Clinical manifestations and genetic analysis of 4 patients with variants of FBN1 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for four patients suspected for Marfan syndrome (MFS).@*METHODS@#Four male patients with suspected MFS and their family members who were treated at West China Second Hospital of Sichuan University from September 12, 2019 to March 27, 2021 were selected as the study subjects. Peripheral venous blood samples were collected from the patients and their parents or other pedigree members for the extraction of genomic DNA. Whole exome sequencing was carried out, and candidate variants were validated by Sanger sequencing. The pathogenicity of the variants was determined based on the guidelines from the American College of Medical Genetics and Genomics (ACMG).@*RESULTS@#Genetic testing revealed that all four patients have harbored variants of the FBN1 gene, including c.430_433del (p.His144fs) deletional variant in exon 5, c.493C>T (p.Arg165*) nonsense variant in exon 6, c.5304_5306del (p.Asp1768del) deletional variant in exon 44 and c.5165C>G (p.Ser1722Cys) missense variant in exon 42. According to the ACMG guidelines, the c.430_433del and c.493C>T were classified as pathogenic variants (PVS1+PM2_Supporting+PP4; PVS1+PS1+PS2+PM2_Supporting+PP4). c.5304_5306del and c.5165C>G were classified as likely pathogenic variants (PS2+PM2_Supporting+PM4+PP4; PS2_Moderate+PS1+PM1+PM2_Supporting).@*CONCLUSION@#The c.430_433del and c.5304_5306del variants of the FBN1 gene identified in this study were unreported previously. Above results have enriched the variation spectrum of the FBN1 gene and provided a basis for genetic counseling and prenatal diagnosis of patients with MFS and acromicric dysplasia.

Analysis of a child with Marfan syndrome due to a novel variant of FBN1 gene / 中华医学遗传学杂志

OBJECTIVE@#To carry out genetic testing for a child with Marfan syndrome (MFS) and explore its genotype-phenotype correlation.@*METHODS@#Peripheral blood samples of the child and his parents were collected for the extraction of genomic DNA and subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing. Functional impact of the variant was predicted by using bioinformatic software.@*RESULTS@#The child, a 13-year-old male, has featured Marfanoid habitus, with arm span exceeding his height, tapering fingers and toes, pectus excavatum and scoliosis, but absence of typical cardiovascular system diseases such as aortic dilation, thoracic-abdominal aortic aneurysm, mitral valve prolapse, and lens dislocation. The child has harbored a novel splice site variant c.7383_7413del (p. N2461Kfs*211) of the FBN1 gene, which was not found in his parents and younger brother. The variant was unreported previously.@*CONCLUSION@#The novel variant of p. N2461Kfs*211 of the FBN1 gene probably underlay the MFS in this child. Above finding has enriched the genotypic and phenotypic spectrum of MFS.

Latest advances in the diagnosis and treatment of Marfan syndrome / 中国当代儿科杂志

Marfan syndrome (MFS) is a multisystem connective tissue disease with autosomal dominant inheritance. It is mainly caused by FBN1 gene mutation and often has different clinical manifestations. Neonatal MFS is especially rare with severe conditions and a poor prognosis. At present, there is still no radical treatment method for MFS, but early identification, early diagnosis, and early treatment can effectively prolong the life span of patients. This article reviews the latest advances in the diagnosis and treatment of MFS.

Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation

Abstract A 32-month-old girl with patent ductus arteriosus, false tendon of left ventricle, mild pulmonary hypertension, and chronic cardiac insufficiency (cardiac function level I-II) was misdiagnosed with Marfan Syndrome and there was no improvement in her physical growth after operation for this disease. The preterm baby was finally diagnosed with Myhre Syndrome by clinical phenotypes and mutation of SMAD4 gene.

Síndrome de Marfán / Marfan syndrome

El síndrome de Marfán constituye una enfermedad infrecuente de herencia autosómica dominante, con una incidencia de 2-3 casos por cada 10,000 personas. Es caracterizada por manifestaciones musculo-esqueléticas, cardiovasculares oftalmológicas y pulmonares. Se presentan dos pacientes con lazos familiares, diagnosticados en consulta especializada, con alteraciones somatoesqueléticas características, paladar ojival, signos odontológicos y complicaciones valvulares cardiacas. Se revisa la literatura actualizada y se indican pautas terapéuticas preventivas y de rehabilitación. Es una entidad clínica rara, de pronóstico incierto. Su diagnóstico oportuno prevé la detección de complicaciones que pueden ser invalidantes, a la vez que debe instaurarse un tratamiento precoz que incluya medidas de rehabilitación y posibilite una mejor calidad de vida del paciente para alcanzar una expectativa de vida satisfactoria(AU)

Marfan syndrome is a rare disease of autosomal dominant inheritance, with an incidence of 2-3 cases per 10,000 people. It is characterized by musculoskeletal, cardiovascular, ophthalmological and pulmonary manifestations. We report two patients with family ties, diagnosed in a specialized consultation, with characteristic somatoeskeletal alterations, high palate, dental signs and cardiac valve complications. The updated literature was reviewed and preventive and rehabilitative therapeutic guidelines were indicated. It is a rare clinical entity with uncertain prognosis. Its timely diagnosis foresees the detection of complications that can be invalidating, at the same time that an early treatment must be established that includes rehabilitation measures and allows better quality of life for the patient to achieve satisfactory life expectancy(AU)

A de novo mutation leading to Marfan syndrome in a case / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child featuring unexplained rapid growth and heart malformation.@*METHODS@#Whole exome sequencing (WES)was carried out for the patient. Suspected variant was verified by Sanger sequencing and subjected to bioinformatic analysis.@*RESULTS@#The child was found to harbor a novel de novo c.5846_5848delATA (p. N1949del) variant in exon 48 of the FBN1 gene, which was predicted to be pathogenic by Mutation Taster. The patient was ultimately diagnosed with Marfan syndrome.@*CONCLUSION@#Above finding has enriched the spectrum of genetic variants associated with Marfan syndrome. WES has provided a powerful tool for the diagnosis of rare diseases.

Síndrome de Marfán en la edad adulta / Marfan's Syndrome

El síndrome de Marfán es una enfermedad que integra el grupo de las llamadas colagenopatías no autoinmunes. Etiológicamente consiste en la mutación del gen que codifica la fibrilina 1, que se encarga junto con otras proteínas como la elastina de formar los microfilamentos de sostén de la matriz celular. Este defecto genera diversas manifestaciones clínicas por trastornos en diferentes sistemas (esquelético, cardiovascular, gastrointestinal, ocular). Se presenta un paciente de 43 años de edad, de raza negra, que llegó a la edad adulta sin un diagnóstico de la enfermedad. Incidentalmente sospechamos el diagnóstico al tratar una neumonía adquirida en la comunidad. Se trató su cuadro de neumonía con piperacilina y tazobactam por 7 días. Se recomendó la valoración por parte de cirugía cardiovascular por hallazgos de aneurisma de la aorta ascendente, pero el paciente decidió no continuar con los estudios de su enfermedad. Se aconsejó cambios en el estilo de vida y ejercicios físicos y se diagnosticó alta probabilidad de muerte por el problema vascular descrito(AU)

Marfan's syndrome is a disease that is included in the group of the no autoimmune collagen diseases, the ca use of this syndrome is a mutation in the gen FBN1 that translate the protein fibrillin 1, that is fundamental besides other proteins like elastin to form a part of the extracellular matrix. This defect generates multiple clinical manifestations due to defects in different systems (skeletal, cardiac, big vessels, gastrointestinal, ocular). The reported case is of a patient who reached adulthood without a diagnosis of the diseases, which we incidentally suspect in the context of community acquired pneumonia(AU)

Chylous ascites developing after open thoracoabdominal aortic aneurysm repair in a patient with marfan syndrome

Abstract Chylous ascites is the pathologic accumulation of chylous fluid in the peritoneal cavity, caused by lymphomas, metastatic malignancies, and abdominal surgeries, rarely due to surgical trauma of the cisterna chyli or its major branches. A 24-year-old man with history of Marfan syndrome presented to our hospital with abdominal distention, abdominal pain, fluid in the incision region, and weakness. He had underwent an elective open aneurysm repair surgery nine days before for thoracoabdominal aortic aneurysm. Computed tomography revealed massive fluid collection in the abdominal cavity, which was drained surgically. He was diagnosed with chylous ascites and was discharged after conservative treatment.

Ectasia dural e hipotensión endocraneal en síndrome de Marfán / Dural ectasia and intracranial hypotension in Marfan syndrome

INTRODUCCIÓN: El síndrome de Marfán es un trastorno multisistémico del tejido conectivo de herencia autosómica dominante, de expresión variable. La ectasia dural es un compromiso frecuente, pero poco conocido, que puede asociarse a síndrome de hipotensión endocraneana (SHE). OBJETIVO: Pre sentar un caso de cefalea invalidante secundario a SHE, para advertir de esta rara complicación, que debe tenerse presente en niños portadores de conectivopatías, en especial síndrome de Marfán. CASO CLÍNICO: Adolescente femenina de 13 años, portadora de sindrome de Marfán, de diagnóstico clínico según criterios de Ghent 2010, que consultó por cefalea ortostatica invalidante de 6 meses de evolución. La Resonancia Magnetica (RM) de cerebro mostró múltiples signos de hipotensión endocraneana, mientras que la RM de columna total mostró una ectasia dural que determinó la dilatación del saco tecal y remodelación posterior de los cuerpos vertebrales, especialmente a nivel del sacro. Se realizó tratamiento con parche sanguíneo autólogo epidural con buena respuesta clínica. CONCLUSIONES: La ectasia dural, frecuente en el sindrome de Marfán, es una causa predisponente a fuga de líquido cefaloraquideo (LCR), que podría causar cefalea ortostática segundaria al SHE.

INTRODUCTION: Marfan syndrome is an autosomal dominant, multi-systemic connective tissue di sorder of different presentations. Dural ectasia is a common, but little known complication that can be associated with intracranial hypotension syndrome (IHS). OBJECTIVE: To present a case of severe headache secondary to IHS in order to warn about this rare complication, which must be considered in children carriers of connective tissue diseases, especially Marfan syndrome. CLINICAL CASE: 13-year- old female carrier of Marfan syndrome, clinically diagnosed according to the 2010 Ghent criteria, who consulted due to a 6-months history of severe orthostatic headache. Head magnetic resonance imaging (MRI) showed multiple signs of intracranial hypotension, while whole-spine MRI showed dural ectasia that caused the thecal sac dilation and subsequent remodeling of vertebral bodies, es pecially the sacral ones. Treatment with an autologous epidural blood patch was administered with good clinical response. CONCLUSIONS: Dural ectasia, frequent in Marfan syndrome, is a predisposing cause of cerebrospinal fluid (CSF) leakage, which could cause orthostatic headache secondary to IHS.

Thoracic aortic aneurysm surgery in marfan patients: a perspective from the uk

Abstract Objective: Cardiovascular complications in Marfan patients include progressive aortic root dilation which can precipitate acute aortic dissection, ruptured aorta, severe aortic regurgitation, or all the aforementioned. Such complications can be fatal and the cause of death prior to any surgical intervention. We set out to identify the Marfan population in England and Wales and present their surgical outcomes. Methods: A total of 306 patients with Marfan syndrome who underwent aortic root surgery were identified between April 2007 and March 2013 from NICOR database. We examined the perioperative characteristics of such cohort along with in-hospital outcomes and survival. Results: Root and ascending segment procedures on Marfan patients performed in 3.3% of the total cohort by NICOR root surgery patients. The median reported age was 40 years (IQR = 29-49 years) and 100 (32.7%) were female. Of the patients analysed, 17.3% were treated non-electively and 68.6% of them received concomitant valve procedure. The in-hospital mortality was 2.0%. Reoperation for bleeding was required in 8.2% of patients and 1.3% of them suffered a cerebrovascular accident (CVA). Mortality at 1 year was reported as 5.5%. Conclusion: The outcomes of surgery on the root and ascending aorta in Marfan patients in the United Kingdom are satisfactory; however, the overall complexities of this patient population are not well understood and would benefit from further investigations.

Compromiso cardiovascular en el síndrome de Marfan: reporte de caso / Cardiovascular compromise in Marfan syndrome: case report

El Síndrome de Marfan es una enfermedad del tejido conectivo causada por mutaciones en el gen FBN1, mismo que codifica la fibrilina-1, glucoproteína fundamental del componente de las microfibrillas. Entre las manifestaciones clínicas, la afectación cardiovascular merece una consideración especial, debido a su pronóstico. Se presenta un varón de 40 años quien acude al Instituto Nacional del Tórax por un cuadro clínico de 2 años de evolución caracterizado por clínica de insuficiencia cardiaca descompensada, insuficiencia aortica y criterios colagenopatía subyacente, ante lo cual tras los estudios de gabinete y el uso de los criterios pertinentes (Ghent modificados) se llega al diagnóstico de Síndrome de Marfan. La supervivencia de estos pacientes depende del diagnóstico temprano evitando las complicaciones que en su mayoría son mortales, el uso de los scores es de ayuda y la intervención oportuna lleva a un mejor pronóstico de vida y evita los procedimientos invasivos y por ende demás complicaciones

Marfan syndrome is a connective tissue disease caused by mutations in the FBN1 gene, which encodes fibrillin-1, a fundamental glycoprotein of the microfibril component. Among the clinical manifestations, cardiovascular involvement deserves special consideration, due to its prognosis. We present a 40-year-old man who came to the National Thorax Institute for a clinical picture of 2 years of evolution characterized by symptoms of decompensated heart failure, aortic insufficiency and underlying collagenous criteria, before which, after cabinet studies and the use of the relevant criteria (modified Ghent) leads to the diagnosis of Marfan Syndrome. The survival of these patients depends on early diagnosis, avoiding complications that are mostly fatal, the use of scores is helpful and timely intervention leads to a better prognosis for life and avoids invasive procedures and therefore other complications.

Rotura de aneurisma de artéria poplítea em paciente clinicamente diagnosticado com síndrome de Marfan / Ruptured popliteal artery aneurysm in a patient with a clinical diagnosis of Marfan syndrome

Resumo A artéria poplítea é o principal local para a ocorrência de aneurismas periféricos. Suas formas de apresentação agudas são potencialmente ameaçadoras à viabilidade do membro e à vida, dentre as quais destacamos a sua rotura. Apesar de ser um evento raro, sua rotura demanda rápida proposta de intervenção para satisfatório desfecho terapêutico. O tratamento padrão-ouro é o cirúrgico convencional e se dá pela interposição de veia safena magna. Trabalhos feitos nas últimas décadas vêm encontrando associações entre a síndrome de Marfan e aneurismas periféricos. Este relato apresenta um caso de um aneurisma de artéria poplítea esquerda roto tratado com sucesso em um paciente de 82 anos diagnosticado clinicamente como portador de síndrome de Marfan previamente desconhecida.

Abstract The popliteal artery is the main site of occurrence of peripheral aneurysms. Acute presentations constitute a potential threat to limb viability and to life, especially in the event of rupture. Rupture is a rare event, but one that demands an immediate intervention decision to achieve a satisfactory treatment outcome. The gold standard treatment is conventional surgery, effecting repair by interposition of a great saphenous vein graft. Studies conducted in recent decades have found associations between Marfan Syndrome and peripheral aneurysms. This report presents a case of a ruptured left popliteal artery aneurysm successfully treated in an 82-year-old patient clinically diagnosed with previously unknown Marfan syndrome.

Facoanafilaxia por cristalino mergulhado na Síndrome de Marfan / Phacoanaphylactic by dislocation of the lens in the Marfan Syndrome

Resumo A síndrome de Marfan é uma doença de herança autossômica dominante e que afeta o tecido conjuntivo com manifestações fenotípicas que envolvem os sistemas esquelético, cardiovascular e ocular. As principais manifestações oculares são a subluxação do cristalino, a miopia e o descolamento da retina. O objetivo deste artigo foi relatar a conduta clínico-cirúrgica de um paciente portador da síndrome de Marfan com cristalino luxado para a cavidade vítrea e que evoluiu com severa reação facoanafilática caracterizada por um glaucoma secundário severo e descompensação corneana.

Abstract Marfan syndrome is an autosomal dominant inheritance disease that affects connective tissue with phenotypic manifestations involving the skeletal, cardiovascular and ocular systems. The main ocular manifestations are the subluxation of the lens, myopia and retinal detachment. The aim of this article was to report the clinical and surgical management of a patient with Marfan syndrome with luxated lens for the vitreous cavity and who developed a severe phacoanaphylactic reaction characterized by severe secondary glaucoma and corneal decompensation.

Tratamiento y resultados quirúrgicos en pacientes operados de aneurismas de aorta ascendente / Surgical procedure and outcomes in patients undergoing surgical treatment for ascending aortic aneurysms

RESUMEN Introducción: Los aneurismas de aorta ascendente son lesiones que deben tratarse quirúrgicamente debido a sus complicaciones potencialmente mortales, como la ruptura y la disección. Objetivos: Revisar los resultados a corto y mediano plazo del tratamiento quirúrgico en pacientes con aneurisma de aorta ascendente. Método: Se revisaron retrospectivamente las historias clínicas de 78 pacientes que recibieron tratamiento quirúrgico debido a un aneurisma de aorta ascendente, entre agosto de 2006 y julio de 2018, en el hospital Erzurum Regional Training and Research Hospital. Resultados: La edad promedio de los pacientes fue de 51,7 ± 9,8 (rango 24-77 años). Hubo 54 (69,2%) hombres y 24 (30,8%) mujeres. Cincuenta y ocho pacientes (74,3%) tenían síndrome de Marfan. También se encontraron enfermedad coronaria (15,4%), estenosis mitral (3,8%), insuficiencia (11,5%), estenosis (8,9%) y coartación aórticas (2,6%). Se realizó tratamiento quirúrgico de emergencia en 41 pacientes (52,5%). Se reemplazó la aorta ascendente en 55 pacientes (70,5%). Se empleó la técnica de Bentall (17,9%) y sustitución valvular aórtica más reemplazo de aorta ascendente con injerto (11,5%). En 14 pacientes se utilizó paro anóxico (parada circulatoria total). La mortalidad operatoria fue de 3,8% (3 pacientes) con la técnica de Bentall y la mortalidad postoperatoria temprana fue de 1,3% (1 paciente con coartación aórtica). Conclusiones: Los pacientes con aneurisma de aorta ascendente deben tener un estrecho seguimiento para definir su momento quirúrgico, debido al riesgo de disección y rotura. Aunque se pueden aplicar varias técnicas quirúrgicas de acuerdo con el estado de la válvula aórtica, especialmente en pacientes con síndrome de Marfan, el procedimiento quirúrgico preferido debería ser el reemplazo de la raíz aórtica con injerto compuesto, con el uso de la técnica de Bentall modificada, con reimplantación de los ostium de las arterias coronarias en el injerto.

ABSTRACT Introduction: Ascending aortic aneurysms are lesions that should be surgically handled because of their life-threatening complications like rupture and dissection. Objectives: To examine the early and midterm outcomes of surgical treatment in patients with ascending aortic aneurysm. Method: We retrospectively examined the records of 78 patients who underwent surgical treatment due to ascending aortic aneurysm between August 2006 and July 2018 at Erzurum Regional Training and Research Hospital. Results: The patients' average age was 51.7 ± 9.8 (ranged 24-77 years). There were 54 (69.2%) men and 24 (30.8%) women. Fifty-eight (74.3%) patients had Marfan's Syndrome. They also presented coronary artery disease (15.4%), mitral stenosis (3.8%), aortic regurgitation (11.5%), aortic stenosis (8.9%), and aortic coarctation (2.6%). The emergency surgical treatment was required in 41 (52.5 %) patients. Only 55 (70.5 %) patients had performed ascending aortic replacement. Bentall procedure (17.9%) and aortic valve replacement + ascending aortic graft replacement (11.5%) were performed. In 14 patients totally circulatory arrest was used. The operative mortality occurred in 3 (3.8%) patients with Bentall procedure and the early postoperative mortality occurred in 1 (1.3%) patient with aortic coarctation. Conclusions: Patients with ascending aortic aneurysms should be closely monitored for the timing of surgery due to the risk of dissection and rupture. Although various surgical techniques can be applied according to the aortic valve status, especially in patients with Marfan's Syndrome, root replacement with composite graft, and Bentall modifications and button anastomosis of coronary arteries in composite graft applications should be the preferred surgical procedure.

Bilateral clear lens extraction and intraocular lens implantation in a child with microspherophakia and Marfan syndrome / Extração bilateral de cristalino transparente e implante de lente intraocular em criança com microesferofacia e síndrome de Marfan

ABSTRACT We report the case of a 4-year-old boy with Marfan syndrome whose parents reported he had had low visual acuity since birth. On examination, there was microspherophakia and a small subluxation of the lens. The objective refraction was -23.75 - 2.75 x 70 in the right eye and -25.50 -3.50 x 90 in the left eye. Since the microspherophakia and the high myopia severely affected the boy's quality of life, clear lens extraction, anterior vitrectomy, posterior surgical capsulotomy via the pars plana, and intraocular lens implantation were performed. Two years postoperatively, the patient had centered intraocular lenses and a corrected visual acuity of 20/30 in both eyes. The child was satisfied with his vision and was able to study and perform daily activities without visual limitations.

RESUMO Reportamos o caso de um menino de 4 anos de idade com Síndrome de Marfan, cujos pais referiam que o mesmo apresentava baixa acuidade visual desde o nascimento. Ao exame oftalmológico, observou-se microesferofacia e discreta subluxação do cristalino bilateralmente. A refração estática era -23.75 - 2.75 x 70 no olho direito e -25.50 -3.50 x 90 no olho es querdo. Como a microesferofacia e a alta miopia traziam sérios prejuízos à qualidade de vida do paciente, foi submetido à facoemulsificação de cristalino transparente, vitrectomia anterior, capsulotomia posterior via pars plana e implante de lente intrao cular. Em seguimento pós-operatório de dois anos, mantinha lentes intraoculares centradas, eixo visual livre, acuidade visual corrigida de 20/30 em ambos os olhos. Paciente satisfeito com a visão podendo estudar e exercer todas as atividades do dia a dia sem limitações visuais.

Analysis of FBN1 gene mutations in two pedigrees affected with Marfan syndrome / 中华医学遗传学杂志

OBJECTIVE@#To detect mutations of fibrillin-1 (FBN1) gene in two pedigrees affected with Marfan syndrome (MFS).@*WETHODS@#Peripheral blood samples were collected from MFS patients and their healthy family members for extracting genomic DNA. All of the 65 exons of the FBN1 gene were analyzed by next-generation sequencing. PolyPhen-2 and SIFT was used to predict structural and functional changes in FBN1 protein.@*RESULTS@#Patients from both pedigrees presented ocular and skeletal manifestations suggestive of MFS. Two novel heterozygous mutations of the FBN1 gene, including c.1879C>T (p.R627C) in exon 16 and c.2584T>C (p.C862R) in exon 22, were identified. The same mutations were not found among unaffected members. By bioinformatic analysis, the mutations may affect the structure and function of the FBN1 protein.@*CONCLUSION@#The c.1879C>T and c.2584T>C mutations of the FBN1 gene probably account for the disease in the two pedigrees, respectively. Identification of the c.2584T>C has enriched the spectrum of FBN1 gene mutations.

Identification of a novel FBN1 variant in a pedigree affected with Marfan syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a pedigree affected with Marfan syndrome (MFS).@*METHODS@#Clinical data of the patients was collected. With genomic DNA extracted from peripheral blood samples, potential mutation was detected by targeted exome sequencing. Candidate variants were validated by Sanger sequencing and bioinformatic analysis.@*RESULTS@#Targeted exome sequencing and Sanger sequencing revealed a missense c.649T to C(p.Trp217Arg) variant in the exon 7 of FBN1 gene, which was unreported previously. Bioinformatics analysis suggested that the variant can cause amino acid replacement and affect the structure and function of fibrillin-1.@*CONCLUSION@#A novel missense variant of the FBN1 gene was identified, which probably underlies the autosomal dominant MFS in this pedigree.

Early and Midterm Results of Thoracoabdominal Aortic Aneurysm Repair in Patients with Marfan Syndrome / 中国医学科学院学报

Objective To evaluate the early and midterm results of surgical repair of thoracoabdominal aortic aneurysm(TAAA)in patients with Marfan syndrome(MFS). Methods The clinical data of patients with MFS undergoing TAAA repair in Fuwai Hospital between January 2009 and December 2017 were retrospectively analyzed.These patients were divided into two groups:MFS group(=58)and non-MFS group(=98).The baseline data,early postoperative results,and midterm follow-up outcomes were compared between these two groups. Results MFS patients were significantly younger(32 years old 45 years old,=9.603,=0.000)and more frequently had a history of aortic aneurysm or dissection(19% 0,=19.996,=0.000)than non-MFS patients.However,the proportions of males and smokers were significantly lower when compared with non-MFS patients(55.2% 80.6%,=11.489,=0.001;13.8% 46.9%,=17.686,=0.001).There was no significant difference in proportion of emergency operation,prophylactic cerebrospinal fluid drainage,operation time,intra-operative circulation management,and intra-operative blood transfusion(all >0.05).The 30-day mortality rate was significantly lower in MFS group than in non-MFS group(0 9.2%, [Formula: see text]=5.034,=0.025). Conclusions For patients with MFS,TAAA repair provides lower 30-day mortality and comparative middle-term survival.However,the re-intervention rate is higher among MFS patients,highlighting the importance of close follow-up.