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Ascending Aortic Disease in a Patient with Marfan Syndrome

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Ascending Aortic Disease in a Patient with Marfan Syndrome Case reports 2017; 3(2) https://doi.org/10.15446/cr.v3n2.61493 ASCENDING AORTIC DISEASE IN A PATIENT WITH MARFAN SYNDROME Palabras clave: Aneurisma de la Aorta; Cirugía torácica; Aorta Torácica; Disección aórtica aguda, Marfan. Keywords: Aortic Aneurysm; Thoracic surgery; Thoracic aorta; Acute Aortic Dissection, Marfan. Edison Ricardo Espinoza Saquicela General Surgeon Cardiothoracic Surgery resident Instituto Nacional de Cardiología Ignacio Chávez Universidad Nacional Autónoma de México Mexico City – México Stefanía del Cisne Serrano Olmedo General Surgeon Urology resident. Hospital Juárez de México Universidad Nacional Autónoma de México Mexico City - México Corresponding author: Edison Ricardo Espinoza Saquicela Instituto Nacional de Cardiología Ignacio Chávez Universidad Nacional Autónoma de México Ciudad de México. México Email: [email protected] Received: 10/12/2016 Accepted: 15/10/2017 ascending aortic disease in a patient with marfan syndrome ABSTRACT this condition, hence the importance of prop- 99 er diagnosis and management. Introduction. Acute thoracic aortic dissection is caused by a tear in the intimal lining of RESUMEN the aorta, and is a symptom of acute aortic syndrome. The dissection allows the blood to Introducción. La incidencia de síndrome de pass through the rupture and separates the tu- Marfan que ha sido reportada a nivel mundial nica intima from the tunica media or the tunica es de 1 en 5000 casos, de los cuales apro- adventitia, creating a false intravascular light. ximadamente el 80% o más desarrollan com- Early diagnosis directly affects the chances of plicaciones cardiovasculares. La disección survival, since it is a medical emergency that aórtica torácica aguda requiere una rotura en can lead to death, even with optimal treatment. la íntima de la aorta, que forma parte del sín- drome aórtico agudo. En la disección, la san- Case description. The following report pres- gre pasa a través de la rotura y separa la ínti- ents the case of a 26-year-old man with a his- ma de la media o la adventicia, lo que crea una tory of Marfan syndrome, retrosternal lancinat- falsa luz intravascular. Un diagnóstico tempra- ing pain, nausea, vomiting, and medium effort no incide directamente en las posibilidades dyspnea that evolved to orthopnea, perioral cy- de supervivencia, pues se trata de una emer- anosis, murmur of aortic insufficiency and mitral gencia médica que puede llevar a la muerte, systolic murmur. Complementary studies (chest incluso con un tratamiento óptimo. x-ray, electrocardiogram, angiography, tomog- raphy, and echocardiogram) were performed, Descripción del caso. Se presenta el caso obtaining a diagnosis of Stanford type A as- de un hombre de 26 años con antecedente cending aortic dissection. Surgical treatment de síndrome de Marfan, dolor retro esternal was indicated to replace the aortic root using a lancinante, náusea, vómito, disnea de media- composite prosthesis and Bentall and De Bono nos esfuerzos que evolucionó a ortopnea, cia- coronary reconstruction. During the procedure, nosis peribucal, soplo de insuficiencia aórtica right coronary button destructuration occurred, y soplo sistólico mitral. Se realizaron estudios so it was necessary to perform a venous bypass complementarios (radiografía de tórax, elec- with a left internal saphenous venous hemod- trocardiograma, angiografía, tomografía, eco- uct. Weaning extracorporeal circulation was cardiograma) y se le diagnosticó disección de achieved and then low expenditure of refracto- aorta ascendente tipo A Stanford, por lo que se ry character (despite vasopressor support at decidió iniciar tratamiento quirúrgico mediante maximum dose), refractory ventricular fibril- reemplazo de la raíz aórtica mediante prótesis lation and asystole were observed. The patient compuesta y reconstrucción coronaria tipo did not recover and died as a consequence of Bentall y de Bono. En el procedimiento se pre- acute transoperative myocardial infarction. sentó desestructuración de botón coronario de- recho, por lo que fue necesario realizar puente Conclusion. The treatment for ascending venoso con hemoducto venoso de safena inter- aortic dissection remains a therapeutic chal- no izquierdo. Se logró destete de circulación lenge. Timely diagnosis is directly related to extra corpórea y luego se observó bajo gasto de life expectancy in patients who suffer from carácter refractario (pese a soporte vasopresor Case reports Vol. 3 No. 2: 98-106 100 a dosis máxima), fibrilación ventricular refracta- nosis directly affects the chances of survival, ria y asistolia; el paciente no mostró recupera- since it is a medical emergency that can lead ción y falleció como consecuencia de un infarto to death, even with optimal treatment. agudo de miocardio transoperatorio. The Stanford classification is used to bet- ter understand aortic dissection. It is divided Conclusión. El tratamiento de la disección into types A and B. Group A includes the aórtica de aorta ascendente sigue siendo un dissections that involve the ascending aor- desafío terapéutico. El diagnóstico oportuno ta, which is why they are considered to pose tiene relación directa con la esperanza de higher risk because the dissection and false vida de quienes lo padecen, de ahí su impor- light that is generated can rapidly affect tancia diagnóstica y su manejo. the coronary ostium and compromise the blood flow to the myocardium, leading to a INTRODUCTION massive and fulminating infarction, hence the importance of timely diagnosis and appropri- Marfan syndrome is a rare connective tis- ate surgical treatment. sue disorder that equally affects men and In many cases, if the aortic root is dilated, women (autosomal dominant), with an and depending on the degree of the dilation, approximate incidence rate of 1 in 5 000 the apparatus of the aortic valve is affected, people. It is characterized by an alteration which implies a backward flow of blood to in the production of fibrillin due to a muta- the ventricles with the consequent decrease tion in the FBN1 gene of chromosome 15, in the volume of ventricular ejection. To com- which weakens the connective tissue of pensate this anomaly, the cavities of the heart the body, whether tendinous, ligamentous, increase their size, in other words, a cardiac cartilaginous, vascular or heart valves. (1). dilation occurs. It is worth noting that not all patients with The estimated mortality rate for type A aor- this syndrome develop the same symptoms tic dissection is directly related to the time of or severity (allelic heterogeneity) (2). Since evolution, being of 1% per hour within the first the aorta wall is weak, a dilatation of the 24 hours, 29% at 48 hours, 44% after a week, aorta occurs leading to an aortic aneurysm. and reaching 50% at two weeks. Therefore, In addition, if there is a rupture in the vascu- emergency surgery is the best option. lar wall, a double lumen may be formed, with Despite the advances for early diagnosis the consequent passage of blood, which is and the innovations in surgical management, called aortic dissection. type A aortic dissection of the ascending aor- Acute thoracic aortic dissection is the ta has a high morbidity and mortality both in result of a tear in the wall of the aorta that the short term and in the long term: at the allows blood flow between its layers separat- hospital level, it ranges between 15% and ing them, which leads to the appearance of a 35%, with a 5-year survival rate in 65-75% double light within the same vessel, causing of cases. the blood flow through a false light to exert an Type B dissections involve the aorta pos- occlusive effect on the light itself and condi- terior to the left subclavian artery, with no com- tion the flow to the vessels that derive directly promise of the ascending aorta. Usually, its from the aorta. The importance of early diag- management is not urgent, although it is equally ascending aortic disease in a patient with marfan syndrome important since relevant organs may also be af- revealed systolic and diastolic murmur and 101 fected, in which case other therapeutic options mitral systolic murmur. should be analyzed. Complementary diagnostic exams CASE PRESENTATION 1. Chest x-ray: cardiomegaly, mediastinal wid- 26-year-old male, mestizo, single patient ening at the expense of ascending aorta from Guayaquil (Ecuador), with a basic (Figure 1a). level of education, a history of Marfan syn- 2. Electrocardiogram: sinus tachycardia, left drome and hypertension in treatment, who ventricular hypertrophy with signs of dia- attended consultation reporting a clinical stolic overload. picture of 48 hours of evolution character- 3. Echocardiogram: significant aortic valve ized by intense lancinating retrosternal pain regurgitation with severe dilatation of the and medium effort dyspnea that evolved valve ring. to orthopnea. The vital signs on admission 4. Computed tomography angiogram of the obtained after physical examination were: chest: aortic root of 90.2 mm, ascending aorta BP: 120/50 mmHg, HR: 108/min, RR: 22/ of 80.8 mm, double lumen observed at aortic min, oxygen saturation: 95%, temperature: root level correlating with aortic dissection (inti- 35.4°C, and height: 180 cm. He presented mal flap) with visible leakage of contrast mate- with disproportionate upper limbs in relation rial towards false lumen. Normal mitral, tricus- to thoracoabdominal structure, pale skin, pid and pulmonary valves; insufficient tricuspid aranodactyly, perioral cyanosis, and piriform aortic valve and increased pulmonary systolic thorax with sternal depression. Auscultation pressure (60 mmHg) (Figures 1b and 2). Fig 1A. Posteroanterior chest radiograph. Grade 4 cardiomegaly and mediastinal widening at the expense of ascending aorta. Fig 1B. Computed tomography angiography: sagittal section. Aortic root of 90.2 mm, ascending aorta of 80.8 mm, insufficient tricuspid aortic valve and increased pulmonary systolic pressure (60 mmHg). Source: Own elaboration based on the data obtained in the study. Case reports Vol. 3 No. 2: 98-106 102 Fig 2A. 3D reconstruction of computed tomography angiography of the chest. Dilation of the ascending aorta. Aortic root 90.2 mm, anteroposterior diameter of ascending aorta of 80.8 mm.
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