Modified Bentall procedure with mitral valve replacement in a patient with Marfan syndrome: a case report

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder characterized by fibrillin-1 protein abnormalities, predisposing individuals to cardiovascular complications such as aortic root dilation and mitral valve prolapse (MVP). Management often requires surgical intervention, with the modified Bentall procedure being a standard approach for aortic root replacement. However, managing concomitant mitral valve pathology poses additional challenges due to the complex anatomical relationship between the two valves and the prolonged nature of the procedure. We present a case report of a 35-year-old male with Marfan syndrome who underwent a successful simultaneous modified Bentall procedure and mitral valve replacement for concurrent aortic root aneurysm and mitral valve prolapse. Surgical interventions involved meticulous attention to detail to mitigate risks associated with malpositioned coronary ostial sutures, debridement of the severely calcified mitral valve, and achieving hemostasis. Following surgery, the patient exhibited favorable postoperative outcomes, with evidence of optimal valve function and improved systolic and diastolic parameters, indicative of a successful recovery.

A Case Report of Marfan Syndrome with Pituitary Tumor Which Could be Misdiagnosed as Gigantism / 罕见病研究

Marfan syndrome (MFS) is an autosomal dominant disorder that is prone to fibrodysplasia, lens dislocation and rapid height growth, which needs to be distinguished from gigantism. This article reports a 14-year-old patient with MFS who had a typical binocular lens subluxation in both eyes, with visual impairment and rapid height growth. MRI with contrast to the pituitary suggested a pituitary microadenoma, but growth hormone and insulin-like growth factor 1 were in the normal range, thus excluding gigantism or acromegaly. Non-functional pituitary adenoma was considered. MFS patients need long-term follow-up and multidisciplinary collaboration, and attention should be paid to cardiovascular system monitoring and genetic testing, which can be helpful for the diagnosis and treatment of patients and risk prevention and control.

Study on the genotype and clinical phenotype of a family with isolated ectopia lentis / 安徽医科大学学报

Objective @#To identify possible associated genetic variants and characterise the clinical presentation of isolated ectopia lentis (IEL) .@*Methods @#Forty - eight members with 5 generations of an IEL family were enrolled in this study. Peripheral blood samples of all members were collected , and clinical manifestations were observed through physical examination and routine ophthalmological examination. Whole⁃exome sequencing (WES) was performed for two patients to identify disease⁃causing variants. The target variants were verified by Sanger sequencing in family members and 200 normal controls. Then , candidate variants were verified using Sanger sequencing in family members and 200 healthy controls. SIFT , PolyPhen and MutationTester were used to predict the protein function. @*Results @#A total of 13 IEL patients in this family which inherited in an autosomal dominant pattern. The mean age at disease onset was 51. 5 years. The main clinical phenotype of this ICE was characterised by ectopia lentis which anterior inclinated to the anterior chamber. As the anterior chamber became shallow , and the angle of the chamber became narrow , and eventually resulted in the secondary glaucoma. A heterozygous missense variantin the fibrillin gene⁃1 (FBN1) gene (c. 3463G > A) was identified by WES , which was present in all patients but was absent in 200 healthy controls. SIFT , PolyPhen and MutationTester predicted that the variant affected protein function.@*Conclusion @#This IEL family is characterized by secondary glaucoma as the first symptom which is caused by ectopia lens with inclination. The c. 3463G > A of FBN1 gene may be the pathogenic mutation leading to IEL in this family.

Kidney transplantation from donors with Marfan syndrome: report of 2 cases and literature review / 器官移植

Objective To investigate the feasibility and clinical experience of kidney transplantation from donors with Marfan syndrome (MFS). Methods Clinical data of 2 recipients undergoing kidney transplantation from the same MFS patient were retrospectively analyzed and literature review of 2 cases was conducted. Characteristics and clinical diagnosis and treatment of kidney transplantation from MFS patients were summarized. Results The Remuzzi scores of the left and right donor kidneys of the MFS patient during time-zero biopsy were 1 and 2. No significant difference was observed in the renal arteriole wall compared with other donors of brain death and cardiac death. Two recipients who received kidney transplantation from the MFS patient suffered from postoperative delayed graft function. After short-term hemodialysis, the graft function of the recipients received the left and right kidney began to gradually recover at postoperative 10 d and 20 d. After discharge, serum creatinine level of the recipient received the left kidney was ranged from 80 to 90 μmol/L, whereas that of the recipient received the right kidney kept declining, and the lowest serum creatinine level was 232 μmol/L before the submission date (at postoperative 43 d). Through literature review, two cases successfully undergoing kidney transplantation from the same MFS donor were reported. Both two recipients experienced delayed graft function, and then renal function was restored to normal. Until the publication date, 1 recipient has survived for 6 years, and the other recipient died of de novo cerebrovascular disease at postoperative 2 years. Conclusions MFS patients may serve as an acceptable source of kidney donors. However, the willingness and general conditions of the recipients should be carefully evaluated before kidney transplantation. Intraoperatively, potential risk of tear of renal arterial media should be properly treated. Extensive attention should be paid to the incidence of postoperative complications.

Compromiso aórtico en síndrome de Marfan ¿es suficiente el tratamiento de la raíz aórtica? / Aortic challenges in Marfan syndrome, is the management of the aortic root enough?

Resumen Introducción: La sobrevida de pacientes con síndrome de Marfan y compromiso de la raíz aórtica ha aumentado debido a la introducción de técnicas de reemplazo de raíz aórtica con preservación valvular. Objetivo: Identificar y caracterizar desenlaces a corto y largo plazo de pacientes con síndrome de Marfan intervenidos con la técnica de reemplazo de la raíz aórtica con reimplante de la válvula aórtica (procedimiento de Tirone David). Materiales y método: Serie de casos de pacientes con síndrome de Marfan sometidos al procedimiento quirúrgico de Tirone David entre 2002 y 2020. Se generaron curvas de Kaplan-Meier para evaluar el tiempo libre de reintervención aórtica y la sobrevida. Resultados: Se incluyeron 18 pacientes, con edad promedio de 29 años. Se identificó progresión de la enfermedad en el 35.3%, determinada por reintervención en 5 pacientes, disección aórtica tipo B en 3 pacientes, insuficiencia aórtica grave en 2 pacientes y aneurismas crónicos torácicos o abdominales en 5 pacientes. Se identificaron 3 muertes no relacionadas directamente con la progresión de la enfermedad. Conclusiones: En pacientes con síndrome de Marfan y patología de raíz aórtica, el procedimiento de reemplazo de la raíz aórtica con reimplante de la válvula aórtica es la técnica ideal por sus resultados en libertad de reintervención, sobrevida y calidad de vida. Sin embargo, la cirugía no resuelve el compromiso aórtico distal, el cual es el principal factor en la progresión de la enfermedad.

Abstract Introduction: The survival of patients with Marfan syndrome and aortic root involvement has increased over the past decades due to the introduction of valve-sparing aortic root replacement techniques. Objective: To identify and characterize the short- and long-term outcomes of patients with Marfan syndrome managed with aortic root replacement with aortic valve reimplantation (Tirone David procedure). Materials and method: A case series of patients diagnosed with Marfan syndrome who underwent the surgical procedure between 2002 and 2020. Kaplan-Meier curves were created to evaluate aortic reintervention-free time and survival. Results: 18 patients were included, the average age was 29 years; disease progression was identified in 35.3%, determined by reintervention in five patients, three patients had type B aortic dissection, two had severe aortic insufficiency and five had chronic thoracic or abdominal aneurysms. There were three deaths, not directly related to disease progression. Conclusions: In patients with Marfan syndrome and aortic root disease, aortic root replacement with aortic valve reimplantation is the ideal technique due to its results in results in avoiding the need for reintervention and improving survival and quality of life. However, surgery does not resolve distal aortic involvement, which is the main factor in disease progression.

A Case of Neonatal Marfan Syndrome Requiring Double Atrioventricular Valve Replacement due to Rapid Exacerbation of the Repaired Valves / 日本心臓血管外科学会雑誌

Neonatal Marfan syndrome is the most severe form of Marfan syndrome usually showing critical cardio-respiratory symptoms from the neonatal period or early infancy. We report a boy with this syndrome who presented with heart failure at 3 months of age and was referred to our department at 6 months old after intense medical treatment. He had enophthalmos, funnel chest, arachnodactyly, and Steinberg's thumb sign, but had no family history of Marfan syndrome or other cardiac diseases. Left ventricular dilatation, severe mitral regurgitation and moderate tricuspid regurgitation were noted on echocardiography. Mitral valvuloplasty and tricuspid annuloplasty were performed, and the regurgitation improved to trivial and mild level, respectively. However, rapid exacerbation of mitral regurgitation occurred, and the patient fell into circulatory collapse which needed circulatory support with extracorporeal membrane oxygenator (ECMO) on 18th postoperative day. In the emergency operation, the previous surgical procedures on the mitral valve were intact and we thought that rapid progression of the mitral annular dilatation and valve expansion to be the cause of exacerbation. Mitral valve replacement (Regent® 21 mm aortic) was performed, and the cardiac function improved, but ECMO was still needed because of the depressed respiratory function. Furthermore, tricuspid regurgitation due to annular dilatation and valve expansion was aggravated rapidly which needed tricuspid valve replacement (ATS® 20 mm mitral) 9 days after the mitral valve replacement. ECMO was ceased on the 37th day and the patient was extubated on 71st day. He was discharged from the hospital 5 months after the first operation. One year has passed after discharge, and he is doing well with anticoagulation. In the treatment of neonatal Marfan syndrome, surgical procedure for valve repair is still controversial and it should be remembered that rapid exacerbation of the atrioventricular valve can occur even after satisfactory valve repair and there should be no hesitation regarding surgical intervention when needed.

Progress in the Research of the Spinal Deformity Related to Marfan Syndrome / 罕见病研究

Marfan syndrome(MFS) is an autosomal dominant systemic connective tissue disease. The incidence rate of MFS is about 2-3 per 10 000. Main cause of MFS is FBN1 gene mutation. About 2/3 of MFS patients have spinal deformities, showing symptoms of scoliosis, thoracic lordosis and lumbar kyphosis, severe spondylolisthesis, dural dilatation and pedicle dystrophy. MFS scoliosis develops with age and may continue even after bone maturation. Conservative treatments such as brace are usually ineffective. Surgical treatment of main curve > 40°-45 °is recommended, but due to the special anatomical structure of MFS patients, such surgical complications as dural leakage, failure of internal fixation and revision surgery are not uncommon.

Clinical laboratory genetic diagnosis of Marfan syndrome / 中华检验医学杂志

Objective:To establish the clinical laboratory genetic diagnosis procedures for Marfan syndrome (MFS) and carry out clinical laboratory genetic diagnosis for MFS families.Methods:The second generation high-throughput sequencing was used to sequence and analyze the FBN1 gene of two MFS families who visited to Fuwai Central China Cardiovascular Hospital (Heart Center of Henan People′s Hospital) from January to December 2020, and then Sanger sequencing was used to verify the second generation high-throughput sequencing results. At the same time, the sanger sequencing of mutation sites was performed on normal family members and 100 healthy people to identify the pathogenic mutations of FBN1 gene in the MFS families. The pregnant women of two families were guided for prenatal diagnosis in the second trimester of pregnancy.Results:The clinical laboratory diagnosis of MFS showed that two MFS patients had the pathogenic mutation of c.2560T>C heterozygous mutation and c.6772T>C heterozygous mutation in FBN1 gene, respectively. The mutation was not observed in 100 healthy people and normal members in two families. The prenatal diagnosis showed that there was a heterozygous mutation of FBN1 gene c.2560T>C in the first fetus of the MFS family, which was MFS. There was no mutation in the FBN1 gene in the second fetus of the MFS family, so it was recommended to continue the pregnancy. The results of postpartum follow-up were consistent with the results of clinical laboratory diagnosis.Conclusion:The clinical laboratory genetic diagnosis procedures for MFS have been established successfully, which provides an important reference for clarifying the clinical diagnosis of MFS.

Gingival Enlargement with Marfan Syndrome: A Case Report

@#Marfan syndrome (MFS) is an autosomal dominant and multisystemic disorder affecting the connective tissues. Patients with MFS may exhibit characteristic oral features including maxillary protrusion, high palate, crowded teeth, and fragility of the temporomandibular joint. Periodontal manifestations may include a higher prevalence of gingivitis and/or periodontitis owing to the high concentration of elastic fibres in the periodontal ligament. This case report describes the management of gingival enlargement associated with MFS. The patient was successfully managed with non-surgical and surgical periodontal therapy. In patients with oral manifestations of systemic disorders, patient motivation and effective treatment planning are able to achieve the optimum periodontal and oral health outcomes.

Síndrome de Marfan. Presentación de un caso

Se presentó un paciente masculino de 8 años, con antecedentes personales de disnea, al que en el examen físico se le detectó soplo corto en foco aórtico accesorio. Se realizó ecocardiograma transtorácico. El síndrome de Marfan es una patología poco común causada por una mutación genética de fibrilina 1, imprescindible para la síntesis de fibras elásticas del tejido conectivo. Se caracteriza por una alta penetrancia y marcada heterogeneidad fenotípica. Entre las diferentes manifestaciones clínicas, la afectación cardiovascular merece una consideración especial. El diagnóstico requiere una evaluación clínica completa de múltiples órganos y sistemas. Por su ampliada sintomatología, la toma de decisiones es compleja, por tanto, cuando se sospeche síndrome de Marfan debe aplicarse la revisión de los criterios de Ghent. Dado el impacto del pronóstico y el manejo, la terapia médica temprana y la intervención quirúrgica oportuna, el paciente mejoró sustancialmente la calidad de vida.

An eight years-old male patient was presented, with a personal history of dyspnea, and who in the physical examination was found, in the Erb´s point, to have a small heart murmur. A transthoracic echocardiogram was performed. Marfan Syndrome is a rare pathology caused by a genetic mutation in fibrillin 1, essential for the synthesis of elastic connective tissue. It is associated with a high penetrance and marked phenotypic heterogeneity. Among the different clinical manifestations, cardiovascular involvement deserves special attention. Diagnosis requires a complete clinical evaluation of multiple organs and systems. Because of its extensive symptomatology, decision making is complex, therefore, when Marfan Syndrome is suspected, the revised Ghent criteria should be applied. Given the impact of prognosis and management, early medical therapy and timely surgical intervention, the patient's quality of life improved substantially.

Paciente do sexo masculino, 8 anos de idade, com história pessoal de dispnéia. Ao exame físico, detectou-se sopro curto em foco aórtico acessório. Foi realizado ecocardiograma transtorácico. A síndrome de Marfan é uma patologia rara causada por uma mutação genética da fibrilina 1, essencial para a síntese das fibras elásticas do tecido conjuntivo. É caracterizada por alta penetrância e marcada heterogeneidade fenotípica. Dentre as diferentes manifestações clínicas, o envolvimento cardiovascular merece consideração especial. O diagnóstico requer uma avaliação clínica completa de múltiplos órgãos e sistemas. Devido aos seus sintomas extensos, a tomada de decisão é complexa, portanto, quando houver suspeita de síndrome de Marfan, a revisão dos critérios de Ghent deve ser aplicada. Dado o impacto do prognóstico e tratamento, terapia médica precoce e intervenção cirúrgica oportuna, a qualidade de vida do paciente melhorou substancialmente.

Síndrome de Marfan. Presentación de un caso / Marfan syndrome. A case report

RESUMEN El síndrome de Marfan es una enfermedad genética autosómica dominante del tejido conectivo, caracterizada por una combinación variable de manifestaciones cardiovasculares, músculo-esqueléticas y oftalmológicas. A pesar del descubrimiento de las mutaciones causales, su diagnóstico resulta complejo, al exhibir una gran diversidad en su presentación clínica y carecer de características patognomónicas. El diagnóstico actual de síndrome de Marfan se basa en una serie de criterios clínicos y genéticos denominados Criterios Gante revisados. Se describe el caso de una paciente de 44 años de edad, con antecedentes de luxación del cristalino, miopía y escoliosis, sin antecedentes patológicos familiares y que cumplió con los criterios diagnósticos actuales. Se sugiere la pesquisa etiológica de afecciones como luxación del cristalino y escoliosis, por parte de las especialidades correspondientes, como traducción orgánica de una enfermedad sistémica como el síndrome de Marfan.

ABSTRACT Marfan syndrome is an autosomal dominant genetic disease of connective tissue, characterized by a variable combination of cardiovascular, musculoskeletal, and ophthalmologic manifestations. Despite the discovery of the causal mutations, its diagnosis is complex, as it exhibits great diversity in its clinical presentation and lacks pathognomonic characteristics. The current diagnosis of Marfan syndrome is based on a series of clinical and genetic criteria called the revised Ghent Criteria. The case of a 44-years-old female patient with a history of lens dislocation, myopia and scoliosis, with no family pathological history and who met current diagnostic criteria is described. The etiological investigation of conditions such as lens dislocation and scoliosis is suggested, by the corresponding specialties, as an organic translation of a systemic disease such as Marfan syndrome.

Outcomes of surgical intervention in cases of ectopia lentis

Purpose: To evaluate the outcomes of surgical intervention in cases of ectopia lentis. Methods: This retrospective study included all cases of ectopia lentis that presented between June 2015 and March 2019 in a tertiary care center. They were reviewed retrospectively. The corrected distance visual acuity (CDVA), severity of lens subluxation, type of surgery, intra?operative and post?operative complication, and specular count were recorded. Results: Seventy?eight eyes of 57 cases with a mean age at surgery of 14.73 years were analyzed. Intra?lenticular lens aspiration was the most common (n?62/78; 79.5%) surgical procedure followed by lens aspiration, intra?capsular cataract extraction, phaco?aspiration, and pars?plana lensectomy. Simultaneous intra?ocular lens (IOL) implantation was performed in 46.2% (n?32/78) of the eyes. The mean CDVA improved from 0.85 ± 0.55 logMAR to 0.44 ± 0.29 logMAR at 6 weeks follow?up. The post?operative CDVA was significantly better in the pseudo?phakic group compared to the aphakic group (p?0.02). The patient’s age at the time of surgery and the degree of subluxation did not impact the final visual outcome. Intra?operative complication included vitreous hemorrhage (n?1) and lens matter drop (n?1). Post?operative complications were noted in 26.9% of the eyes (n?21/78) with a higher complication rate in the pseudo?phakic group (p?0.00). A second intervention was required in 7.7% of the eyes (n?6/78). Conclusion: Age and degree of subluxation at the time of surgery do not influence the final visual outcome in cases of ectopia lentis undergoing lens extraction surgery. IOL implantation results in better visual outcomes but is associated with a high complication rate.

Síndrome de Marfan, una enfermedad genética con complicaciones cardiovasculares / Marfan syndrome, a genetic disease with cardiovascular complications

RESUMEN El síndrome de Marfan es un trastorno de herencia autosómica dominante causado por una alteración genética en el cromosoma 15; afecta a múltiples órganos y sistemas del tejido conjuntivo, fundamentalmente cardiovascular. Tiene la misma probabilidad de aparecer en ambos sexos, y puede ser hereditario o resultado de una mutación genética espontánea. Las complicaciones más peligrosas son las que afectan al corazón y a los vasos sanguíneos. El diagnóstico es clínico y depende de la combinación de varios criterios, lo que permite evaluar la progresión de las lesiones cardiovasculares, a la vez que determina el momento oportuno para una opción quirúrgica. El síndrome requiere de una atención multidisciplinaria para lograr una reducción de la morbimortalidad. Se presenta el caso clínico de un paciente del sexo masculino que cumplió con los criterios diagnósticos de la enfermedad. El mismo tuvo alteraciones sistémicas y complicaciones que rápidamente evolucionaron de forma desfavorable, falleciendo a pesar de los cuidados médicos.

ABSTRACT Marfan syndrome is an autosomal dominant inheritance disorder caused by a genetic alteration on chromosome 15; it affects multiple organs and systems of connective tissue, mainly cardiovascular. It is equally likely to appear in both sexes and it can be hereditary or the result of a spontaneous genetic mutation. The most dangerous complications are those that affect the heart and blood vessels. The diagnosis is clinical and depends on the combination of several criteria, which allows to evaluate the progression of cardiovascular lesions, while determining the opportune moment for a surgical option. The syndrome requires multidisciplinary care to achieve a reduction in morbidity and mortality. The clinical case of a male patient who meet the diagnostic criteria for the disease is presented. He had systemic alterations and complications that rapidly evolved unfavorably and, despite medical care, he died.

Clinical profile and outcome of ocular manifestation in Marfans syndrome in India

Purpose: Marfan syndrome (MFS) is a genetic disorder associated with considerable morbidity and mortality. Presently, well?documented information on this condition is not available in India. Methods: In this retrospective cohort study, we recruited patients with clinically diagnosed MFS who presented to the outpatient department using revised Ghent nosology. We retrieved complete ophthalmic information, including vision, anterior and posterior segments, exported from electronic medical records, and relevant investigations, surgical details, and follow?up data were obtained in a specific, pretested format. Results: Our cohort consisted of 86 eyes of 43 patients and had a male preponderance. The prevalence was 20.5 per 100,000 individuals. The mean age of the patients was 23.9 years. All eyes were treated either optically with refraction or surgically using lensectomy and vitrectomy with suture supported scleral fixated intraocular lens (IOL), which significantly affected the visual outcome (P = 0.000). Conclusion: Although considered a rare disease, MFS is commonly found in the ophthalmological setting. Refraction and surgery (lensectomy with scleral fixated IOL) may improve the vision significantly

Exon 35 skipping of FBN1 caused by c.4336G>A mutation may lead to Marfan syndrome / 中华检验医学杂志

Objective:To investigate the genetic etiology of a Marfan syndrome pedigree, and the impact of c.4336G>A variant on the splicing process of FBN1 gene.Methods:The proband was admitted to the Department of Cardiovascular Surgery of Xijing Hospital due to thoracic aortic aneurysm and dissection in August 2019. Multiplex PCR and next generation sequencing technology were used to detect 15 genes associated with hereditary aortic diseases in the proband. Then the pathogenic sites were further verified by Sanger sequencing, and above examinations were also performed among the family members of the proband. The effect of the mutation on mRNA splicing was predicted by splicing prediction software. RNAs from peripheral blood cells of the proband and the healthy person were extracted, and the effect of the mutation on mRNA splicing was verified by reverse transcription PCR and Sanger sequencing. The pathogenicity was analyzed by the recommendations from the American College of Medical Genetics (ACMG).Results:The gene panel detected a missense mutation of FBN1 gene (c.4336G>A) in the proband. Sanger sequencing results were consistent with that of panel. Sanger sequencing results showed that 4 family members were carriers of the same variant, and 3 out of the 4 family members presented signs of thoracic aortic aneurysm and dissection. The dbscSNV_ada_score and dbscSNV_rf_score software predicted that this mutation would lead to the occurrence of abnormal splicing of mRNA. The skipping of exon 35 was verified in the subsequent examinations by reverse transcription PCR and Sanger sequencing. The variant was classified as"pathogenic"according to ACMG guideline.Conclusion:FBN1 c.4336G>A mutation can cause the skipping of exon 35, and this might be the genetic mechanistic of severe cardiovascular abnormalities observed in this Marfan syndrome pedigree.

A Case of Thoracic Endovascular Aortic Repair for Subacute Aortic Dissection Stanford Type B in a Patient with Marfan Syndrome / 日本心臓血管外科学会雑誌

A 41-years-old man with Marfan syndrome developed acute aortic dissection Stanford Type B. A new entry was located at the distal aortic arch. Medical treatment was given for a month, but the proximal descending aorta expanded to 50 mm. Because he had undergone partial arch replacement at the age of 36, thoracic endovascular aortic repair (TEVAR) using the synthetic graft as proximal landing zone was performed to close the entry. Six months after TEVAR, the false lumen around the stent graft disappeared. Distal stent graft-induced new entry (d-SINE) did not occur after TEVAR. Three years after TEVAR, we performed thoracoabdominal aortic replacement because of expansion of the residual false lumen without any complication. Endovascular therapy could be useful option for extensive aortic lesion even in Marfan syndrome.

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.

Anesthetic management of a parturient with Marfan syndrome scheduled for cesarean section: case report and review of literature / Manejo anestésico de una parturienta con síndrome de Marfan programada para cesárea: informe de un caso y revisión de la literatura

Abstract: Introduction: Marfan syndrome is an inherited disorder that affects connective tissue. Case: We report the anesthetic management of a parturient with Marfan syndrome scheduled for an elective C-section. Successful use of a combined spinal-epidural technique was used to provide neuraxial anesthesia; however, she presented an unfavorable evolution due to maternal sepsis. Likewise, a literature review of combined spinal-epidural anesthesia for C-sections in Marfan syndrome pregnant women was performed. Conclusion: Anesthetic management of parturients affected by Marfan syndrome during the cesarean section can be challenging. Strict blood pressure control during the intraoperative period has cornerstone importance. Likewise, neuraxial techniques have a significant percentage of failure in these patients.

Resumen: Introducción: El síndrome de Marfan es un desorden hereditario que afecta el tejido conectivo. Caso: Reportamos el manejo anestésico de una parturienta con síndrome de Marfan programada para una cesárea electiva. Para administrar anestesia neuroaxial se utilizó un bloqueo combinado espinal-epidural; sin embargo, la paciente presentó una evolución desfavorable debido a sepsis materna. Asimismo, se realizó una revisión de la literatura del uso de esta técnica anestésica para cesárea en gestantes con síndrome de Marfan. Conclusión: El manejo anestésico de parturientas afectadas por este síndrome puede ser complicado. El control estricto de la presión arterial durante el intraoperatorio tiene importancia fundamental. Además, las técnicas neuroaxiales tienen un porcentaje significativo de fallo en estas pacientes.

Mutación c.3037G>A en el gen FBN1 asociado a síndrome de Marfan variante neonatal / Mutation c.3037G>A in the FBN1 gene associated with neonatal Marfan syndrome variant

Resumen: El síndrome de Marfan ([SM], OMIM 154700) es un trastorno del tejido conectivo que exhibe un patrón de herencia autosómico dominante, cuyas características clínicas pueden afectar de forma variable múltiples sistemas u órganos. Es causado por mutaciones en el gen FBN1 (OMIM 134797) localizado en 15q21.1. El SM neonatal es una variedad infrecuente de la entidad asociado con mutaciones en el cambio de sentido entre los exones 23-33 y mutaciones truncadas, exhibe un fenotipo más severo y alto porcentaje de mortalidad en los primeros años de vida. Se presenta el caso de adolescente masculino con SM neonatal y mutaciones en el cambio de sentido (c.3037G>A; p.Gly225Arg) en el exón 24 del gen FBN1. Ante estos hallazgos se estudió la variación fenotípica interfamiliar, la evaluación médica interdisciplinaria precoz necesaria para el manejo de las posibles complicaciones, así como el oportuno asesoramiento genético familiar.

Abstract: Marfan syndrome ([MS], OMIM 154700) is a connective tissue disorder that exhibits an autosomal dominant pattern of inheritance, whose clinical characteristics can affect multiple systems or organs in a variable way. It is caused by mutations in the FBN1 gene (OMIM 134797) located at 15q21.1. Neonatal MS is an uncommon variety of the entity associated with missense mutation between exons 23-33 and truncating mutations, exhibits a more severe phenotype and high percentage of mortality in the first years of life. The case of male adolescent with neonatal MS and missense mutation (c.3037G> A; p.Gly225Arg) in exon 24 of the FBN1 gene is presented. Given these findings, interfamilial phenotype variation, the early interdisciplinary medical evaluation necessary for the management of possible complications, as well as the appropriate family genetic counseling were studied.