Pulmonary ductal coarctation and left pulmonary artery interruption; pathology and role of neural crest and second heart field during development.

OBJECTIVES: In congenital heart malformations with pulmonary stenosis to atresia an abnormal lateral ductus arteriosus to left pulmonary artery connection can lead to a localised narrowing (pulmonary ductal coarctation) or even interruption We investigated embryonic remodelling and pathogenesis of this area. MATERIAL AND METHODS: Normal development was studied in WntCre reporter mice (E10.0-12.5) for neural crest cells and Nkx2.5 immunostaining for second heart field cells. Data were compared to stage matched human embryos and a VEGF120/120 mutant mouse strain developing pulmonary atresia. RESULTS: Normal mouse and human embryos showed that the mid-pharyngeal endothelial plexus, connected side-ways to the 6th pharyngeal arch artery. The ventral segment formed the proximal pulmonary artery. The dorsal segment (future DA) was solely surrounded by neural crest cells. The ventral segment had a dual outer lining with neural crest and second heart field cells, while the distal pulmonary artery was covered by none of these cells. The asymmetric contribution of second heart field to the future pulmonary trunk on the left side of the aortic sac (so-called pulmonary push) was evident. The ventral segment became incorporated into the pulmonary trunk leading to a separate connection of the left and right pulmonary arteries. The VEGF120/120 embryos showed a stunted pulmonary push and a variety of vascular anomalies. SUMMARY: Side-way connection of the DA to the left pulmonary artery is a congenital anomaly. The primary problem is a stunted development of the pulmonary push leading to pulmonary stenosis/atresia and a subsequent lack of proper incorporation of the ventral segment into the aortic sac. Clinically, the aberrant smooth muscle tissue of the ductus arteriosus should be addressed to prohibit development of severe pulmonary ductal coarctation or even interruption of the left pulmonary artery.

Impact of Pregnancy on Aortic Root in Women with Repaired Conotruncal Anomalies.

The effect of pregnancy on aortic root in women with repaired conotruncal anomalies (CTA) has not been clarified. This study examined aortic diameters during and after pregnancy in women with repaired CTA. A retrospective review of consecutive pregnant women with repaired CTA was performed for results of echocardiography from 1 year before pregnancy to 3 years after delivery and compared with findings from healthy pregnant volunteers. Participants comprised 42 subjects and 49 deliveries with repaired CTA (CTA group), and 47 healthy pregnant women (control group). Although no maternal aortic events were encountered, aortic diameters during pregnancy increased by 1.0 ± 2.2 mm (maximum, 7.0 mm) in the CTA group and 0.6 ± 1.3 mm (maximum, 3.4 mm) in the control group (p = 0.13). The CTA subgroup with increase in aortic diameter ≥ 3.5 mm during pregnancy showed no reversion to baseline diameter at follow-up > 6 months after delivery. Significant risk factors for increased aortic diameter and no reversal included pulmonary atresia, history of aortopulmonary shunt, older age at repair, and smaller left ventricular end-diastolic diameter pre-pregnancy. Women with repaired CTA tolerated pregnancy and delivery well. However, the aortic root progressively dilated during pregnancy and 1/4 of them, especially those with longstanding high aortic blood flow before repair, showed an increase of aortic root size of ≥ 3.5 mm during the peripartum period; this dilatation tended not to revert to the pre-pregnancy diameter. Therefore, serial measurement of the aortic root during pregnancy and after delivery is recommended in these women.

Tetralogy of Fallot with absent pulmonary valve syndrome, right aortic arch, and disconnected left pulmonary artery.

We present a rare case of a two-week-old infant with tetralogy of Fallot , absent pulmonary valve syndrome , right aortic arch, and disconnected left pulmonary artery (LPA) whose origin was from ductal ligament adjacent to the left subclavian artery. One-stage surgical correction, including closure of ventricular septal defect (VSD), LPA reconstruction and reconnection to the pulmonary trunk, reduction in size of the right pulmonary artery (RPA), and right ventricular outflow tract reconstruction with valved conduit, was successfully performed with good clinical mid-term outcome.

Atresia pulmonar con septum interventricular intacto, relevancia clínica del tratamiento paliativo aplicado en nuestro medio / Pulmonary atresia with intact interventricular septum- the clinical relevance of the palliative treatment in our context

Introducción: la atresia pulmonar con septum interventricular intacto es una cardiopatía congénita poseedora de complejidad a la hora de tomar decisiones terapéuticas ante cada paciente; por esa razón el enfrentamiento exitoso de la entidad constituye una asignatura pendiente para la Cardiología Pediátrica. Objetivo: determinar el grado de relevancia clínica existente en las modalidades terapéuticas paliativas aplicadas ante la enfermedad en nuestro medio. Métodos: se evaluaron 43 niños con diagnóstico confirmado de la entidad remitidos al Cardiocentro Pediátrico William Soler, y sometidos a tratamiento paliativo inicial en el período comprendido entre enero de 1992 y noviembre de 2011. Para determinar la relevancia clínica del proceder aplicado se llevó a cabo un estudio de efectividad que comprendió el análisis de la incidencia/prevalencia de eventos bien definidos (mortalidad precoz y presencia de causa letal principal) en cada variante de tratamiento impuesta. Resultados: la realización de fístula quirúrgica asociada a atrioseptostomía revistió altos índices de relevancia clínica. Conclusiones: se documentó escasa incidencia/prevalencia de mortalidad precoz y reducida ocurrencia de insuficiencia respiratoria como complicación letal al ser aplicado este proceder híbrido, en comparación al resto de las modalidades terapéuticas estudiadas

Introduction: pulmonary atresia with intact interventricular septum is a complex congenital cardiopathy at the time of making therapeutic decisions in each case; this is the reason why the successful management of this disease is a problem to be solved by the pediatric cardiology. Objective: to determine the existing level of clinical relevance of palliative therapies applied in our context. Methods: evaluation of 43 children with confirmed diagnosis of the disease, who had been referred to William Soler pediatric cardiological center and had undergone initial palliative treatment in the period of January 1992 through November, 2011. With the objective of determining the clinical relevance of this procedure, an effectiveness study including the analysis of incidence/prevalence of well-defined events (early mortality and main lethality causes) in each therapeutic variant used in patients was conducted. Results: performance of surgical fistula associated with atrioseptostomy showed high indexes of clinical relevance. Conclusions: there were low incidences and prevalence indexes of early mortality and also reduced occurrence of respiratory failures as lethal complication from this combined procedure, compared with the rest of the therapeutic modalities under study

Cardiac mass with calcification forming pulmonary atresia in utero; a case of fetal endocarditis.

Fetal intracardiac mass with calcification is very rare and not well reported. The authors treated a patient with a cardiac mass presumed to be infective endocarditis in the tricuspid valve and pulmonary valve positions with postcalcification echocardiographic shadow forming pulmonary atresia. Although postnatal consecutive blood cultures for bacterial and fungal pathogens tested negative, serial follow-up echocardiograms and surgical findings suggested infective endocarditis. This report describes a very rare case of presumed fetal infective endocarditis presenting as a calcified mass, which was successfully treated by partial resection without significant morbidity.

Surgical management of congenital (non-Ebstein) tricuspid valve regurgitation.

Congenital tricuspid valve regurgitation (TR) is a relatively uncommon condition that includes a heterogeneous group of lesions with a unique management strategy. There are wide anatomic variations that lead to congenital TR in patients without Ebstein malformation. Possible etiologies may include primary valve abnormalities (eg, congenital absence of chordae) or other forms of tricuspid valve dysplasia as in congenitally unguarded tricuspid valve, and patients with pulmonary atresia and intact ventricular septum, which can be similar to Ebstein's valves or secondary regurgitation in association with other anomalies as in atrioventricular septal defects, right ventricular outflow tract obstructive lesions (pulmonary stenosis or atresia with ventricular septal defect [VSD]), tricuspid valve annular dilatation in association with right ventricular volume overload lesions as in congenital coronary arterial fistula with secondary right ventricular enlargement, and Uhl's anomaly. Iatrogenic etiologies in the congenital population include TR secondary to previous VSD closure (chordal or leaflet injury), pacemaker or internal cardiac defibrillator lead-induced TR, and traumatic TR (ruptured chordae). Presentation depends on the severity of the disease and may be apparent in infancy, childhood, or adulthood.

[Pulmonary atresia with intact ventricular septum showing Fontan-like circulation after biventricular repair].

A 6-year-old girl was referred to our institute for cardiac evaluation. She had been diagnosed as pulmonary atresia with intact ventricular septum (PAIVS) at 16 days after birth and she had underwent balloon atrial septostomy and bilateral Blalock-Taussig shunts. A cardiac catheterization at 5 months showed that her right ventricular end diastolic volume was 58% of normal, the Z value (standard deviation units) of the diameter of the tricuspid valve was -3.3, and a biventricular repair was performed. After the operation, she suffered from severe congestive heart failure for 10 months. A cardiac catheterization at the age of 6 years demonstrated that the pulmonary blood flow was generated during the diastolic phase like Fontan circulation. Although biventricular repair had been performed at 5 months, the circulation may be less advantageous for long term survival than if the patient had undergone the staged Fontan procedure. Careful and continuous hemodynamic assessment is essential for surgical therapy of PAIVS.

Repair of ruptured tendinous chords in the newborn with flail tricuspid valve and functional pulmonary atresia.

Isolated congenital tricuspid valve regurgitation in a neonate was associated with heart failure and functional pulmonary atresia. Surgical repair of the ruptured chordae with the use of polytetrafluoroethylene artificial tendinous cords restored normal hemodynamics.

Complex pulmonary atresia in a neonate: successful surgical palliation for right pulmonary artery arising from the right main coronary artery.

We describe the case of a 3-week-old infant who was diagnosed with pulmonary atresia, a ventricular septal defect, and discontinuous pulmonary arteries. The pulmonary artery anatomy was delineated by angiography: the right pulmonary artery arose from the proximal right coronary artery, and the left pulmonary artery arose from a left ductus arteriosus. This case illustrates the importance of careful delineation of the anatomy in complex pulmonary atresia before surgical intervention.

Bronchial atresia: the hidden pathology within a spectrum of prenatally diagnosed lung masses.

PURPOSE: This study was aimed at determining whether different congenital lung masses represent diverse manifestations of a single developmental abnormality associated with fetal airway obstruction. METHODS: We conducted a 3-year retrospective review of patients who underwent surgical resection of a prenatally diagnosed lung mass. Prenatal imaging was used to define mass position and its effect on adjacent organs. Lung specimens were examined through careful full-specimen microdissections, as well as by plain and contrast roentgenograms. RESULTS: Twenty-five patients underwent lung resection during this study period. Based on the final pathology reports, 56% were congenital cystic adenomatoid malformations, 12% were congenital lobar emphysemas, 8% were bronchopulmonary sequestrations, and 24% had features of both cystic adenomatoid malformation and bronchopulmonary sequestrations. No bronchogenic cysts were present in this series. Overall, bronchial atresia was identified in 77% of the examined specimens (n = 22) and was associated with all types of lung malformations. CONCLUSIONS: Bronchial atresia is a common, unrecognized component of prenatally diagnosed congenital cystic adenomatoid malformations, bronchopulmonary sequestrations, congenital lobar emphysemas, and lesions of mixed pathology. Most congenital lung masses may be part of a spectrum of anomalies linked to obstruction of the developing fetal airway as an underlying component in their pathogenesis.

Echocardiographic characteristics of venous air embolism presenting as reversible pulmonary atresia in a premature neonate.

Air embolism secondary to mechanical ventilation is a rare but well-described complication in premature infants. We describe the echocardiographic appearance of venous air embolism manifesting as acute obstruction of the right ventricular outflow tract in such a premature infant, and review the pathophysiology of acute obstruction of the right ventricular outflow tract secondary to the "air lock" phenomenon. Awareness of the pathophysiology and echocardiographic appearance of venous air embolism may aid in prompt recognition and potential therapy for this lethal complication of mechanical ventilation.

[Three-dimensional multislice CT scanner: value in patients with pulmonary atresia with septal defect]. / Scanner multidétecteur tridimensionnel: intérêt chez les patients atteints d'atrésie pulmonaire à septum ouvert.

The aim of this study was to evaluate the interest of multislice CT scanning using three-dimensional reconstructions for pre- or postoperative management of patients with pulmonary atresia with ventricular septal defect. Twenty-one consecutive patients (median age: 8 months, median weight: 5.6 kg) with pulmonary atresia with ventricular septal defect were explored by multislice CT. Standard protocol consisted in one helical thoracic acquisition, associated with an injection of 2 to 3 mL/kg of iodinated contrast medium at a flow rate from 0.5 to 1 mL/s. Three-dimensionnal reconstructions were systematically performed. Before operation, status and size of central pulmonary arteries, major aorto-pulmonary collateral arteries, and associated anomalies were analyzed. In 13 operated patients, the permeability of palliative anastomosis and postoperative anatomical changes were studied. The status of central pulmonary arteries was assessed in all cases and the sizes found were in agreement to surgical findings. Main aorto-pulmonary collateral arteries were depicted and their relative position to central airways was assessed. Various associated anomalies were found: right aortic arch, anomalous coronary artery, abnormal pulmonary venous return, left superior vena cava. The anastomosis and the surgical connections (unifocalization, complete repair) were clearly analyzed. The multislice CT with three-dimensional reconstructions is a complementary imaging technique, reliable, useful to pre-operative management and postoperative follow-up of patients with pulmonary atresia with ventricular septal defect.

Functional pulmonary atresia in neonatal Marfan's syndrome: successful treatment with inhaled nitric oxide.

Functional pulmonary atresia is characterized by a structurally normal pulmonary valve not opening during right ventricular ejection. We report this rare condition in a premature newborn of a twin pregnancy, in which fetal echocardiography findings were consistent with critical pulmonary stenosis. After birth, features of neonatal Marfan's syndrome were noted. Echocardiography showed a morphologically normal but immobile pulmonary valve with continuous regurgitation. Right ventricular pressure was subsystemic. In this case, initial treatment with nitric oxide, followed by pharmacological duct closure, was successful. Differentiating between anatomic and functional pulmonary valve atresia may be difficult. The echocardiographic criteria are discussed.

Deleción en el cromosoma 22 (22q. 11.2). Etiología de cardiopatías congénitas troncoconales / Deletion within chromosome 22 (22q 11.2). Etiology of conotruncal heart malformations

El estudio y tratamiento de las cardiopatías congénitas ha mostrado en los últimos 50 años un progreso acelerado. El ecocardiograma permite observar casi todas las características de las cardiopatías y el cateterismo tiene un carácter primordialmente terapéutico. La cirugía cardiaca es cada vez más temprana y con intenciones correctivas. Hoy en día hay una mayor sobrevida de estos pacientes que llegan a la vida adulta y por razones naturales procrean. Un aspecto que no había tenido este desarrollo es el conocimiento de la etiología de algunas cardiopatías. Con las técnicas de estudio molecular de los cromosomas se encontró la deleción de la región 11.2 en el brazo largo del cromosoma 22, en pacientes que comparten cardiopatía troncoconal y características fenotípicas como facies con puente de la nariz ancho, punta nasal recortada, anomalía en la forma e implantación de los pabellones auriculares y paladar alto, entre otros. Con la finalidad de saber cuales de nuestros pacientes tienen tal deleción, reunimos a aquellos con aspectos fenotípicos asociados a cardiopatías troncoconales. En los primeros dos pacientes a los cuales se les realizó estudio cromosómico de inmunofluorescencia in situ se comprobó deleción en la región 11.2 en el cromosoma 22. La importancia de estos resultados reside en que un porcentaje significativo de los pacientes que acuden a nuestra Institución tienen alteraciones troncoconales, el comprobar en algunos de ellos su etiología permite establecer la indicación del asesoramiento genético y el tratamiento adecuado a nivel cardiológico y del desarrollo psicológico.

Conversion of complex neonatal Ebstein's anomaly into functional tricuspid or pulmonary atresia.

BACKGROUND: Ebstein's anomaly, due to failure of delamination of one or more leaflets of the tricuspid valve (TV), is associated with varying degrees of tricuspid regurgitation (TR) and dysplasia of the right ventricle (RV). Although refinement of tricuspid valvuloplasty and plication techniques have opened the way to a satisfactory outlook for the majority of older children and adults, Ebstein's anomaly presenting at neonatal age, secondary to ineffective forward flow into the pulmonary and systemic circulation, has a reported mortality rate of as high as 75%. In order to improve the dismal outcome in neonatal Ebstein's anomaly, we have strived for early univentricular palliation. PATIENTS AND METHODS: Univentricular repair was performed in five neonates (median age 5 days; range 2-14 days) with Ebstein's anomaly, ductal dependent pulmonary blood flow, severe TR, absence of forward flow across the pulmonary valve, and small left ventricular (LV) area due to right-to-left bowing of the ventricular septum and ineffective LV loading (median indexed LV area 10.5 cm2/m2). In addition, two neonates had moderate pulmonary regurgitation (PR), one with additional pulmonary stenosis. In all patients, the indexed area of the combined right atrium and atrialized RV was greater than that of the combined functional RV, left atrium, and left ventricle (median 22.0 and 20.8 cm2/m2, respectively). The median preoperative systemic oxygen tension was 35 mmHg and the median pH 7.28. Repair consisted of TV closure with a pericardial patch (with the coronary sinus draining into the RV) (n = 3) or, in the presence of PR, resection of the dysplastic TV and division and oversewing of the main pulmonary artery (n = 2), as well as excision of the atrial septum, resection of redundant right atrial wall, and construction of an aortopulmonary shunt (n = 5). RESULTS: The median indexed LV area increased from 10.5 to 18.8 cm2/m2 as a result of more effective loading of the left ventricle. There was no intraoperative or late mortality. The patients were extubated at a median of 7 days postoperatively. At discharge, the median systemic oxygen tension was 46 mmHg. In all five patients, at 6, 7, 10, 12 and 16 weeks of age, a bidirectional cavopulmonary anastomosis has been constructed. CONCLUSIONS: In neonates with Ebstein's anomaly and ductal dependent pulmonary blood flow, rational palliation consists of the surgical creation of tricuspid atresia or, in the additional presence of PR or pulmonary stenosis, the creation of pulmonary atresia. These procedures may result in effective LV decompression and more effective volume loading of the left ventricle with increase of systemic output and improved clinical outcome.

From functional pulmonary atresia to right ventricular restriction. Long term follow up of Uhl's anomaly.

We report a 14 year old boy who presented as a neonate with functional pulmonary atresia due to Uhl's disease with emphasis on the later detection of restrictive right ventricular physiology.

[Total cavopulmonary connection for grown diminutive pulmonary artery after staged Blalock-Taussig shunt].

We report a two-year-old girl with asplenia, [A, L, L] DORV, pulmonary atresia, common AV valve, PDA, and TAPVC, who successfully underwent total cavo pulmonary connection (TCPC). Deep cyanosis was pointed out since birth. Cardiac catheterization performed on the sixth day after birth revealed a diminutive pulmonary artery tree of which PA index was 41 mm2/m2. Left modified Blalock-Taussig shunt was created at 27 days of age. The PA index increased to 282 mm2/mm2, but disparity in diameter between the left and the right pulmonary artery was yielded by PDA subsidence. Therefore additional contralateral B-T shunt was made at one year of age. Follow-up cardiac catheterization at 28 months of age showed well developed pulmonary artery; PA index of 460 mm2/m2, right pulmonary resistance (Rp) of 3.49 units, left Rp of 2.33 units, and estimated total Rp was 1.39. According to study, bidirectional Glenn procedure or TCPC was indicated. Considering necessity of urgent repair of common pulmonary vein obstruction, regurgitation of the common atrio-ventricular valve and pulmonary artery stenosis, TCPC was performed with concomitant repair of the associated lesions. Severe butterfly-figure stenosis of the central PA was augmented by anastomosing both the left SVC and the left-sided atrium. In conclusion, diminutive pulmonary artery could be adequately grown by phase-in Blalock-Taussig shunts. Pulmonary blood flow scintigraphy was thought to be useful for estimation of pulmonary resistance in such cases with different pulmonary resistance between right and left PA.

Management of functional pulmonary atresia with isoproterenol in a neonate with Ebstein's anomaly.

Ebstein's anomaly is a rare congenital cardiac anomaly showing significant clinical manifestations with a high mortality rate in the neonatal period. The prognosis of the patient is essentially determined by the severity in morphological changes, however, high pulmonary vascular resistance in the neonatal period may aggravate tricuspid regurgitation and lead to functional pulmonary atresia. We describe a critically ill neonate with morphologically mild Ebstein's anomaly who was successfully managed with intensive care including isoproterenol administration for functional pulmonary atresia. Isoproterenol is a potent pulmonary vasodilator with inotropic and chronotropic effects, and seemed to decrease the pulmonary vascular resistance allowing increased antegrade blood flow to the pulmonary artery and improved cardiac output. If tachycardia is not present, isoproterenol administration is recommended in critically ill neonates with anatomically mild Ebstein's anomaly and no associated cardiac defects.