Clinical and anatomopathological descriptions of dog with arterious Hemitruncus: case report / [Descrições clínicas e anatomopatológicas de cão com hemitruncus arterioso: relato de caso

The anomalous origin of the pulmonary trunk in the ascending aorta, defined as arterious hemitruncus, is a rare congenital malformation in dogs, caused by a defect in the spiral septum. Thus, given the unusual occurrence in the canine species, the systemic severity and the high lethality, the aim of this study was to describe this heart disease in a three-month-old male German Spitz puppy, emphasizing clinical changes of the necropsy and microscopics. The animal had cyanosis, dyspnea and weakness and was forwarded for necropsy after sudden death. Numerous changes were detected in the post-mortem examination, including in the heart, as cardiomegaly and absence of the arterial ligament, which was replaced by the complete fusion between the ascending aorta and the pulmonary trunk, after leaving both the left and right ventricles, respectively and, among the microscopic findings, cardiomyocyte hypertrophy stood out. The association of these findings with the history indicated the diagnosis of arterious hemitruncus followed by cardiorespiratory failure, emphasizing the importance of out complementary cardiological exams in young symptomatic patients for the survival of those affected. Arterious hemitruncus, although rare, must be added in the differential diagnosis of other heart diseases that cause similar clinical signs.(AU)

A origem anômala do tronco pulmonar em aorta ascendente, definida como hemitruncus arterioso, é uma malformação congênita rara em cães, causada por defeito no septo espiral. Assim, diante da ocorrência incomum na espécie canina, da gravidade sistêmica e da alta letalidade, o objetivo deste trabalho foi descrever essa doença cardíaca em um filhote de três meses de idade, macho, Spitz Alemão, enfatizando as alterações clínicas, de necropsia e microscópicas. O animal apresentava cianose, dispneia e fraqueza e foi encaminhado para necropsia após morte súbita. Inúmeras alterações foram detectadas no exame post-mortem, inclusive no coração, como cardiomegalia e ausência do ligamento arterioso, o qual foi substituído pela fusão completa entre aorta ascendente e tronco pulmonar, após a saída de ambas dos ventrículos esquerdo e direito, respectivamente, e, dentre os achados microscópicos, destacou-se a hipertrofia de cardiomiócitos. A associação desses achados com o histórico indicou o diagnóstico de hemitruncus arterioso seguido de insuficiência cardiorrespiratória, ressaltando-se a importância de exames complementares cardiológicos em pacientes jovens sintomáticos na sobrevida dos acometidos. O hemitruncus arterioso, apesar de raro, deve ser acrescido no diagnóstico diferencial de outras cardiopatias que causam sinais clínicos similares.(AU)

Experience in the corrective treatment of patients with atrioventricular septum.

INTRODUCTION: Atrioventricular septal defects are a wide spectrum of cardiac malformations, from partial until complete with one unique atrioventricular valve, atrioventricular valve communication, and leaky left heart valve. Its fast evolution to pulmonary vascular disease calls for early surgical management. Corrective treatment has a high percentage of re-operations and 8.6% mortality. OBJECTIVES: To describe the results of corrective treatments of atrioventricular septum defects in our institution's patients. MATERIALS AND METHODS: Observational, cross-sectional, analytical, and retrospective study of the atrioventricular septum defect patients during the period from March 2013 until March 2015. RESULTS: 51 atrioventricular septum defect patients were operated, nine with incomplete defect and 42 with complete defect, predominance type A of Rastell (35, 81.3%). Age at diagnosis was from 2.9 to 7.4 months; 82.3% of the patients have Down's syndrome. The cardiopathy with more association was the patient ductus arteriosus in 61.9% of cases. Average stay in intensive care was 3.8-9.9 days. Eight (15.6%) patients died. CONCLUSION: Diagnosis and surgical treatment of atrioventricular septum defects in our institution it is made early. Results from surgical correction are comparable to that reported in the international literature.

Is there any association between childhood cardiac septal defects and ROCK2 gene polymorphism?

Rho/Rho-kinase pathway plays a critical role in the regulation of cellular functions such as proliferation and migration. One of the possible theories of the development of ventricular septal defects is cell migration disorder. The aim of this study was to analyze the genotype distributions and allele frequencies for the ROCK2 gene Thr431Asn polymorphisms in the development of cardiac septal defects in a Turkish population. In this case-control study, 300 patients with cardiac defects (150 patients with ventricular and 150 patients with atrial septal defects) and control group (150 healthy control subjects) were investigated. A single-nucleotide polymorphism in ROCK2 gene Thr431Asn was analyzed by real-time PCR using a Light-Cycler. Neither genotype distributions nor the allele frequencies for the Thr431Asn polymorphism showed a significant difference between the groups. These results suggest that there is no association of the ROCK2 gene Thr431Asn polymorphism with the development of cardiac septal defects in pediatric patients.

[Anatomic spectrum between complete and partial atrioventricular septal defect. Two and three-dimensional echocardiography approach]. / Espectro anatómico entre el defecto de la tabicación atrioventricular completo y parcial. Evaluación con ecocardiografía bi y tridimensional.

INTRODUCTION: It has been postulated that there is a morphogenetic relation between the atrioventricular septal defect (AVSD) type A of Rastelli and the type of two separated orifices, this so called partial forms, existent between both types a spectrum of anatomical forms in which interchordal spaces determinate the ventricular septal defects (VSD) size to forms in which the VSD is closed by fusion of the left septal valves to the crest of ventricular septum. METHODS: We present five patients which illustrates the variability of the atrioventricular defect by means of two dimensional and three-dimensional echocardiography. In each case was made a transesophagic echocardiogram using three-dimensional reconstruction with an Echo-Scan system (4.0 TomTec Gmb version, Munich, Germany). RESULTS: It was observed the following spectrum of atrioventricular defect: one patient had a complete closure of the VSD by the insertion of the left septal valves to the interventricular septal crest. One patient has a partially closed VSD. The last 3 patients had a large VSD with a large shunt and high pulmonary pressure. In those patients in whom the VSD was completely or partially closed, the hemodynamic behavior depended of the interatrial shunt and the regurgitation of the atrioventricular valve. They didn't present pulmonary hypertension, what allowed them to be less symptomatic. CONCLUSIONS: The three-dimensional echocardiographic study of the spectrum of AVSD type A of Rastelli, defines accurately the valve components and septal structures, so we can understand the transition between complete and partial forms. This difference determines the clinical evolution of the patients.

Espectro anatómico entre el defecto de la tabicación atrioventricular completo y parcial. Evaluación con ecocardiografía bi y tridimensional / Anatomic spectrum between complete and partial atrioventricular septal defect. Two and three-dimensional echocardiography approach

INTRODUCTION: It has been postulated that there is a morphogenetic relation between the atrioventricular septal defect (AVSD) type A of Rastelli and the type of two separated orifices, this so called partial forms, existent between both types a spectrum of anatomical forms in which interchordal spaces determinate the ventricular septal defects (VSD) size to forms in which the VSD is closed by fusion of the left septal valves to the crest of ventricular septum. METHODS: We present five patients which illustrates the variability of the atrioventricular defect by means of two dimensional and three-dimensional echocardiography. In each case was made a transesophagic echocardiogram using three-dimensional reconstruction with an Echo-Scan system (4.0 TomTec Gmb version, Munich, Germany). RESULTS: It was observed the following spectrum of atrioventricular defect: one patient had a complete closure of the VSD by the insertion of the left septal valves to the interventricular septal crest. One patient has a partially closed VSD. The last 3 patients had a large VSD with a large shunt and high pulmonary pressure. In those patients in whom the VSD was completely or partially closed, the hemodynamic behavior depended of the interatrial shunt and the regurgitation of the atrioventricular valve. They didn't present pulmonary hypertension, what allowed them to be less symptomatic. CONCLUSIONS: The three-dimensional echocardiographic study of the spectrum of AVSD type A of Rastelli, defines accurately the valve components and septal structures, so we can understand the transition between complete and partial forms. This difference determines the clinical evolution of the patients.

Ebstein's Anomaly: anatomo-echocardiographic correlation.

OBJECTIVE: The aim of this investigation is to demonstrate that in Ebstein's Anomaly (EA) the right ventricle (RV) is affected in its three portions and to establish an anatomoechocardiographic correlation between the anatomic features and the equivalent echocardiographic images. METHODS: Thirty hearts with EA were studied. The alterations of each portions of the RV were described. Fifty adult patients with this anomaly were studied by echocardiography. RESULTS: Anatomy: All hearts had atrial situs solitus, 27 had concordant atrioventricular connection and 3 discordant, of these 2 had transposition of the great arteries (TGA) and one double outlet right ventricle (DORV). The degree of tricuspid valve (TV) displacement showed a spectrum from I to III. The inlet of the RV was markedly thin in 27. The trabecular portion had multiples muscular bands in all. The outlet portion was dilated in 20 and stenotic in 5. In 25 atrial septal defects were found. Echocardiography: All patients had atrial situs solitus, 42 with concordant atrioventricular connection and 8 with discordant, of these last patients 5 had TGA and 3 DORV. The degree of TV displacement varied from I to III. The inlet of RV was markedly thin in 42. The trabecular portion had muscular bands in 45. The outlet portion was dilated in 31 and stenotic in 11. In 30 atrial septal defects were found. CONCLUSION: The EA affects the whole RV and the anatomoechocardiographic correlation provides an appropriate understanding of echocardiographic images in terms of a precise diagnosis, therapeutic decisions and prognosis.

[Persistent common trunk. Anatamopathological study of 25 specimen]. / Tronco común persistente. Estudio anatomopatológico de 25 especímenes.

In order to inform the pathologic features and their associated anomalies twenty five hearts with common trunk were studied with the segmental sequential system. An anatomico-embryological correlation was made to understand the pathological complex of this malformation. The results were: type I truncus (96%), infundibular ventricular septal defect (96%), displastic truncal valve (28%), ventriculo infundibular fold (92%), left coronary artery arising from the posterior wall of the truncus (75%), right coronary artery arising from their anterior wall (96%), coronary arteries arising from opposite Valsalva sinuses in the tetracuspid valves; the biventricular conection of the truncus was balanced in 60%, prevailing on the right (16%) or on the left (16%) ventricles. Among the associated anomalies there were right aortic arch, interruption of the aortic arch, anomalous origin of the left subclavian artery, vascular ring, aneurysm of the sinus of Valsalva, and absence of the left branch of the pulmonary artery. Developmentally common trunk is explained as a failure of truncoconal septation in the embryonic heart; a migration arrest of neural crest cells is implicated in the Di George syndrome. Knowledge of the anatomic features of common trunk and their associated anomalies, provides the morphological basis to interpret correctly the clinical diagnostic imagenology.

Tronco común persistente. Estudio anatomopatológico de 25 especímenes / Persistent common trunk. Anatomic study of 25 specimens

Se estudiaron con el sistema secuencial segmentario veinticinco corazones portadores de tronco común, con el propósito de informar sus características patológicas; además se elaboró una correlación anatomoembriológica, que explique la estructuración del complejo anatomopatológico de esta cardiopatía. Los hallazgos fueron: Tronco tipo I (96 por ciento), comunicación interventricular infundibular (96 por ciento), válvula troncal tetracular (92 por ciento), nacimiento de la arteria coronaria izquierda en la cara posterior del tronco (75 por ciento) y de la coronaria derecha en la cara anterior (96 por ciento), nacimiento de las arterias coronarias en senos opuestos en válvulas tetracúspides. La conexión biventricular del tronco fue la más frecuente (96 por ciento), siendo equilibrada en ambos ventrículos (60 por ciento) o predominando sobre el derecho (16 por ciento) o el izquierdo (16 por ciento). Las anomalías asociadas fueron: arco aórtico derecho, interrupción aórtica, origen anómalo de la arteria subclavia izquierda, anillo vascular, aneurisma del seno de Valsalva y ausencia de la rama izquierda de la arteria pulmonar. El tronco común se origina por falta de tabicación troncoconal y su presencia en el síndrome de Di George se debe a una falta de migración de células de las crestas neurales que intervienen en dicha tabicación. El conocimiento anatómico de la cardiopatía y las anomalías asociadas, constituyen una base referencial necesaria para interpretar la imagenología diagnóstica

[Anatomopathologic-embryologic correlation in atrioventricular connection absence]. / Correlación anatomopatológica-embriológica de la ausencia de conexión atrioventricular.

In order to offer a pathogenetic explanation for the absence of atrioventricular connexion, a correlation was made between the pathologic anatomy of this cardiac malformation and the embryonic processes which take part in the septation of the atrioventricular canal and the development of atrioventricular connections. The correspondence was made between the development of the canal's atrioventricular cushions, the septation of the common atrioventricular canal, the right and left atrioventricular canals and the morphogenesis of the mitral valve, all these processes were correlated with the anatomic elements derived from them. This led to infer that the malposition of the atrioventricular cushions divide the common atrioventricular canal unequally, giving rise to a narrow canal becoming atretic and a big canal where the mitral valve is evolved. The extreme lateralization of the atrioventricular septum to the right side would led to the absence of the right atrioventricular connection and the same process but to the left side, would give rise to the left absence of the atrioventricular connection. This ectopic septation process is supported by similar ones which can occur in other segments of the heart such as in tetralogy of Fallot and the transposition of the great arteries. This hypothesis explains sufficiently the pathologic anatomy of this type of congenital heart disease.

Anomalies of the left atrioventricular valve and related ventricular septal morphology in atrioventricular septal defects.

A characteristic feature of atrioventricular septal defects is a deficiency of the inlet part of the ventricular septum that results in a "scooped out" appearance. The depth of the scoop in relation to the disposition of the atrioventricular valves has been debated. To clarify the relation between the morphology of the ventricular septum and the disposition of the atrioventricular valves, we quantified these anatomic features in 151 hearts at autopsy to determine whether those features identified particular groups within the overall lesion. We found that 137 hearts had left atrioventricular valves with three leaflets. The left valve in the other 14 hearts exhibited a dual orifice, a two-leaflet or one-leaflet arrangement, or was imperforate. These anomalies could be analyzed in terms of a sequence of diminishing formation of the commissures. Also, three-leaflet valves displayed a variability in which the angular size of the mural leaflet correlated negatively with that of the inferior leaflet. In some of the hearts with a common atrioventricular orifice, the bridging leaflets did not meet over the ventricular septum, thus creating a "gap." The mural leaflet's angular size corresponded to a deficiency of the combined inferior-mural leaflet complex. Hearts with an abnormal disposition of the left atrioventricular valve had the ventricular septum "scooped" to a greater extent than those with a common orifice, although most had separate right and left atrioventricular orifices.