Case reports 2017; 3(2)

https://doi.org/10.15446/cr.v3n2.61493 ASCENDING AORTIC DISEASE IN A PATIENT WITH

Palabras clave: Aneurisma de la ; Cirugía torácica; Aorta Torácica; Disección aórtica aguda, Marfan. Keywords: ; Thoracic ; Thoracic aorta; Acute , Marfan.

Edison Ricardo Espinoza Saquicela General Surgeon 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 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 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 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 . 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

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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. Fig 2B. Arrow. Intimal flap. Source: Own elaboration based on the data obtained in the study.

Evolution Surgical procedure

One of the most important aspects is the length Once the patient was under general anesthesia of hospital stay, since this is directly related to and strict asepsis, proximal and distal control of morbidity and mortality. In this case, approxi- the right axillary artery was performed by can- mately 48 hours passed between the comple- nulation for extracorporeal circulation (ECC), tion of the complementary examinations, the followed by medial stereotomy, exposing the confirmation of Stanford type A ascending aortic pericardial sac through an inverted T incision, dissection as definitive diagnosis, and the deci- which exposed the ascending aortic aneurysm sion to start surgical treatment through Bentall from the aortic annulus, with a diameter greater and De Bono surgery, which represented an in- than 100 mm that deformed the base of the crease of about 29% in the mortality rate. heart and extended to the distal third of the as- The clinical management of the patient cending aorta. Cardiomegaly IV/IV was found was holistic, and one of the parameters active- in both right and left cavities, along with global ly treated was blood pressure through carve- dilation of the ventricles and intraoperative pul- dilol 6.25 mg VOc/12h, which kept the values monary artery pressure over 60 mmHg accord- within normality ranges. ing to Swan-Ganz catheter measurements. ascending aortic disease in a patient with marfan syndrome

The extracorporeal circulation entrance tured with suture dehiscence, which caused an 103 was then isolated by aortic clamping and the acute intraoperative myocardial infarction. dissected aortic wall was opened longitudi- Upon removing ECC, acute right ven- nally, which allowed to identify false and true tricular distension and sustained ventricular lumen. Then, through a partial resection of the fibrillation were observed, which required de- dissection focus, the distal end of the aorta was fibrillation (20-30 joules) together with antiar- verified and the false lumen was sealed with rhythmic therapy. Finally, arrhythmia was con- BioGlue 1. Resection of the tricuspid aortic trolled. The patient presented three episodes valve was continued, isolating left and right cor- of ventricular fibrillation which responded to onary buttons and implanting a valved tube sj # electrical . 27. Once the normal function of the prosthetic ECC removal was attempted on three oc- discs was confirmed, the left and right coronary casions, but low expenditure was observed button reimplant was placed and its permea- despite maximum inotropic support, then the bility was checked. Immediately, distal anasto- patient suffered refractory ventricular fibrilla- mosis was performed from the valved tube to tion and later asystole despite an epicardial the distal ascending aorta. Finally, a prosthetic pacemaker and died. The aortic clamping neo-ostium venous bypass implant was placed time was 150min and ECC time, 305 min since the right coronary button was unstruc- (Figures 3, 4 and 5).

Fig 3. Surgery. Exposure by . Fig 4. Exposure of the aortic ring with appropriate fixation A. Pericardial sac. B. Aneurysmal ascending aorta. points for subsequent placement of prosthetic material. Source: Own elaboration based on the data obtained in the study. Source: Own elaboration based on the data obtained in the study. Case reports Vol. 3 No. 2: 98-106

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Fig 5A Exposure of the aortic ring with the appropriate fixation points after prosthesis placement. Fig 5b. Replacement of the aortic root using composite prosthesis and Bentall coronary reconstruction. a: extracorporeal circulation system. b: aortic ring with corresponding fixation points. c: prosthetic material. Source: Own elaboration based on the data obtained in the study.

DISCUSSION complications observed in the patients who suffer from this condition are closely related to The Marfan syndrome is an autosomal domi- the diameter of the aorta, its growth rate and nant pathology with a relatively low frequen- the time of evolution. In vessels with a diame- cy, which tends to cardiovascular complica- ter greater than 5 cm, the risk of rupture and tions in most cases. The evolution of Marfan dissection increases by up to 45% (4). The syndrome leads to an aneurysmal dilation of symptomatology is variable and depends on the aorta, which may be added to a rupture the type of aneurysm, as well as on its location of its wall with the subsequent development and relationship with neighboring structures. of aortic dissection. In this case, a type A dis- An aortic aneurysm can cause fatigue, hoarse section was diagnosed based on the Stan- or strained voice and pain in the left shoulder. ford classification, the most frequently used If it is accompanied by aortic dissection, it can nowadays, or DeBakey type II (3). cause intense lancinating pain in the anterior The ascending aortic aneurysms have a chest, which usually radiates towards the back relatively low prevalence, as well as an import- in the interscapular region. ant variability that can be accompanied by an Aortic dissection is characterized by the aortic dissection or rupture of the aorta, in- creation of a false lumen in the middle layer creasing its mortality rate to almost 100%. The of the aortic wall. It is classified according to ascending aortic disease in a patient with marfan syndrome

the presence and location of the first tears, as 60% to 75% of the patients who undergo a 105 well as the retrograde or anterograde exten- dissection of the ascending aorta (10). sion of the dissection (5). Due to its comorbidity rates and its degree If coronary vessels are compromised since of evolution, Bentall procedure is the most fa- birth, associated acute coronary syndrome vorable choice for this type of patients. In this symptoms are added, which constitutes an case, the procedure consisted in performing emergency and modifies both the manage- a prosthetic replacement that compensated ment and the necessary times. aortic valve deficiency as a result of the large Opting for surgical treatment depends dilatation of the aortic annulus and subse- on several factors and choice is based on the quent replacement of the damaged aortic wall. anatomical conditions of the aorta, the under- Finally, the aortic buttons were reimplanted to lying disease, the risk of anticoagulation, the the prosthesis. age of the patient, the presence of an active However, there are other surgical op- infection, among others. Several surgical tech- tions. For example, David’s technique, devel- niques have been developed that reflect the oped by the Canadian surgeon Tirone David evolution in the management of the ascending in 1992, achieves a greater stabilization of aortic aneurysms; each has its own advantag- all the components of the root of the aorta, es, limitations and risks. The replacement of which requires the proper function of the the aortic root and the ascending aorta with aortic valve (6). In this case, the patient had valved tubular grafts, known as the Bentall a large dilatation of the aortic annulus that procedure, along with annuloaortic ectasia is made this procedure difficult to use. the most appropriate choice of the treatment It is important to consider the need for for this condition. (6). developing new therapeutic options for this The literature reports that the Bentall pro- type of patients in order to improve their sur- cedure has a low morbidity and a mortality of vival rates and quality of life. 13%, being septic shock and ventricular fibril- lation the most common causes of death (7). CONCLUSION These figures vary considerably depending on the moment when surgery is performed: The case reported here demonstrates that if surgery is scheduled, mortality rates range the treatment of patients with Marfan syn- between 1.7% and 17.1%, but if surgery is drome should be done from a multidisci- the consequence of an emergency, the values plinary and joint approach, where timely diag- increase to between 23% and 50% (7). The nosis together with follow-up by specialized survival rate at 5 years ranges between 73 and services and a qualified team allow a timely 92%, while survival at 10 years is between 60 action and, thus, avoid that the patients with and 73% (8). However, surgical mortality can this condition look for care when it is already vary greatly depending on the hospital cen- at a late stage. ter, the experience of the medical team, the available resources and the heterogeneity of FUNDING the patients (9). It is worth noting that dissec- tion distal to the operated segment persists in None stated by the authors. Case reports Vol. 3 No. 2: 98-106

106 INFORMED CONSENT from the International Registry of Acute Aortic Dissection (IRAD). Circulation. 2007;116(11 The authors met the regulations on of ano- Suppl):I150-6. nymity of the case study. 6. David TE, Feindel CM. An aortic valve sparing operation for patients with aortic valve incompe- CONFLICT OF INTEREST tence and aneurysm of the ascending aorta. J Thorac Cardiovasc Surg. 1992;103(4):617-21; None stated by the authors. discussion 622. 7. Galicia-Tornell MM, Marín-Solís B, Fuen- REFERENCES tes-Orozco C, Martínez-Marínez M, Vi- llalpando-Mendoza E, Ramírez-Orozco F. 1. Kumar V, Cotran RS, Robbins S. Robbins: Procedimiento de Bentall en la enfermedad aneu- Patología Estructural y Funcional. 6ª ed. Madrid: rismática de la aorta ascendente: mortalidad hos- McGraw-Hill, Interamericana de España; 2000. pitalaria. Cir Ciruj. 2010;78:45-51 2. McKusick VA. Mendelian inheritance in man. 6ª 8. Martínez-Hernández H. Los aneurismas de ed. Baltimore: Johns Hopkins; 1983. la aorta torácica y su enfoque terapéutico. Arch 3. Nienaber C, Rehders TC, Ince H. Interventio- Cardiol Mex. 2006;76(suppl 2):S124-33. nal strategies for treatment of aortic dissection. J 9. Gutiérrez J, Camblor S, Llaneza C, Menén- Cardiovasc Surg. 2006;47(5):487-96. dez P, Menéndez H, Carreño M, et al. Histo- 4. Trainini JC. Consenso de patología de la aorta. ria natural de los aneurismas de la aorta torácica. Rev Argent Cardiol. 2004;72:387-400. Angiología 2006;58(suppl 1):S3-14. 5. Tsai T, Isselbacher EM, Trimarchi S, Bosso- 10. Szeto WY, Gleason TG. Operative manage- ne E, Pape L, Januzzi JL et al. Acute type B ment of ascending aortic dissections. Semin aortic dissection: does aortic arch involvement Thorac Cardiovasc Surg. 2005;17(3):247-55. affect management and outcomes?. Insights doi: http://doi.org/djvf37.