Abstract： Objective To evaluate surgical outcomes of patients with Marfan syndrome （MFS） complicated by type A aortic dissection （AAD） during follow-up. Methods We retrospectively reviewed clinical data of 44 patients with MFS complicated by AAD who were admitted to Wuhan Asia Heart Hospital from January 2006 to January 2012. There were 31 male patients and 13 female patients with their age of 12-54 （33.0±9.8） years. Twenty-three patients underwent Bentall procedure at different time after the onset of AAD， while the other 21 patients received conservative treatment in stead of surgery because of economical or other reasons. COX regression with time-varying covariates was performed to analyze related factors， using primary end point， primary end point＋secondary end point as the outcome variables respectively， to compare postoperative outcomes and quality of life between the surgical treatment patients and conservative treatment patients. Results Postoperatively 1 patient died of multiple organ failure， and the other 22 patients survived the surgery. All the 43 patients were followed up from 1 to 75 months. The 3-year survival rate of the 22 surgical treatment patients was 95.7%， and they all had a good quality of life during follow-up. The survival condition and quality of life of the 21 conservative treatment patients was poor， and 13 patients （61.9%） died with the 3-year survival rate of only 31.7%. The main causes of their death included acute cardiac tamponade， aortic dissection rupture， acute myocardial infarction andcardiogenic shock. COX regression with time-varying covariates showed that the treatment outcomes of the surgical treatment patients were statistically different from those of the conservative treatment patients after modifying the influence caused by different operating time （OR of T_COV_ =0.088， P=0.028） . The risk of death of surgical treatment was only 8.8% of that of conservative treatment. Conclusion The prognosis of patients with MFS complicated by AAD is very poor. Therefore， all these patient， both in acute stage and chronic stage， should undergo surgical treatment as early as possible. The short-term and follow-up outcomes of surgical treatment are satisfactory.
Abstract： Marfan syndrome （MFS） is a congenital and heritable autosomal dominant disorder of the connective tissue which is often passed down through families. Its clinical presentation typically involves the skeletal， cardiovascular and ocular systems with a high natural mortality. Aortic root aneurysm and consecutive acute aortic dissection represent the main cardiovascular manifestations and main causes of morbidity and mortality in MFS. At present， the predominant therapeutic method is surgery， but surgical outcomes are quite unsatisfactory. Recent studies demonstrate that losartan， a common antihypertensive agent， is useful to treat MFS， the mechanism of which may results from inhibiting overactivation of transforming growth factor β （TGF-β） signaling. This discovery will definitely promote the transition of traditional surgical treatment of MFS into pharmacotherapy. In this review， we focus on the molecular biological pathogenesis， traditional and new therapeutic strategies for MFS patients.
Objective To retrospectively reviewed our experience of the surgical and perioperative treatment of patients suffering from critical Marfan syndrome with severe left ventricular dysfunction and to evaluate its therapeutic effect and prognosis. Methods Between January 2012 and October 2016, 15 patients diagnosed with Marfan syndrome combined with severe left ventricular dysfunction (left ventricular ejection fraction≤40% or left ventricular end diastolic diameter≥75 mm) underwent operations for aortic root aneurysm in Zhujiang Hospital and Guangdong General Hospital. Among them, 11 were males and 4 were females with a mean age of 32.9±8.7 years ranging from 19 to 55 years. Five patients with aortic dissection underwent Bentall procedure and total arch reconstruction with stent graft implantation. Two patients underwent Bentall procedure and hemi-arch replacement, seven patients underwent Bentall procedure and one patient underwent Cabrol procedure. Concomitant procedures included mitral valve repair in 12 patients, mitral valve replacement in 3 patients and tricuspid valve repair in 12 patients. Results There were 11 patients (73.3%) receiving intra-aortic balloon pumping implantation. One (6.7%) in-hospital death occurred. The left ventricular end diastolic diameter decreased from 80.5±7.4 mm to 58.3±6.0 mm (P<0.05) and the left ventricular ejection fraction improved from 37.3%±5.2% to 46.3%±4.4% 3 months postoperatively (P<0.05). The left ventricular end diastolic diameter decreased from 80.5±7.4 mm to 53.7±3.6 mm (P<0.05) and the left ventricular ejection fraction improved from 37.3%±5.2% to 57.7%±4.2% after one year (P<0.05). No death and reoperation occurred in the follow-up. Conclusion Although the patients with Marfan syndrome and severe left ventricular dysfunction usually have a high surgical mortality, the key to satisfactory outcomes of severe Marfan syndrome is adequate preoperative preparation, complete correction of all vascular lesions during the operation, application of circulatory auxiliary device and perioperative strict and long-term ICU monitoring.
Objective To study the mid-term and long-term postoperative results of Bentall procedure in patients with Marfan syndrome. Methods From February 2009 to July 2016, ten adolescent patients (mean age of 12.30±2.31 years ranged 9-16 years, mean height of 172.50±12.55 mm, mean weight of 48.60±17.08 kg) underwent Bentall procedure in our hospital. All these teenage patients were with Marfan syndrome, 6 boys and 4 girls. Five of them underwent mitral valve replacement procedure at the same time while 2 of them with tricuspid valvuloplasty. Results No mortality was found in hospitalization. One patient suffered respiratory failure after surgery. No renal failure, mediastinal infection or re-operation caused by bleeding were observed. All were well followed up for 62 months. One died of malignant arrhythmia, the other were in good condition with the latest interview. Conclusion Teenage patients with Marfan syndrome who underwent Bentall procedure have favorable outcomes in mid-term and long-term follow-up, they probably will not suffer anti-coagulation complications and restriction of growth.
Aortic dissection during pregnancy is rare in clinics. Because the symptoms are lack of specificity, early diagnosis is difficult. However, the progression of aortic dissection is fast, therefore, the mortality of pregnant women and fetuses is high, and half of the death in pregnant women is due to aortic dissection. Although the development of medical condition is rapid, aortic dissection of pregnancy is still a great challenge for patients and clinicians, and is one of the most important diseases in obstetric medical disputes. In this paper, combined with the literatures published in recent years, we summarized the epidemiological characteristics and related treatment suggestions of the aortic dissection in pregnancy.
ObjectiveTo summarize the surgical treatment plan and experience of patients with Marfan syndrome complicated with Stanford type B aortic dissection, and to explore the treatment strategy selection.MethodsA retrospective analysis was conducted on 27 patients with Marfan syndrome complicated with thoracoabdominal aortic diseases who were treated in the department of cardiovascular surgery of our hospital from January 2013 to June 2019, including 13 males and 14 females, with an average age of 32.2±8.6 years. According to the patients' conditions, 19 of them received single pump-assisted blood transfusion combined with total thoracoabdominal aortic replacement (TAAAR), and 8 received thoracic endovascular aortic repair (TEVAR) in critically ill and pregnant patients. The patients were followed up in the outpatient clinic, and the thoracoabdominal aortic CT angiography was reexamined at 3 months, 6 months, 12 months and annually. The outcome of surgery, the incidence of intermediate cardiovascular adverse events, defined as the reoperation due to aortic or cardiac diseases, and intermediate survival rate were studied.ResultsAll 27 patients successfully completed the operation, the operation time was 60-852 (395.10±222.60) min, the spinal cord ischemia time was 14-26 (19.33±3.44) min, and the abdominal viscera ischemia time was 16-23 (19.83±1.94) min. Eight patients of TEVAR were all operated in acute phase and 19 patients of TAAAR in chronic phase. Two early postoperative deaths occurred in TEVAR patients. One died of puerperal infection and multiple organ dysfunction after cesarean section at the same time. After TEVAR, type A dissection re-ocurred in one patient. The family member gave up the treatment, and the patient died of the dissection ruptured after cesarean section. During the average follow-up of 47.6±36.7 months, 1 patient died of cerebrovascular accident and 9 patients were reoperated for adverse cardiovascular events, including 4 in TEVAR and 5 in TAAAR.ConclusionTAAAR is the first choice for the treatment of Marfan syndrome combined with thoracoabdominal aortic diseases. TEVAR is easy to operate, with a low incidence of early mortality and complications, but has the risk of internal leakage and avulsion, and a high reoperation rate in the middle stage, so it can be used for high-risk elderly patients not suitable for open surgery, or as a bridge therapy for emergency patients before open surgery.
ObjectiveReporting a case of hybrid procedure of extensive thoracoabdominal aortic aneurysm (TAAA) with type B dissection due to Marfan syndrome (MFS) using a prosthetic graft as the distal landing zone for stent-graft.MethodsRetrospectively summarize in-hospital profiles of a patient for who was diagnosed as MFS complicated with TAAA and type B dissection and admmited to Vascular Surgery Department of West China Hospital in May 2018. A GORE-TEX 18 mm×9 mm Y-shaped graft was sewn side-to-end to the bifurcation of left common iliac artery as the inflow site, and a self-made penta-limb graft was sewn side-to-end to the bifurcation of the 18 mm graft. The visceral and bilateral iliac arteries were reconstructed subsequently. Then, the release of the stent-graft was designed from distal to proximal. The distal part of the stent-graft was anchored into the main body of the 18 mm Y-shaped graft.ResultsThe patient underwent the operation successfully with a duaration of 6 h, blood loss of about 800 mL. No serious postoperative complications occurred. Computed tomography angiography at 2-year follow-up showed that the bypass grafts were patent without endoleak, stent migration, stent infolding or infections of the vessel graft and endograft.ConclusionThis modified management of the landing zone could be a proper choice for this kind of rare case as extensive aneurysm or dissection involved in patients with MFS.
Pregnancy complicated by aortic root aneurysm in patients with Marfan syndrome is one of the main causes of termination of pregnancy or even death in pregnant women. A very small number of pregnant women require cardiac surgery to preserve pregnancy under extracorporeal circulation, and all surgeries use aortic root replacement. We reported a 30-year-old patient with severe aortic regurgitation combined with giant aortic root aneurysm and Marfan syndrome in mid-pregnancy. Valve-sparing root replacement using reimplantation technology was performed via a multidisciplinary cooperation model. This not only achieved the patient’s desire to continue pregnancy but also avoided the anticoagulation and bleeding complications brought by mechanical valve replacement, reduced pregnancy risks and improved long-term quality of life. Postoperative echocardiography showed trace aortic regurgitation, aortic valve coaptation height of 0.6 cm, effective height of 1.1 cm, maximum aortic flow velocity of 1.4 m/s, mean transvalvular pressure gradient of 4.4 mm Hg, and satisfactory clinical results.
Objective To evaluate the incidence and characteristics of spontaneous pneumothorax in patients with Marfan syndrome (MFS), and to analyze its related factors. Methods The medical record of patients with MFS who were hospitalized in the First Affiliated Hospital of University of Science and Technology of China from March 1, 2017 to December 31, 2022 were retrospectively collected, to analyze the incidence of pneumothorax and related risk factors. Results A total of 53 patients (including 29 males, 55%) were included, with a median age of 32 years (ranging from 13 to 65 years). All patients denied family history of pneumothorax. Four cases (8%) had one episode of spontaneous pneumothorax, with pulmonary bullae involved the ipsilateral apex. Among them, 3 cases (75%) had single pulmonary bulla and thoracic deformity. Of the 49 patients without previous pneumothorax history, 9 (18%) had pulmonary bullae, of which 6 (67%) were located at the apex of the lung, and the remaining 3 (33%) were in the middle and lower lobes of the lung; In addition, 6 cases (12%) were coexisted with thoracic deformity. The incidence of pneumothorax in patients with pulmonary bullae in MFS was significantly higher than those without pulmonary bullae (31% vs. 0%, P=0.002), and the incidence of pneumothorax in patients with thoracic deformities was significantly higher than those with normal thorax (33% vs. 2%, P=0.013). Of the 4 patients with pneumothorax, 2 underwent bullectomy, 1 underwent thoracic drainage, and the other underwent thoracic puncture and aspiration procedures, respectively. No recurrence of pneumothorax was observed during the follow-up period. Sixteen cases of MFS with spontaneous pneumothorax (11 males, 69%) were reported in Chinese literature, with a median age of 17 years (ranging from 13 to 28 years). Among them, 3 cases (19%) had a family history of pneumothorax, and 14 cases (88%) had thoracic deformities. Bullae was found in all 5 patients with pneumothorax, 4 of them with chest CT images involved the ipsilateral upper lobe. Forty-four percents of 16 patients had pneumothorax recurrence. Conclusions The incidence of MFS complicated with spontaneous pneumothorax is significantly higher. However, most of them have no family history of pneumothorax. The incidence of pneumothorax with MFS is associated with pulmonary bullae (especially the apex of lung) and thoracic deformity. Timely surgical intervention should be carried out when pneumothorax happened.