Aneurismas da Aorta Torácica: Avaliação Genética e de Imagem para Cirurgias Eletivas / Thoracic Aortic Aneurysm: Genetic and Image Evaluation for Elective Surgeries

Evidências mostram que variações genéticas de um único gene, denominadas “mutações genéticas”, predispõem indivíduos aos aneurismas e dissecções da aorta e seus ramos. Com a identificação dessas mutações, diretrizes sugerem o manuseio no diagnóstico, o momento ideal para a correção cirúrgica e a identificação de indivíduos sob alto risco de ruptura ou dissecção e suas respectivas famílias. Essas mutações podem se apresentar de forma “sindrômica”, com identificação fenotípica simples ou apresentação “familiar”. Nos indivíduos sem características fenotípicas, a ocorrência familiar da mutação genética deve ser investigada através da história familiar, exames de imagem e através de marcadores genéticos.

Evidence shows that genetic variations in a single gene called gene mutations predispose individuals to aneurysms and dissections of the aorta and its branches. With the identification of these mutations, guidelines suggest that diagnosis management is the idealtime for surgical correction and the identification of individuals at high risk of rupture or dissection and their families. These mutations may be present in a syndromic way with simple phenotypic identification or family presentation. In individuals without phenotypic characteristics, familial occurrence of genetic mutation should be investigated through the family history, imaging scansand through genetic markers.

Use of real-time three-dimensional transesophageal echocardiography in type A aortic dissections: Advantages of 3D TEE illustrated in three cases.

Stanford type A aortic dissections often present to the hospital requiring emergent surgical intervention. Initial diagnosis is usually made by computed tomography; however transesophageal echocardiography (TEE) can further characterize aortic dissections with specific advantages: It may be performed on an unstable patient, it can be used intra‑operatively, and it has the ability to provide continuous real‑time information. Three‑dimensional (3D) TEE has become more accessible over recent years allowing it to serve as an additional tool in the operating room. We present a case series of three patients presenting with type A aortic dissections and the advantages of intra‑operative 3D TEE to diagnose the extent of dissection in each case. Prior case reports have demonstrated the use of 3D TEE in type A aortic dissections to characterize the extent of dissection and involvement of neighboring structures. In our three cases described, 3D TEE provided additional understanding of spatial relationships between the dissection flap and neighboring structures such as the aortic valve and coronary orifices that were not fully appreciated with two‑dimensional TEE, which affected surgical decisions in the operating room. This case series demonstrates the utility and benefit of real‑time 3D TEE during intra‑operative management of a type A aortic dissection.

Aneurisma toracoabdominal / Thoracoabdominal aneurysm

Los aneurismas toracoabdominales son poco frecuentes; según la literatura su incidencia es de 1 por cada 100.000 personas siendo esto estimado en la incidencia de los aneurismas abdominales 1-3%. La edad media de aparición es de 65 años y en su mayoría la principal causa es de enfermedad aterosclerótica. La clasificación de los aneurismas toracoabdominales es en base a la que describió Crawford: Tipo I- Tipo IV. En la Unidad de Cirugía Cardiovascular de Guatemala se trató un caso de un paciente joven con un aneurisma toracoabdominal según la clasificación de Crawford Tipo III.

Thoracoabdominal aneurysms are a rare disease; according to the literature the incidence is 1 per 100,000people this being estimated incidence of abdominal aneurysms 1-3%. The average age of onset is 65 yearsold and mostly the main cause is atherosclerotic disease. The classification of thoracoabdominal aneurysms isbased on that described Crawford: Type I-Type IV. In the Unidad de Cirugía Cardiovascular de Guatemala acase of a young patient with thoracoabdominal aneurysm was treated as classified by Crawford type III.

Right-sided aortic arch with Kommerell's aneurysm.

We present a case report of a 55‑year‑old lady who presented with progressive dysphagia and was diagnosed with a Kommerell’s aneurysm and a right‑sided aortic arch. This case report outlines our management strategy and the challenges encountered during the perioperative period in a patient with this rare anomaly.

Aneurismas de la aorta torácica: historia natural, diagnóstico y tratamiento / Thoracic aortic aneurysm: natural history, diagnosis and management

Los aneurismas corresponden a una dilatación arterial localizada que es producida por una debilidad de la pared; se clasifican en verdaderos y falsos. La incidencia es de aproximadamente 6 - 10 casos por 100.000 habitantes al año y los aneurismas de la aorta ascendente son los más frecuentes dentro del grupo de los aneurismas de la aorta torácica (AAT). Habitualmente se generan como resultado de una necrosis quística de la media que suele estar asociada a otras patologías. Los aneurismas suelen pesquisarse de manera incidental mediante exámenes imagenológicos solicitados por diferentes motivos. Su historia natural no está completamente clarificada, pero en términos generales los AAT tienen un crecimiento promedio de 0,1 cm por año. La angiografía por tomografía computada o por resonancia magnética, son los exámenes de elección para el diagnóstico. Para aquellos pacientes con aneurismas pequeños que no requieren cirugía, las medidas orientadas a la reducción del riesgo de ateroesclerosis son el pilar del tratamiento. Para los aneurismas de la aorta ascendente que cumplan con los requisitos, requieran de revascularización coronaria o reemplazo valvular, se recomienda el tratamiento quirúrgico. En relación a los aneurismas del cayado aórtico las opciones terapéuticas son tres: cirugía, terapia endovascular y terapia combinada. Para los aneurismas de la aorta descendente la terapia endovascular se perfila como la más eficiente. Los pacientes sin indicación de tratamiento quirúrgico o endovascular deben ser controlados de manera seriada con estudios imagenológicos.

Aneurysms are defined as a localized dilatation caused by a weakness in the arterial wall. and may be classified as true or false aneurysm. The incidence is estimated to be 6-10 cases per 100,000 patient years. Aneurysms of the ascending aorta are the most common within the group of thoracic aortic aneurysms (TAA). These often result from cystic medial degeneration, which tends to be associated with other pathologic entities. Aneurysms are diagnosed most commonly on imaging studies performed for an unrelated indication. Although its natural history remains unclear, it is known that current average growth is about 0.1 cm per year. Computed tomography angiography (CTA) and magnetic resonance angiography (MRA) are the preferred imaging tests to detect aortic aneurysms. Measures aimed to reduce atherosclerosis risk are the main treatment objective for patients with smaller aneurysms that do not require surgery. When ascending aortic aneurysms meet the size criteria or coronary revascularization and aortic valvular replacement are necessary, surgical treatment it's recommended. For aortic arch aneurysms, there are three therapeutic alternatives: surgery, endovascular therapy and combined therapy. For descending aortic aneurysms, endovascular therapy is the preferred procedure. Patients with no indication for surgical or endovascular therapy, should be followed up with serial imaging studies.

Aneurismas de aorta torácica e dissecção aórtica / Thoracic aortic aneurysms and aortic dissection

Doença da aorta é uma patologia significante e representa a 12ª maior causa de morte. Apesar de os aneurismas da aorta abdominal e aorta ascendente serem mais comum, aneurismas de aorta ascedentes (AATs) são uma significante contribuição para a patologia. AATs aumentam o risco de dissecção da aorta ou ruptura e representam uma importante fonte de morbidade e mortalidade. Podem ser classificadas como sindrômicas, familiares ou esporádicas. As formas sindrômicas incluem a Síndrome de Marfan, Síndrome de Loeyes-Dietz, Homocistinúria, Sindrome de Ehlers-Danlos, Síndrome B A V e Síndrome de Turner. Em vários casos, já existem testes genéticos específicos que permitem um diagnóstico precoce da patologia em familiares de indivíduos afetados que permitem o acompanhamento precoce com melhora da qualidade de vida e sobrevida desses indivíduos.

Aortic disease is a significant pathology and represents the 12th leading cause of death. Although aneurysms of the ascending aorta and abdominal aorta are more common, descendents aortic aneurysms (TAAs) are a significant contribution to the pathology. TAAs increase the risk of aortic dissection or rupture and represent an important source of morbidity and mortality. They can be classified as syndromic, familial or sporadic. The syndromic forms include Marfan syndrome, Dietz-Loeyes Syndrome, homocystinuria, Ehlers-Danlos syndrome, Turner syndrome and BAV syndrome. In several cases, specific genetic tests are already available and allow an early diagnosis of pathology in relatives of affected individuals that can lead to an early monitoring and improve the quality of life and survival of these individuals.

Aneurisma aorta torácica y falla cardíaca manejado con transplante cardíaco: descripción de un caso clínico / Aorta thoracic aneurysm and cardiac failure treated with cardiac transplant: description of a clinical case

Alrededeor de un 25% de aneurismas aórticos degenerativos afectan a la aorta torácica. En la mayoria de los casos afectan al arco y a la aorta desendente, a diferencia de los luéticosque tienen mayor frecuencia en aorta ascendente. A veces toda la aorta es estásica presentando multiples dilataciones que se extienden a aorta abdominal, dando lugar a aneurisma toracoabdominales. Existen factores predisponentes como la edad, hipertensión sistémica arterial (HTA), anomalias congénitas de la válvula aórtica, transtornos hereditarios del sistema conectivo, traumáticos y otros. Afecta a pacientes entre la quinta y la séptima décadas de la vida, siendo más frecuente en varones (3:1). En menores de 40 años la frecuencia es similar en ambos sexos, debido a la mayor frecuencia en mujeres durante el trecer trimestre del embarazo. La HTA es encontrada en el 80% de los casos, siendo el segundo factor predisponente en importancia.

Around 25% of degenerative aortic aneurysms affect the thoracic aorta. In the majority of cases they affect the arch and the descending aorta, unlike luetic aneurysms, which are more frequent in the ascending aorta. Sometime the entire aorta is in a state of stasis, presenting multiple dilatations that extend to the abdominal aorta giving rise to thoracoabdominal aneurysms. There are predispositional factors, among them systemic arterial hypertension (SAH), congenital anomalies of the aortic valve, hereditary connective system disorders and traumatisms. This condition affects patients in their 50s to 70s and is most frequent in males (3:1). In the under-40s, frequency is similar in both sexes, owing to the higher frequency among women during the third trimester of pregnancy. SAH is found in 80% of cases, being the second most important predispositional factor.

Linfoma periaórtico tóraco-abdominal, que simula un síndrome aórtico agudo y revisión de la literatura / Thoracoabdominal periaortic lymphoma mimicking acule aortic syndrome. Report of one case

Systemic lymphoma that involves the aorta is called periaortic lymphoma, and may be misdiagnosed clinically or in CT sean, mimicking a thoracic aortic aneurysm, dissection, penetrating ulcer or an intramural hematoma. We report a 70 year-old woman in whom a systemic non-Hodgkin 's lymphoma ivas diagnosed after she presented with the clinical features of an acute aortic syndrome. A CT sean showed the presence of a large thoracoabdominal periaortic soft tissue mass without aneurism or dissection. Later, a biopsy of the mass was performed which showed a non-Hodgkin's lymphoma. Chemotherapy with CHOP-R was effective, with complete initial resolution of the mass, developing in the follow up chylothorax, malnutrition and death.

Aneurisma de la aorta torácica en coartación aórtica sin cirugía previa: presentación de dos casos / Thoracic aortic aneurysm associated with aortic coarctation without previous surgery: report of two cases

La arteria aorta generalmente se vuelve aneurismática por efectos hemodinámicos, lo cual es poco común en niños y más aún asociada a coartación aórtica. La posibilidad de formación de aneurismas es rara sin antecedentes de procedimientos quirúrgicos o endovasculares en la aorta. Este trabajo presenta dos pacientes, un adolescente y un niño, con asociación de aneurisma de la aorta torácica y coartación aórtica, sin antecedentes de cirugía o procedimiento intervencionista.

The aorta usually becomes aneurysmatic as a result of hemodynamic effects. It is uncommon in children and less frequently associated with aortic coarctation. Aneurysmatic formation is rare without previous endovascular or surgical procedures. We present two rare cases of aortic aneurysm associated with aortic coarctation without previous corrective procedure in pediatric patients.

Reparo endovascular de aneurisma de aorta torácica: experiência de 16 casos / Stent-graft repair of thoracic aortic aneurism: experience of 16 cases

Os aneurismas dissecantes e as rupturas de aorta torácica têm sido de difícil resolução. O reparo endovascular de aneurisma de aorta torácica apresenta considerável potencial e vantagens sobre a abordagem cirúrgica como tratamento, devido em parte ao reparo cirúrgico estar associado a altas taxas de mortalidade. Relatar a experiência com uso de endopróteses auto-expansíveis no tratamento de pacientes selecionados, portadores de aneurismas ou dissecções comprometendo...

Involução de artérias colaterais aneurismáticas após a correção da coarctação da aorta / Involution of aneurysmal collateral arteries after correction of aortic coarctation

Paciente de 47 anos de idade, com diagnóstico de coarctação da aorta, foi submetido ao implante de tubo extra-anatômico por toracotomia esquerda. Dez anos após o procedimento, o paciente retorna com hipertensão arterial de difícil controle relacionada a coarctação da aorta residual, obstrução do tubo e múltiplos aneurismas de artérias colaterais entre a artéria subclávia e a aorta. O paciente foi submetido então a correção extra-anatômica entre a aorta ascendente e a descendente por esternotomia mediana, com auxílio de circulação extracorpórea convencional. Sua recuperação pós-operatória foi boa, e houve involução completa de todas as artérias colaterais aneurismáticas após a operação.

A 47 year-old man with aortic coarctation had undergone extra-anatomic bypass through a left thoracotomy. He presented 10 years later with uncontrolled arterial hypertension due to residual aortic coarctation, graft obstruction and multiple collateral artery aneurysms between the subclavian artery and the aorta. He underwent extra-anatomic correction between the ascending aorta to descending aorta through a median sternotomy with the aid of conventional cardiopulmonary bypass. His postoperative recovery was unremarkable, and there was complete involution of all aneurysmal collateral arteries after the operation.

Type A aortic dissection presenting as acute ischemic stroke caution for thrombolytic therapy: a case report and literatures review.

The authors reported a patient who had type A aortic dissection presenting with sudden onset of right hemiplegia and depressed consciousness. CT scan of brain showed acute cerebral infarction of left corona radiata, posterior limb of left internal capsule combined with left hemispheric brain swelling. An old cerebral infarction at the posterior limb of right internal capsule was also noted Clinical signs of aortic regurgitation and difference in blood pressures and amplitude of pulses on both arms were associated. Initial chest x-ray revealed widening of the mediastinum. CT scan of chest revealed dissecting aorta extending from the ascending aorta to the mid of the descending aorta. Surgical correction of the aorta was refused and the patient was treated medically with partial neurological deficit. No additional cardiovascular events occurred.

Descending thoracic aortic aneurysm presenting as left sided hemorrhagic pleural effusion.

Aneurysm of descending thoracic aorta, in majority of cases is diagnosed either by chance in routine chest imaging for some other reasons or rarely due to it's symptomatic presentation like chest pain and other mediastinal compression symptoms. In this case report we present a case of 69 year old smoker who presented with cough, hemoptysis and left sided massive painless hemorrhagic pleural effusion. Further investigation revealed a large aneurysm of descending thoracic aorta which infiltrated the left lung. We suggest descending thoracic aneurysm be included in the differential diagnosis of this sort of clinical presentation which otherwise imperative with the clinical scenario of bronchogenic carcinoma.

One stage hybrid repair of aortic arch aneurysms with antegrade endovascular graft deployment

Despite advances in surgical technique and intensive care medicine, the mortality and morbidity of standard single or two staged approaches for the management of arch aortic aneurysms remain extremely high. With the elephant trunk technique, some patients never proceed to completion of treatment either because of worsening co-morbidity or interim rupture. Retrograde thoracic endografting is not always feasible and its complications are well known. This study examines the use of a hybrid approach for treating arch aneurysms in one stage. The technique combines open aortic arch debranching with antegrade stent repair of these aneurysms. In this series three women and nine men with aneurysms involving the arch, ascending and descending thoracic aorta were treated. Their median age was 66 years. Most aneurysms were degenerative in aetiology [50%. The rest were either dissecting or secondary to Marfan's disease. One patient had the ascending aorta replaced prior to presenting with the arch problem. All other patients were put on cardiopulmonary bypass and had their ascending aorta replaced with or without further concomitant cardiac procedures. Cerebral perfusion was maintained antegrade at 24[degree sign] C through right axillary artery cannulation. This was followed by debranching of the arch of aorta and closure of the origins of the innominate, left common carotid and left sub-clavian arteries. The thoracic endografts were then introduced antegrade through a side arm connected to the body of the main aortic graft. No attempt was made to revascularise the left sublcavian artery. All patients were followed-up with CT scans. No patients was lost to follow-up. It was possible to complete the procedure in a single stage in all patients. The mean operative time was 5.7 hours. There was no intraoperative mortality. There were no intra or postoperative coagulation problems. Two patients had immediate type II endoleak that disappeared completely in one month. One patient died postoperatively having developed acute renal failure and chest infection. Acute renal failure requiring temporary dialysis occurred in three other patients. One patient developed delayed paraparesis that recovered with CSF drainage. One patient suffered with lower medial quadranopia in the right eye. There were no strokes or permanent spinal neurological deficits. Two patients with history of COPD required prolonged respiratory support. They were no long term complications secondary to occlusion of the left subclavian artery. The median length of ITU stay was 5.1 days. The mean length of hospital stay was 15.8 days. During a median follow-up duration of 8.8 months two patients were successfully treated for type II endoleak and one patient developed type 1 endoleak that required extension of the bottom end of the endografts. All aortic debranching grafts remain patent to last follow-up. One stage hybrid repair of aneurysms involving the aortic arch is a feasible technique. The preliminary results of this series show low mortality and complications rate. Larger series with longer follow-ups are underway

Aneurisma tóraco-abdominal inflamatório / Inflammatory thoracoabdominal aneurysm

Os autores relatam o caso de um paciente apresentando aneurisma tóraco-abdominal tipo IV de etiologia inflamatória. Esse paciente foi submetido à correção cirúrgica eletiva através de incisão tóraco-abdominal, rotação medial das vísceras, com dificuldade, devido às aderências, e utilização de perfusão visceral durante o pinçamento supracelíaco, com um circuito de circulação extracorpórea modificado.

The authors report an unusual case of a patient with a type IV thoracoabdominal inflammatory aneurysm. This patient was submitted to surgery through a thoracoabdominal incision, medial visceral rotation with difficulty due the adherences and visceral perfusion during the supraceliac clamping with a modified assisted circulatory device.