Anomalía de Ebstein «like¼ en doble entrada ventricular. Una rara asociación / Ebstein's "like" anomaly ventricular double inlet. A rare association

Resumen: Introducción y objetivos: La asociación de corazones univentriculares con doble entrada y anomalía de Ebstein «like¼ de la válvula auriculoventricular común es extremadamente rara. Se describen 2 corazones con esta asociación. Métodos: Se utilizó el sistema secuencial segmentario que determina el situs auricular, los tipos y modos de conexión auriculoventricular y ventriculoarterial y las anomalías agregadas. Resultados: Ambos corazones presentaron situs solitus auricular, defecto septal auriculoventricular con foramen primum y doble entrada y doble salida con grandes arterias normalmente relacionadas en un ventrículo único. En el primero las 4 valvas auriculoventriculares estuvieron adosadas a la pared ventricular desde la unión auriculoventricular hasta el ápex con auricularización de la entrada y de la porción trabecular y presentó estenosis infundibular y valvular. En el segundo la porción proximal de la válvula auriculoventricular estuvo adosada a la pared ventricular con auricularización pequeña; en su porción distal mostró displasia con nodulaciones fibromixoides y cuerdas tendinosas pequeñas y gruesas y la arteria pulmonar estuvo dilatada. Conclusiones: Ambos corazones forman parte de la conexión auriculoventricular univentricular del sistema secuencial segmentario, cuya precisión diagnóstica muestra su eficacia. Las asociaciones de defectos congénitos en un solo corazón muestran el infinito espectro de las mismas, lo que expande nuestro conocimiento de la cardiología pediátrica.

Abstract: Introduction and objectives: The association of univentricular heart with double inlet and Ebstein's "like" anomaly of the common atrioventricular valve is extremely rare. Methods: Two hearts with this association are described with the segmental sequential system which determine the atrial situs, the types of atrioventricular and ventriculoarterial connections and associated anomalies. Results: Both hearts had atrial situs solitus, and a univentricular heart with common atrioventricular valve, a foramen primum and double outlet ventricle with normal crossed great arteries. In the fiefirst heart the four leaflets of the atrioventricular valve were displaced and fused to the ventricular walls, from the atrioventricular union roward the apex with atrialization of the inlet and trabecular zones and there was stenosis in the infundibulum and in the pulmonary valve. In the second heart the proximal segment of the atrioventricular valve was displaced and fused to the ventricular whith shot atrialization and the distal segment was dysplastic with fibromixoid nodules and tendinous cords short and thick; the pulmonary artery was dilate. Conclusions: Both hearts are grouped in the atrioventricular univentricular connection in the segmental sequential system. The application of this method in the diagnosis of congenital heart disease demonstrates its usefulness. The associations of complex anomalies in these hearts show us the infinite spectrum of presentation of congenital heart disease which expands our knowledge of pediatric cardiology.

[Ebstein's "like" anomaly ventricular double inlet. A rare association]. / Anomalía de Ebstein «like¼ en doble entrada ventricular. Una rara asociación.

INTRODUCTION AND OBJECTIVES: The association of univentricular heart with double inlet and Ebstein's "like" anomaly of the common atrioventricular valve is extremely rare. METHODS: Two hearts with this association are described with the segmental sequential system which determine the atrial situs, the types of atrioventricular and ventriculoarterial connections and associated anomalies. RESULTS: Both hearts had atrial situs solitus, and a univentricular heart with common atrioventricular valve, a foramen primum and double outlet ventricle with normal crossed great arteries. In the fiefirst heart the four leaflets of the atrioventricular valve were displaced and fused to the ventricular walls, from the atrioventricular union roward the apex with atrialization of the inlet and trabecular zones and there was stenosis in the infundibulum and in the pulmonary valve. In the second heart the proximal segment of the atrioventricular valve was displaced and fused to the ventricular whith shot atrialization and the distal segment was dysplastic with fibromixoid nodules and tendinous cords short and thick; the pulmonary artery was dilate. CONCLUSIONS: Both hearts are grouped in the atrioventricular univentricular connection in the segmental sequential system. The application of this method in the diagnosis of congenital heart disease demonstrates its usefulness. The associations of complex anomalies in these hearts show us the infinite spectrum of presentation of congenital heart disease which expands our knowledge of pediatric cardiology.

Síndrome de la cimitarra. Correlación anatomoembriológica / Scimitar syndrome. Correlation anatomo-embryological

Resumen Objetivos Describir morfológicamente un bloque visceral toracoabdominal de un caso de síndrome de la cimitarra. Proponer una hipótesis patogenética que explique el desarrollo de las conexiones venosas pulmonares de este síndrome. Método El espécimen anatómico se describió con el sistema secuencial segmentario. Se determinó el situs, las conexiones entre los segmentos cardíacos y las anomalías agregadas. Se describió la anatomía de ambos pulmones, incluida la conexión venosa pulmonar. Se elaboró una hipótesis patogenética que explica la conexión venosa pulmonar a través de una correlación entre la patología del síndrome y el desarrollo normal de las venas pulmonares. Resultados El situs fue solitus, las conexiones entre los segmentos cardíacos fueron normales, existió hipoplasia y displasia del pulmón derecho con secuestro del lóbulo inferior; las venas pulmonares derechas drenaron a un colector curvo en la porción suprahepática de la vena cava inferior y las venas pulmonares izquierdas lo hicieron a la aurícula izquierda. El secuestro pulmonar recibió irrigación a través de una colateral aortopulmonar. Existió una comunicación interauricular. Conclusiones La hipótesis patogenética propone que las conexiones venosas pulmonares de este síndrome representan la persistencia del horizonte XIV de Streeter (28-30 días de desarrollo), período en el que el seno de las venas pulmonares presenta conexión venosa doble con la aurícula izquierda y con un colector de la conexión primitiva que desemboca en la vitelina derecha de la que se deriva la porción suprahepática de la vena cava inferior.

Abstract Objectives To describe morphologically a toracoabdominal visceral block of a scimitar's syndrome case. We propose a pathogenetic theory wich explains the development of the pulmonary venous connection in this syndrome. Method The anatomic specimen was described with the segmental sequential system. The situs was solitus, the connections between the cardiac segments and the associated anomalies were determined. The anatomy of both lungs, including the venous pulmonary connection, was described. A pathogenetic hypothesis was made, which explains the pulmonary venous connection throw a correlation between the pathology of this syndrome and the normal development of the pulmonary veins. Results The situs was solitus, the connections of the cardiac chambers were normal; there were hypoplasia and dysplasia of the right lung with sequestration of the inferior lobe; the right pulmonary veins were connected with a curved collector which drainaged into the suprahepatic segment of the inferior vena cava; the left pulmonary veins were open into the left atrium. The sequestered inferior lobe of the right lung received irrigation throw a collateral aortopulmonary vessel. There was an atrial septal defect. Conclusions The pathogenetic hypothesis propose that the pulmonary venous connection in this syndrome represent the persistent of the Streeter's horizon XIV (28-30 days of development), period in which the sinus of the pulmonary veins has double connection, with the left atrium and with a primitive collector into the right viteline vein which forms the suprahepatic segment of the inferior vena cava.

[Scimitar syndrome. Correlation anatomo-embryological]. / Síndrome de la cimitarra. Correlación anatomoembriológica.

OBJECTIVES: To describe morphologically a toracoabdominal visceral block of a scimitar's syndrome case. We propose a pathogenetic theory wich explains the development of the pulmonary venous connection in this syndrome. METHOD: The anatomic specimen was described with the segmental sequential system. The situs was solitus, the connections between the cardiac segments and the associated anomalies were determined. The anatomy of both lungs, including the venous pulmonary connection, was described. A pathogenetic hypothesis was made, which explains the pulmonary venous connection throw a correlation between the pathology of this syndrome and the normal development of the pulmonary veins. RESULTS: The situs was solitus, the connections of the cardiac chambers were normal; there were hypoplasia and dysplasia of the right lung with sequestration of the inferior lobe; the right pulmonary veins were connected with a curved collector which drainaged into the suprahepatic segment of the inferior vena cava; the left pulmonary veins were open into the left atrium. The sequestered inferior lobe of the right lung received irrigation throw a collateral aortopulmonary vessel. There was an atrial septal defect. CONCLUSIONS: The pathogenetic hypothesis propose that the pulmonary venous connection in this syndrome represent the persistent of the Streeter's horizon xiv (28-30 days of development), period in which the sinus of the pulmonary veins has double connection, with the left atrium and with a primitive collector into the right viteline vein which forms the suprahepatic segment of the inferior vena cava.

Prevalence of Congenital Heart Disease and Pulmonary Hypertension in Down's Syndrome: An Echocardiographic Study.

BACKGROUND: Down's syndrome (DS) is a genetic anomaly, which undergoes increased morbidity and mortality when associated with congenital heart disease (CHD). The aims of the study were to determine the prevalence of CHD and pulmonary hypertension (PH) in DS. METHODS: One hundred twenty-seven patients with DS living in Mexico City were evaluated by physical exam, electrocardiogram and echocardiogram. RESULTS: CHD was found in 40%. In 80% (n = 102) PH was present [systolic pulmonary artery pressure (SPAP) of 47 ± 19 mm Hg and mean pulmonary artery pressure (MPAP) of 32 ± 11 mm Hg]. Patients with CHD and PH were classified as having 1) no shunt (n = 18) with SPAP of 37 ± 9 mm Hg and MPAP of 25 ± 6 mm Hg and 2) with shunt (n = 26) with PASP of 57 ± 29 mm Hg and MPAP of 38 ± 19 mm Hg (p ≤ 0.001). In those without CHD or with CHD without shunt (n = 76), SPAP was 37 ± 19 mm Hg and the MPAP 25 ± 6 mm Hg. The prevalence of PH in DS was 5.9% at one year and 15% at 10 years. The odds ratio of PH in DS with CHD was 7.3 vs. 3 without CHD. CONCLUSION: DS has a high prevalence of CHD and PH. PH prevalence increases when it is associated with CHD. The pathophysiology of PH in DS without CHD should be studied in the near future. Echocardiography is an indispensible tool for evaluation of DS.

Defecto de la tabicación atrioventricular con 2 válvulas asociado a ausencia del pericardio: Informe de un caso / Atrioventricular defect with 2 valves associated with absence of the pericardium: Report of a case

Presentamos el caso de una paciente con una malformación cardiaca que representa una forma de transición anatomoembriológica del defecto de la tabicación atrioventricular entre la forma de 2 válvulas y la que tiene una válvula común. Esta entidad además se asoció con ausencia de pericardio. A través de los diferentes estudios se ha establecido con precisión la secuencia diagnóstica, determinando cuál fue la aportación de cada método y aclarando además la nomenclatura del defecto de la tabicación atrioventricular.

We present a case of a patient with a cardiac malformation that represents a form of embryo-anatomical transition of an atrioventricular septal defect between a 2 valves form to a common valve form. This entity was associated with pericardium absence. Throughout several studies we have precisely established a diagnostic sequence by determining the adequate contribution of each method and we have been able to clear out the proper nomenclature of the atrioventricular cushion defect.

[Atrioventricular defect with 2 valves associated with absence of the pericardium. Report of a case]. / Defecto de la tabicación atrioventricular con 2 válvulas asociado a ausencia del pericardio. Informe de un caso.

We present a case of a patient with a cardiac malformation that represents a form of embryo-anatomical transition of an atrioventricular septal defect between a 2 valves form to a common valve form. This entity was associated with pericardium absence. Throughout several studies we have precisely established a diagnostic sequence by determining the adequate contribution of each method and we have been able to clear out the proper nomenclature of the atrioventricular cushion defect.

Doble salida de ventrículo derecho: Enfoque embriológico / Double outlet right ventricle: Embryological approach

Objetivo: Se presenta una explicación patogenética sobre la morfogénesis de la doble salida de ventrículo derecho que explica su origen. Método: Se describieron 35 corazones con doble salida de ventrículo derecho, 15 con grandes arterias ligeramente cruzadas, 10 con arterias lado a lado y 10 con aorta anterior y pulmonar posterior. Se comparó el plano de separación de las vías de salida y de las grandes arterias en los 3 tipos de esta cardiopatía, con el plano de la tabicación troncoconal normal del corazón embrionario. Se determinó el plano cefálico del tabique troncoconal y se comparó con la posición de su borde inferior, con lo cual se calculó el grado de torsión troncoconal en cada grupo de esta cardiopatía; esto permitió inferir el tipo de giro de ese tabique en las 3 formas anatómicas mencionadas. Resultados: En las grandes arterias ligeramente cruzadas el giro troncoconal fue de 135°,en las arterias lado a lado fue de 90°, en la aorta anterior derecha fue de 0° y en la aorta anterior izquierda fue de -90°. Conclusión: Embriológicamente esta cardiopatía se origina por persistencia de la continuidad entre el ventrículo derecho y el troncocono, que origina las vías de salida y las grandes arterias. Sus variantes anatómicas se originan por una detorsión progresiva del tabique troncoconal continuada con una torsión de -90°.

Objective: It is proposed a pathogenetic explanation that explains the morphogenesis of the anatomic variants of double outlet right ventricle. Method: An anatomic embryological correlation was made in which the plane separating the outlets and great arteries in the types of this cardiopathy was compared with the normal truncoconal septum in the embryonic heart. Thirty five hearts with double outlet right ventricle were described, fifteen with great arteries slightly crossed, ten with side by side great arteries and ten with anterior aorta and posterior pulmonary artery. The cephalic border of the truncoconal septum was compared with its inferior border in each group. With this procedure we calculated the type of torsion of the truncoconal septum. Results: In the slightly crossed great arteries the truncoconal twist was of 135° in side by side great arteries the twist was of 90° and in anterior right aorta the truncoconal septum was straight with 0° of rotation, and with left anterior aorta the rotation was of -90°. Conclusion: Embryologically double outlet right ventricle is originated by the persisting continuity between the right ventricle with the truncus and conus which form the great arteries and their outlets. The anatomic variations are the consequence of progressive detortion of the truncoconal septum followed by a torsion of -90°.

[Double outlet right ventricle. Embryological approach]. / Doble salida de ventrículo derecho. Enfoque embriológico.

OBJECTIVE: It is proposed a pathogenetic explanation that explains the morphogenesis of the anatomic variants of double outlet right ventricle. METHOD: An anatomic embryological correlation was made in which the plane separating the outlets and great arteries in the types of this cardiopathy was compared with the normal truncoconal septum in the embryonic heart. Thirty five hearts with double outlet right ventricle were described, fifteen with great arteries slightly crossed, ten with side by side great arteries and ten with anterior aorta and posterior pulmonary artery. The cephalic border of the truncoconal septum was compared with its inferior border in each group. With this procedure we calculated the type of torsion of the truncoconal septum. RESULTS: In the slightly crossed great arteries the truncoconal twist was of 135° in side by side great arteries the twist was of 90° and in anterior right aorta the truncoconal septum was straight with 0° of rotation, and with left anterior aorta the rotation was of -90°. CONCLUSION: Embryologically double outlet right ventricle is originated by the persisting continuity between the right ventricle with the truncus and conus which form the great arteries and their outlets. The anatomic variations are the consequence of progressive detortion of the truncoconal septum followed by a torsion of -90°.

[Uhl's anomaly. A case report with anatomoechocardiographic correlation]. / Anomalía de Uhl. Informe de un caso con correlación anátomo-ecocardiográfica.

UNLABELLED: Uhl's anomaly is an uncommon malformation of the right ventricle, which is characterized by the absence of the myocardium in the right ventricular free wall, while the tricuspid and pulmonary valves are morphologically normal. The aim of this work was to present a clinical case of a patient with Uhl's anomaly, to describe the echocardiographic findings and to perform an anatomoechocardiographic correlation with a corresponding specimen. This is a case report of a 33 year old man with suspicion of atrial septal defect, who was in functional class II of the NYHA and presented signs of right ventricular failure. The echocardiogram showed dilation of the right cavities, the free wall of the right ventricle was thin and smooth, and the tricuspid and pulmonary valves were normal, which prompted the diagnosis of Uhl's anomaly. Also, an anatomoechocardiographic correlation was done with an equivalent specimen of the Embryology Department from the Instituto Nacional de Cardiologia Ignacio Chavez's collection. CONCLUSIONS: Uhl's anomaly is an extremely rare entity. The clinical findings and echocardiography are the main tools for its diagnosis. The anatomoechocardiographic correlation was precise and allowed a better understanding of this anomaly."

Anatomic diagnosis of congenital heart disease. A practical approach based on the sequentiality principle.

Based on the sequentiality principle, this review proposes a practical method that allows the systematization of the anatomic diagnosis of congenital heart disease. We emphasize the need to use sequential connection between the different cardiac segments: atria, ventricles and great arteries. Five ordered steps are defined, which include determination of atrial situs and of the connection features between the ventricles and the great arteries. Related lesions and some additional special features are a second stage in the sequential analysis of congenital heart disease, which is also important for the integral diagnosis.

[Tetralogy of Fallot with pulmonary atresia. Morphopathology and surgical anatomy]. / Tetralogía de Fallot con atresia pulmonar. Morfopatología y anatomía quirúrgica.

The morphopathology of tetralogy of Fallot with pulmonary atresia is detailed as a spectrum of variations which is the foundation to highlight the surgical anatomy of this cardiopathy and it is the embryological basis which determines its structure. Thirty five hearts were studied with the methodology of the segmental sequential system. The atrial situs, the connections between the cardiac chambers and between the right ventricle and the arterial pulmonary vasculature were determined. The atrial situs was solitus, the concordant atrioventricular connection was the most frequent (33), the ventriculoarterial connections were concordant (17), double outlet right ventricle (9) and single outlet (9). All hearts had atresia of the pulmonary valve; the pulmonary trunk was hypoplastic (20), atretic proximally (6) and completely absent (9), confluent and hypoplastic pulmonary branches (25), absence of confluence (5), complete absence of pulmonary branches and arterial ducts (5) and presence of aortopulmonary collaterals (10). The hearts show a morphopathologic spectrum of severity which documents the tendency in disappearing the connection between the right ventricle and the intrapulmonary arterial circulation. The determination of the arterial supply to the lungs is highlighted to unifocalize the blood flow toward the lungs. The usefulness of Barbero Marcial's surgical classification is emphasized. The embryologic knowledge is basic in understanding the vascular connections between right ventricle and the derivatives of embryonic sixths aortic arches, the intrapulmonary arterial vessels and the aortopulmonary collaterals."

Isolated Ebstein's anomaly of mitral valve in an adult patient with systemic lupus erythematosus.

We present a rare case of isolated Ebstein's mitral valve anomaly, associated with systemic lupus erythematosus in an adult patient. We establish a correlation between the echocardiographic image of the patient and an anatomically equivalent heart.

Tetralogía de Fallot con atresia pulmonar: Morfopatología y anatomía quirúrgica / Tetralogy of Fallot with pulmonary atresia: Morphopathology and surgical anatomy

Se detalla la morfopatología de la tetralogía de Fallot con atresia pulmonar como un espectro de variaciones que sirve de fundamento para destacar la anatomía quirúrgica de esta cardiopatía y se muestra la base embriológica que determina su estructura. Se estudiaron 35 corazones con el sistema secuencial segmentario. Se determinó: situs atrial, conexiones entre los segmentos cardíacos y entre el ventrículo derecho y la vasculatura arterial pulmonar. El situs atrial fue solitus, predominó la conexión atrioventricular concordante (33), las conexiones ventriculoarteriales fueron concordantes (17), doble salida de ventrículo derecho (9) y única vía de salida (9). Todos presentaron atresia valvular pulmonar; el tronco pulmonar fue hipoplásico (20), atrésico proximal (6) y ausente (9), ramas pulmonares confluentes e hipoplásicas (25), ausencia de confluencia (5), ausencia total de ramas y de conductos arteriosos (5) y colaterales aortopulmonares (10). Los corazones mostraron un espectro morfopatológico de severidad que expresa la tendencia a la desaparición de la conexión entre el ventrículo derecho y la circulación arterial intrapulmonar. Se resaltan las formas de la irrigación arterial pulmonar como fundamento para unifocalizar el flujo hacia los pulmones y se hace hincapié en la utilidad de la clasificación anatomoquirúrgica de Barbero Marcial. El conocimiento embriológico es útil para entender las conexiones vasculares del ventrículo derecho con los derivados de los sextos arcos aórticos, los vasos arteriales intrapulmonares y las colaterales aortopulmonares.

The morphopathology of tetralogy of Fallot with pulmonary atresia is detailed as a spectrum of variations which is the foundation to highlight the surgical anatomy of this cardiopathy and it is shown the embryological basis which determines its structure. Thirty five hearts were studied with the methodology of the segmental sequential system. The atrial situs, the connections between the cardiac chambers and between the right ventricle and the arterial pulmonary vasculature were determined. The atrial situs was solitus, the concordant atrioventricular connection was the most frequent (33), the ventriculoarterial connections were concordant (17), double outlet right ventricle (9) and single outlet (9). All hearts had atresia of the pulmonary valve; the pulmonary trunk was hypoplastic (20), atretic proximally (6) and completely absent (9), confluent and hypoplastic pulmonary branches (25), absence of confluence (5), complete absence of pulmonary branches and arterial ducts (5) and presence of aortopulmonary collaterals (10). The hearts show a morphopathologic spectrum of severity which documents the tendency in disappearing the connection between the right ventricle and the intrapulmonary arterial circulation. The determination of the arterial supply to the lungs is highlighted to unifocalize the blood flow toward the lungs. The usefulness of Barbero Marcial's surgical classification is emphasized. The embryologic knowledge is basic in understanding the vascular connections between right ventricle and the derivatives of embryonic sixths aortic arches, the intrapulmonary arterial vessels and the aortopulmonary collaterals.