episodio de vómitos y diarrea previo a su fallecimiento podría justificar una muerte súbita por taquiarritmia (AU)

Truncus arteriosus is a serious cardiac malformation, accounting for 0.21-0.34% of all congenital heart diseases. Without an early surgical treatment, less than 10% of these patients survive more than one year. We reported a case of sudden death in a 32-year-old female patient with persistent truncus arteriosus without surgical correction, who had lived without noticeable symptoms until she was 28. The main autopsy findings were a single arterial truncus in which both right and left ventricles infundibula flow into. Coronary arteries are originated above the tricuspid truncal valve. Left anterior descending coronary artery was displaced towards the left, whereas ventricular branches of the right coronary artery were larger than normal. he unbalanced state due to an episode of vomiting and diarrhea few days before her death could justify an arrhythmic sudden death (AU)

Epidemiology of nonsyndromic conotruncal heart defects in Texas, 1999-2004.

INTRODUCTION: Congenital heart defects (CHDs) are the most common structural birth defects, yet their etiology is poorly understood. As there is heterogeneity within the group of CHDs, epidemiologic studies often focus on subgroups, of conditions, such as conotruncal heart defects (CTDs). However, even within these subgroups there may be etiologic heterogeneity. The aim of the present study was to identify and compare maternal and infant characteristics associated with three CTDs: truncus arteriosus (TA), dextro-transposition of the great arteries (d-TGA), and tetralogy of Fallot (TOF). METHODS: Data for cases with nonsyndromic TA (n = 78), d-TGA (n = 438), and TOF (n = 529) from the Texas Birth Defects Registry, 1999-2004, were used to estimate crude and adjusted prevalence ratios, separately for each condition, using Poisson regression. Polytomous logistic regression was used to determine whether the observed associations were similar across the two largest case groups (d-TGA and TOF). RESULTS: In Texas, 1999-2004, the prevalence of nonsyndromic TA, d-TGA, and TOF was 0.35, 1.98, and 2.40 per 10,000 live births, respectively. There was evidence of a significant linear increase in the risk of each condition with advancing maternal age (p < 0.01). Significant associations were observed for TA and maternal residence on the Texas-Mexico border; d-TGA and infant sex, maternal race/ethnicity, history of previous live birth, and birth year; and TOF and maternal race/ethnicity and education. Further, the associations with some, but not all, of the study variables were significantly different for d-TGA and TOF. CONCLUSION: These findings add to our limited understanding of the epidemiology of CTDs.

Truncus arteriosus associated with interrupted aortic arch in 50 neonates: a Congenital Heart Surgeons Society study.

BACKGROUND: Patients with both interrupted aortic arch (IAA) and truncus arteriosus (TA) have worse outcomes than those with either lesion in isolation. We determined outcomes and associated factors in this rare group. METHODS: From 1987 to 1997, 50 (11%) of 472 neonates with IAA were identified with TA. Site of aortic arch interruption was distal to the left subclavian artery in 16% and between the left common carotid and subclavian artery in 84%. From the common arterial trunk, the pulmonary arteries arose from a main pulmonary trunk in 46%, common orifice in 22%, and separate orifices in 32%. At presentation, truncal valve stenosis was present in 12% and regurgitation in 22%. RESULTS: There were 34 deaths, with a single early hazard phase. Overall survival from admission was 44%, 39%, and 31% at 6 months, 1 year, and 10 years, respectively. One patient had primary cardiac transplantation and 4 died without any intervention. The IAA repair alone was performed in 7 patients, with single stage repair of both IAA and TA in 38 patients. Associated factors for overall time-related death include female gender (p < 0.001), type III TA (p < 0.001) and one institution (low-risk; p < 0.001). Results improved somewhat over time (p < 0.001). At 5 years after IAA repair only 28% were alive without arch repair intervention, and at 5 years after TA repair only 18% were alive without conduit reoperation. CONCLUSIONS: The combination of IAA and TA carries high early mortality, with high risk of reinterventions in survivors. One stage repair of both TA and IAA is the optimal management.

Persistent truncus arteriosus: twenty years experience in a tertiary care center in Taiwan.

BACKGROUND: Persistent truncus arteriosus (PTA) is a rare congenital heart disease. The disease spectrum and outcome in the Oriental are still unclear. METHODS AND RESULTS: A total of 35 patients with PTA were identified from the Pediatric Cardiology Database of this institution, giving an incidence of 0.47%. According to the Van Praagh classification, we found type A1 in 16, A2 in 10, A3 in 4 and A4 in 5 patients. The most common truncal valves were still tricuspid (57.1%) and quadricuspid (28.5%), with the latter being associated with moderate to severe truncal regurgutation. Eleven patients had not received surgery and all died. We classified the era of operation as early (between 1980 and 1995) or late (1996-2001), and further classified the type of PTA as simple (type A1 or A2) or complex (interrupted aortic arch-A4, absent orifice of one PA from truncal root-A3 or moderate truncal valve insufficiency). The overall surgical mortality was 67%. Statistical analysis revealed that age at operation (older than 6 months), early operation era and complex PTA were risk factors for survival. CONCLUSIONS: PTA is a rare form of congenital heart disease in Taiwan and probably also in the Oriental. The surgical reparation seems to improve with experience. Early operation may prevent pulmonary vasculopathy. However, the results in complex PTA remain poor.

Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies.

OBJECTIVES: This study was designed to determine the prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies and to assess the clinician's ability to predict the presence or absence of 22q11.2 microdeletion on the basis of clinical features. BACKGROUND: It is known that 22q11.2 microdeletion is a chromosomal anomaly with cardiac and extracardiac manifestations. The prevalence and manifestations in adults have not been well characterized. METHODS: A total of 103 consecutive adults with either tetralogy of Fallot (TOF), pulmonary atresia/ventricular septal defect (PA/VSD), or truncus arteriosus (TA) were prospectively screened for 22q11.2 microdeletion using a fluorescence in situ hybridization (FISH) assay. Clinicians were asked to predict 22q11.2 microdeletion status on the basis of clinical features. A geneticist blinded to FISH assay results reviewed photographs of the patients for typical dysmorphic features of 22q11.2 microdeletion. RESULTS: Six patients (prevalence 5.8%, 95% confidence interval 1.3 to 10.3) had 22q11.2 microdeletion (3 with TOF, 2 with PA/VSD, 1 with TA). In two of these patients, the clinician incorrectly predicted absence of the deletion. In three, typical dysmorphic features of 22q11.2 microdeletion were absent. CONCLUSIONS: Our work showed that 22q11.2 microdeletion is under-recognized in adults with congenital heart disease. The absence of typical phenotypic features makes it difficult to correctly predict if the deletion is present. Screening for 22q11.2 microdeletion should be considered in adults with high-risk cardiac lesions, as it has important implications in reproductive counseling and surveillance for associated extracardiac manifestations.

Correction of truncus arteriosus with autologous arterial flap in neonates and small infants.

BACKGROUND: This study describes the results of techniques using the autologous truncal wall and part of the pulmonary artery for correction in anticipation of the growth of the pulmonary tract in patients with truncus arteriosus. METHODS: Seven consecutive patients with truncus arteriosus were reviewed. The posterior wall of the pulmonary tract was obtained by anastomosing the lower edge of the truncal arteriotomy to the upper corner of the ventriculotomy from the truncus in types I and II. Anterior translocation of the pulmonary artery was performed in a type III. A pericardial patch with or without a monocusp was placed to complete the right ventricular outflow tract. RESULTS: There were two hospital deaths, one of which was unrelated to a cardiac problem. Postoperative right-to-left ventricular peak pressure ratio was less than 0.55. There was one left pulmonary stenosis due to monocusp adherence in the late postoperative period. The sizes of the pulmonary tract at anastomosis were between 107% and 166% of the normal value between 7 months and 3.8 years of follow-up. CONCLUSIONS: The use of autologous arterial wall instead of a conduit is recommended for the repair of truncus arteriosus to expect growth of the pulmonary tract.

[Recurrence of common truncus arteriosus. Prenatal diagnosis of a case report]. / Récurrence de tronc artériel commun. A propos d'un cas de diagnostic anténatal.

We report a case of isolated truncus arteriosis diagnosed prenatally which recurred during a subsequent pregnancy. This observation would suggest an increased risk of recurrent single trunk malformation as compared with other congenital heart diseases, in agreement with our understanding of the genetic processes involved. A prenatal screening can be achieved with a systematic examination of the fetal morphology. Prognosis is severe and prenatal diagnosis is difficult.

Fate of small homograft conduits after early repair of truncus arteriosus.

Neonatal repair of truncus arteriosus is being performed in a number of centers, often with the use of small homograft conduits. The fate of the homograft and the risk of replacement were the subjects of this study. Between January 1987 and October 1991, 43 infants aged less than 3 months (range, 3 to 90 days) underwent primary repair of truncus arteriosus including implantation of a valved homograft conduit (diameter, 7 to 12 mm). Twenty-nine had follow-up of more than 6 months (range, 6 to 65 months; mean, 21.9 months). After a mean period of 31 months (range, 8 to 65 months), 7 patients showed obstruction with right ventricular pressures at least 75% systemic and underwent either a conduit change (n = 5) or a patch augmentation (n = 2). Mean cardiopulmonary bypass time at reoperation was 99 minutes; mortality was zero. Five other children are known to have a right ventricular pressure of 50% to 60% systemic, 2 having undergone balloon dilation. Statistical comparison of the patients with conduit reoperation or high right ventricular pressure (n = 12) with the rest of the population (n = 17) revealed an elevated pulmonary artery to right ventricular pullback gradient on postoperative day 1 after the repair (7.7 versus 1.3 mm Hg; p = 0.001) and choice of an aortic over a pulmonary homograft (100% versus 64.7%; p = 0.065) as significant risk factors. Age and weight at repair, postoperative pulmonary artery pressure, length of follow-up, and size of the homograft showed no significant differences between the two groups.(ABSTRACT TRUNCATED AT 250 WORDS)

Persistent truncus arteriosus--an autopsy study of 16 cases.

Sixteen specimens of heart with persistent truncus arteriosus were studied to evaluate the anatomic features. Using the Collet and Edwards classification, type I truncus arteriosus was the most frequent (62.5%). Using Van Praagh's classification type A1 was the most common (43.7%). There were two cases which could not be classified according to the Collet and Edwards classification. The truncal valve was tricuspid in 75% of the cases and bicuspid in the remaining 25%. In all 6 cases with interruption of the aorta, the truncal valve was committed to the right ventricle. The ventricular septal defect was subtruncal in all except 1 case. There was variation in the thickness of the posterior limb of the septal band and the ventriculo-infundibular fold. Absence of the ventriculo-infundibular fold in 3 cases led to truncal tricuspid continuity. Right-sided aortic arch and interruption of the aorta were frequently associated arch anomalies.

Tricuspid atresia: association with persistent truncus arteriosus.

Clinical, echo-Doppler, and pathologic data of a rare case of tricuspid atresia in association with truncus arteriosus are presented. There are only six patients (including the patient reported here) with this anomaly in whom detailed pathologic and/or clinical descriptions are available in the literature. An additional six cases were mentioned in the literature but without any details. A prevalence rate of 1.4% among tricuspid atresia cases is estimated. All infants presented with symptoms of cyanosis and/or congestive heart failure within a few days to 2 months after birth and died shortly thereafter. Cardiomegaly and increased pulmonary vascular markings on the chest x-ray film and left axis deviation with left ventricular hypertrophy on the ECG are usually present. Echocardiographic, catheterization, and angiocardiographic studies are helpful in documenting anatomic and physiologic features of this anomaly. Pathologically, the muscular type of tricuspid atresia, type I or II truncus arteriosus, a large subtruncal VSD, and a hypoplastic right ventricle are present. It is concluded that coexistence of tricuspid atresia and truncus arteriosus is rare; clinical, laboratory, and pathologic features are distinctive; the clinical presentation early in life with rapid demise is common; and prompt palliative surgery immediately after recognition of this anomaly should be undertaken.

Ductus arterioso en prematuros / Patent ductus arteriosus in premature infants

La mejoría de la terapia ventilatoria en prematuros con síndrome de dificultad respiratoria aumentó la incidencia del ductus arterioso persistente en esta población. La incidencia del ductus permeable es incierta y depende de la edad gestacional, sexo y stress perinatal; la permeabilidad en niños con peso de nacimiento inferior a 1.750 g es del 31% y en los menores de 1.000 g del 80% (Universidad de California, San Fracisco). La incidencia es mayor en los niños con síndrome de difucultad respiratoria por inmadurez pulmonar y en los tratados con surfactante artificial, en cambio, ha demostrado ser menor en prematuros con antecedentes de retardo del crecimiento intrauterino o administración de glucocorticoides a la madre. Las manifestaciones clínicas dependen de la magnitud del cortocircuito de izquierda a derecha a nivel del ductus, sumado a las características de inmadurez del miocardio, incapaz de tolerar sobrecargas de volumen. La disminución del flujo sistémico que se produce en el ductus hemodinámicamente significativo, altera la perfusión renal y gastrointestinal. La clínica del ductus en el prematuro ventilado con presión positiva es atípica. La ecocardiografía M y bidimensional y el estudio Doppler demostraron ser la principal metodología diagnóstica no invasiva, al evaluar relación AI/Ao, dimensión del ventrículo izquierdo e intervalos de tiempo sistólico de ventrículo izquierdo. El ductus sintomático es el que requiere tratamiento. Este consiste en el cierre farmacológico o quirúrgico. La digoxina no está indicada. La restricción hídrica, si bien altera las manifestaciones clínicas del ductus permeable, no modifica su indicencia (Green y colaboradores). Los diuréticos, si bien pueden controlar el fallo cardíaco congestivo, pueden ser causa de disbalances electrolíticos y contribuir a la persistencia del ductus permeable al aumentar la excreción renal de PGE2

Ductus arterioso en prematuros / Patent ductus arteriosus in premature infants

La mejoría de la terapia ventilatoria en prematuros con síndrome de dificultad respiratoria aumentó la incidencia del ductus arterioso persistente en esta población. La incidencia del ductus permeable es incierta y depende de la edad gestacional, sexo y stress perinatal; la permeabilidad en niños con peso de nacimiento inferior a 1.750 g es del 31% y en los menores de 1.000 g del 80% (Universidad de California, San Fracisco). La incidencia es mayor en los niños con síndrome de difucultad respiratoria por inmadurez pulmonar y en los tratados con surfactante artificial, en cambio, ha demostrado ser menor en prematuros con antecedentes de retardo del crecimiento intrauterino o administración de glucocorticoides a la madre. Las manifestaciones clínicas dependen de la magnitud del cortocircuito de izquierda a derecha a nivel del ductus, sumado a las características de inmadurez del miocardio, incapaz de tolerar sobrecargas de volumen. La disminución del flujo sistémico que se produce en el ductus hemodinámicamente significativo, altera la perfusión renal y gastrointestinal. La clínica del ductus en el prematuro ventilado con presión positiva es atípica. La ecocardiografía M y bidimensional y el estudio Doppler demostraron ser la principal metodología diagnóstica no invasiva, al evaluar relación AI/Ao, dimensión del ventrículo izquierdo e intervalos de tiempo sistólico de ventrículo izquierdo. El ductus sintomático es el que requiere tratamiento. Este consiste en el cierre farmacológico o quirúrgico. La digoxina no está indicada. La restricción hídrica, si bien altera las manifestaciones clínicas del ductus permeable, no modifica su indicencia (Green y colaboradores). Los diuréticos, si bien pueden controlar el fallo cardíaco congestivo, pueden ser causa de disbalances electrolíticos y contribuir a la persistencia del ductus permeable al aumentar la excreción renal de PGE2 (AU)