Malformaciones arteriovenosas pulmonares: presentación de un caso clínico pediátrico y revisión de la literatura / Pulmonary arteriovenous malformations: presentation of a pediatric case and review of the literature

Las malformaciones arteriovenosas pulmonares (MAVP) consisten en comunicaciones directas entre el sistema arterial y el sistema venoso pulmonar, sin paso de la sangre por el lecho capilar, produciéndose un cortocircuito de derecha a izquierda extracardíaco, pueden ser congénitas o adquiridas. Algunos casos pueden ser asintomáticos, en cambio en otros pueden ocasionar diversas manifestaciones clínicas y se pueden asociar a complicaciones severas. En niños se observa una baja incidencia y son más frecuentes las formas congénitas. La MAVP se debe sospechar por las manifestaciones clínicas y las imágenes de la radiografía de tórax (RxTx) y su confirmación se realiza mediante una AngioTomografía Computada (TC) de tórax. La embolización endovascular es actualmente el tratamiento de elección, con excelentes resultados, aunque requiere de un seguimiento posterior y de un operador experimentado. Reportamos el caso de una niña que ingresó con clínica muy sugerente, incluyendo: disnea, acropaquia, cianosis periférica, e hipoxemia refractaria. Sin embargo, inicialmente el cuadro clínico fue confundido con una crisis asmática. La Angio-TC de tórax confirmó el diagnóstico y el tratamiento mediante embolización endovascular resultó exitoso.

Pulmonary arteriovenous malformations (PAVM) are communications between the arterial and the pulmonary venous system, without passage of blood through the capillary bed, causing a left to right extracardiac shunt. Some cases may be asymptomatic, while others may cause various clinical manifestations and may be associated with severe complications. In children a low incidence is observed, and congenital forms are more frequent. PAVM should be suspected by clinical manifestations and chest x-ray imaging and confirmed by chest Computed Tomography Angiography (CTA). Endovascular embolization is currently the treatment of choice, with excellent results, although it requires subsequent follow-up. We report a patient who was admitted with a very suggestive clinical history, including: dyspnea, clubbing, peripheral cyanosis, and severe hypoxemia, refractory to oxygen therapy. However, initially the clinical picture was confounded with an asthmatic crisis. CTA confirmed the diagnosis and treatment by endovascular embolization was successful.

Ruptura de vena cava inferior secundaria a uso de sonda de ecografía intracardiaca tratada de manera exitosa con balón de alta distensibilidad / Inferior vena cava rupture associated with the use of an intracardiac echocardiography probe and successfully treated with a high-compliance balloon

Resumen La ruptura de la vena cava inferior durante los procedimientos de intervencionismo percutáneo es una complicación infrecuente que se asocia con alta tasa de mortalidad aunque sea detectada a tiempo y se realice reparo quirúrgico, el cual es hoy el estándar de manejo. No existen hasta el momento casos reportados de manejo percutáneo de perforación de la vena cava durante procedimientos de electrofisiología. Se describe el caso de una paciente llevada a aislamiento eléctrico de venas pulmonares para el manejo de fibrilación auricular paroxística, en quien, durante el procedimiento, se produjo perforación accidental de la vena cava inferior con la sonda de ecocardiografía intracardiaca, la cual fue tratada exitosamente mediante el uso de un balón de alta distensibilidad con lo que se logró adecuada hemostasia sin necesidad de intervención quirúrgica. Se considera que el uso de un balón de alta distensibilidad puede ser una herramienta útil en el control del sangrado asociado a lesiones vasculares iatrogénicas, y que por consiguiente todo intervencionista debería tener presente.

Abstract Rupture of the inferior vena cava during percutaneous intervention procedures is an uncommon complication. It is associated with a high rate of mortality, even when it is detected at the time and the current standard management, surgical repair is performed. At present there are no cases reported of the percutaneous management of a vena cava perforation during electrophysiology procedures. The case is described of a patient subjected to electric ablation of pulmonary veins for the management of paroxysmal atrial fibrillation. During the procedure there was an accidental rupture of the inferior vena cava with the echocardiography cardiac catheter. She was successfully treated using a high-compliance balloon, with adequate haemostasis being achieved without surgical intervention. The use of a high-compliance balloon is considered as a useful tool in the control of bleeding associated with iatrogenic vascular injuries, and for this reason all interventionist should be aware of it.

Rare association between atrioventricular septal defect and partial anomalous pulmonary venous connection

Abstract Clinical data: Infant, 7 months, female, referred to our department at one month of age, suspecting of congenital heart disease for further investigation. Chest radiography: Demonstrates cardiomegaly and prominent pulmonary vascular markings. Electrocardiography: Shows right ventricular hypertrophy and left anterior fascicular block. Echocardiography: Evidenced common atrioventricular valve with two orifices and the left superior pulmonary vein draining on the brachiocephalic vein. Computed tomography angiography: This complementary imaging exam was performed to confirm the diagnosis. Diagnosis: The patient presented an association between AVSD and PAPVC, a rare combination. The clinical picture of heart failure was preponderant, characterized by need for diuretics and complementary exams findings, and early surgical treatment was indicated. Operation: The operation was performed through a median sternotomy with 123 minutes of cardiopulmonary bypass and 89 minutes of cross-clamping time. The patient had no postoperative complications, remaining 10 days hospitalized.

Mal-positioning of dialysis catheter in anomalous left superior pulmonary vein in a patient with acute type a dissection, a case report

Abstract The partial anomalous pulmonary vein drainage is a rare congenital defect. The pulmonary vein drains in to a systemic vein instead of draining in to the left atrium. In this rare birth defect, the right sided pulmonary vein involvement is more prevalent than the left sided pulmonary veins. We present a case where the anomalous left superior pulmonary vein was diagnosed when a renal dialysis catheter (size = 12F x 16cm) was mal-positioned in to the Anomalous left superior pulmonary vein, demonstrating confusing blood results. We describe how a systematic multidisciplinary approach and use of advanced imaging techniques can recognise and deal with this rare clinical dilemma.

Conexión venosa pulmonar anómala: reporte de un caso / Anomalous pulmonary venous connection: a case report

RESUMEN: Las conexiones anómalas de venas pulmonares fueron descritas por primera vez en 1739. Las anomalías de drenaje de las venas pulmonares se deben a una alteración temprana (día 27-30 del desarrollo) momento en el cual los plexos venosos pulmonares están en conexión con las venas de los sistemas cardinal, umbilical y vitelino, estas conexiones involucionan y el drenaje venoso deriva hacia el atrio izquierdo a través de la vena pulmonar común. En este trabajo presentamos una conexión venosa pulmonar anómala parcial, su conocimiento es relevante pues se asocia en un 80 % a defectos cardiacos, principalmente comunicaciones interatriales. Disección de rutina de un cadáver adulto, de sexo masculino, a nivel del pedículo pulmonar izquierdo. Se describe una vena originada en el lobo pulmonar superior izquierdo que abandona el hilio pulmonar por delante del bronquio, realizando un trayecto ascendente de 10 cm de longitud desde el hilio para terminar desembocando en la vena braquiocefálica izquierda. La vena anómala drena el territorio del lobo superior del pulmón izquierdo. Por su disposición y relaciones, esta vena de trayecto anómalo tiene su origen en la persistencia de las conexiones del sistema venoso pulmonar, en especial las que se establecen con el sistema cardinal anterior izquierdo. Este hallazgo destaca la riqueza y relevancia clínica de la disección en la formación de profesionales de la salud.

SUMMARY: The anomalous connections of the pulmonary veins were first described in 1739. The drainage anomalies of the pulmonary veins are due to an early alteration (day 27-30 of development), during this period the pulmonary venous plexuses are in connection with the cardinal, umbilical and vitelline vein systems. These venous connections return and drain into the left atrium through the common pulmonary vein. In this work we present a partial anomalous pulmonary venous connection. Knowledge of this connection is relevant because it is associated to 80 % of cardiac defects, mainly interatrial communications. During a routine dissection of an adult male cadaver, a vein originating in the left upper lobe was found. The vein originates at the pulmonary hilum in front of the bronchus, with an ascending path of a 10 cm length from the hilum, concluding its trajectory in the left brachiocephalic vein. The anomalous vein drains the left upper lobe of the lung. This anomalous vein originates within the connections of the pulmonary venous system, particularly those found in the left anterior cardinal vein system. This finding highlights the importance and clinical relevance of dissection in the training of health professionals.

A rare case of centronuclear myopathy with DNM2 mutation: genotype­phenotype correlation

Centronuclear myopathy (CNM) is a group of rare genetic muscle disorders characterized by muscle fibers with centrally located nuclei. The most common forms of CNM have been attributed to X-linked recessive mutations in the MTM1 gene; autosomal-dominant mutations in the DNM2 gene-encoding dynamin-2, the BIN1 gene; and autosomal-recessive mutations in BIN1, RYR1, and TTN genes. Dominant CNM due to DNM2 mutations usually follows a mild clinical course with the onset in adolescence. Currently, around 35 mutations of the DNM2 gene have been identified in CNM; however, the underlying molecular mechanism of DNM2 mutation in the pathology of CNM remains elusive, and the standard clinical characteristics have not yet been defined. Here, we describe the case of a 17-year-old female who presented with proximal muscle weakness along with congenital anomalous pulmonary venous connection (which has not been described in previous cases of CNM), scoliosis, and lung disease without a significant family history. Her creatine kinase level was normal. Histology, special stains, and electron microscope findings on her skeletal muscle biopsy showed CNM with the characteristic features of a DNM2 mutation, which was later confirmed by next-generation sequencing. This case expands the known clinical and pathological findings of CNM with DNM2 gene mutation.

Pulmonary arteriovenous malformation: a culprit of middle lobe syndrome?

Middle lobe syndrome [MLS] refers to lobar atelectasis and bronchiectasis and is either obstructive or non-obstructive type. A 63-year-old asthmatic female patient presented with recurrent pneumonia and unrelenting cough which proved to be due to pulmonary arteriovenous malformation that led to obstructive MLS. CT scan showed right middle lobe volume loss, bronchiectasis and dilated pulmonary vessels. The patient was operated for right middle lobectomy. The pathological examination revealed pulmonary arteriovenous malformation with post obstructive changes. Pulmonary arteriovenous malformation should be part of the differential diagnosis of MLS and should prompt early referral for surgery. Middle lobe is anatomically susceptible to obstruction of the bronchus and to atelectasis due to its poor drainage and ventilation. Conservative treatment with antibiotics, bronchodilators, and chest physiotherapy are effective in 33.3 to 66.6% of patients. Lobectomy is required in a third of MLS patients who fail conservative management or have persistent symptoms that last more than 6 months or have malignant obstruction

Síndrome da cimitarra: A propósito de três casos singulares / Scimitar syndrome: the purpose of three individual cases

Os autores relatam três casos de síndrome da cimitarra (SC), que em sua forma habitual cursa com drenagem venosa anômala no pulmão direito, de aspecto radiográfico característico, hipoplasia no referido pulmão e dextroposição cardíaca. Enfatizam sobre a radiografia simples do tórax, como principal exame na investigação diagnóstica, e o valor do estudo angiográfico, na elucidação de anomalias vasculares quando houver indicação cirúrgica. Outros exames complementares, como a tomografia computadorizada, são avaliados para a perfeita caracterização dessa síndrome e de suas variantes...

The authors write about three cases of scimitar syndrome which, commonly, releases as an atypical venous drainage of the right lung, with characteristic image, as well as hypoplasia of the same lung and dextropositioned heart. They emphasize the thoracic radiographic image as the most important complementary method of diagnosis and the importance of the angiographic study for the diagnose of vascular abnormalities with surgical indication. Other exams such as computerized tomography are of value in characterization of syndrome and its variants...

Utilidad de la Endoprótesis en Síndrome de vena cava superior / Benefits of the endoprosthesis in superior vena cava syndrome

El síndrome de vena cava superior, se corresponde a la obstrucción de la misma, siendo su causa más frecuente la etiología neoplásica. Objetivos: Se realiza el análisis y la presentación del siguientecaso clínico con el objetivo de considerar la utilidad de laendoprótesis. Caso Clínico: Paciente de 61 años, masculino que ingresa porsíndrome de vena cava superior. Se le realiza Tac Torácica con presencia de tumor hiliar derecho en ubicación retrocavopretraqueal que estenosa a la vena cava superior. Con mala evolución del cuadro se decide colocación de endoprotesis vascular. Aliviando la sintomatología para luego realiza eldiagnostico. Discusión: dado que el tratamiento de esta entidad es tratar lacausa de la obstrucción, se debe tener en cuenta la repercusión que genera, llevando inclusive a la muerte del paciente. Por lo que es de utilidad resolver la dificultad con la colocación de una endoprotesis, para luego estudiar y diagnosticar la etiología y asícondicionar un tratamiento adecuado...

The superior vena cava syndrome, corresponds to the obstruction of the superior vena cava, and its most common cause neoplastic etiology. Objectives: Analysis and presentation of the following case inorder to consider the usefulness of the endoprosthesis is made. Case presentation: A 61 year old male was admitted with superior vena cava syndrome. He takes Tac Thoracic presence of right hilar tumor location retrocavopretraqueal stenosing thesuperior vena cava. With bad symptom onset vascular endoprosthesis placement is decided. Relieving the symptoms and then performs the diagnosis. Discussion: Because the treatment of this entity is to treat thecause of the obstruction, must take into account the impact it creates, even leading to death. It is useful to solve the difficulties with the placement of a stent, and then study and diagnose theetiology and thus an appropriate treatment...

Oclusión percutánea de la vena vertical con un Amplatzer® Vascular Plug: Informe de un caso / Endovascular occlusion of the vertical vein with an Amplatzer® Vascular Plug: Case report

El uso del Amplatzer® Vascular Plug (St. Jude Medical-Minnesota, EE. UU.) se ha diversificado y ha sido descrito con éxito en diferentes escenarios clínicos. Se describe otra aplicación para este dispositivo, presentando el caso de una paciente con antecedente de corrección de conexión anómala total de venas pulmonares a quien se le realizó oclusión de una vena vertical permeable con un Amplatzer® Vascular Plug.

The use of the Amplatzer® Vascular Plug has diversified and has been described successfully in different clinical settings. We describe another application for this device, presenting the case of a patient with a history of correction of total anomalous connection of pulmonary veins, who underwent occlusion of the unligated vertical vein with the Amplatzer® Vascular Plug.

Signo de la cimitarra / Scimitar sign

The scimitar sign refers to the image resembling a short, curved Turkish sword called scimitar, created by an anomalous pulmonary vein. It can be seen in chest radiography, computed tomography and magnetic resonance. It forms part of the scimitar syndrome, characterized by partial or total anomalous pulmonary venous drainage, associated with hypoplasia of the right lung and dextrocardia. Depending on the magnitude of the right-to-left shunt, it may present in children with pulmonary hypertension and right cardiac failure, or as asymptomatic imaging findings in adults.

El signo de la cimitarra es la imagen creada por una vena pulmonar anómala similar a una espada turca, corta y curva llamada cimitarra. Se puede ver en radiografía de tórax, tomografía computada y resonancia magnética. Forma parte del síndrome de la cimitarra, caracterizado por un drenaje pulmonar anómalo, parcial o total, asociado a hipoplasia del pulmón derecho y dextrocardia. Dependiendo de la magnitud del shunt de derecha a izquierda producido, se puede presentar en edades infantiles con hipertensión pulmonar y falla cardiaca derecha, o en adultos, de manera asintomática, como hallazgo imagenológico.