Challenges in prompt identification and surgical correction of Marfan Syndrome aortic disease in a middle-income country: a case series study.

BACKGROUND: Marfan Syndrome is an autosomal dominant disease caused by pathogenetic variants in the FBN1 gene. The progressive dilatation of the aorta and the potential risk of acute aortic syndromes influence the prognosis of these patients. We aim to describe population characteristics, long-term survival, and re-intervention patterns in patients who underwent aortic surgery with a previously confirmed clinical diagnosis of Marfan Syndrome in a middle-income country. METHODS: A retrospective single-center case series study was conducted. All Marfan Syndrome patients who underwent aortic procedures from 2004 until 2021 were included. Qualitative variables were frequency-presented, while quantitative ones adopted mean ± standard deviation. A subgroup analysis between elective and emergent procedures was conducted. Kaplan-Meier plots depicted cumulative survival and re-intervention-free. Control appointments and government data tracked out-of-hospital mortality. RESULTS: Fifty patients were identified. The mean age was 38.79 ± 14.41 years, with a male-to-female ratio of 2:1. Common comorbidities included aortic valve regurgitation (66%) and hypertension (50%). Aortic aneurysms were observed in 64% without dissection and 36% with dissection. Surgical procedures comprised elective (52%) and emergent cases (48%). The most common surgery performed was the David procedure (64%), and the Bentall procedure (14%). The in-hospital mortality rate was 4%. Complications included stroke (10%), and acute kidney injury (6%). The average follow-up was 8.88 ± 5.78 years. Survival rates at 5, 10, and 15 years were 89%, 73%, and 68%, respectively. Reintervention rates at 1, 2.5, and 5 years were 10%, 14%, and 17%, respectively. The emergent subgroup was younger (37.58 ± 14.49 years), had the largest number of Stanford A aortic dissections, presented hemodynamic instability (41.67%), and had a higher requirement of reinterventions in the first 5 years of follow-up (p = 0.030). CONCLUSION: In our study, surveillance programs played a pivotal role in sustaining high survival rates and identifying re-intervention requirements. However, challenges persist, as 48% of the patients required emergent surgery. Despite not affecting survival rates, a greater requirement for reinterventions was observed, emphasizing the necessity of timely diagnosis. Enhanced educational initiatives for healthcare providers and increased patient involvement in follow-up programs are imperative to address these concerns.

Biometric and corneal characteristics in marfan syndrome with ectopia lentis.

PURPOSE: To describe the biometric and corneal characteristics of patients with Marfan Syndrome (MFS) and ectopia lentis. STUDY DESIGN: Observational, descriptive, prospective study. Subjects Individuals with MFS with ectopia lentis (EL). METHODS: Fourty-four eyes of 23 patients underwent Scheimpflug analysis using the Pentacam (Oculus, Wetzlar, Germany), axial length (AL) using the IOL master 700 (Carl Zeiss AG, Oberkochen, Germany), endothelial cell count (ECC) using the CEM-350 (NIDEK, Maihama, Japan) and corneal biomechanics evaluation with the Ocular Response Analyzer: ORA (Reichert Ophthalmic Instruments, Buffalo, New York, USA) and Corvis (Oculus, Wetzlar, Germany). Statistical analysis was performed using IBM SPSS Statistics 25.0. RESULTS: The direction of lens subluxation was most frequently supero-nasal 40.9% (18/44). Mean keratometry (Km) was 40.22±1.76 Diopters (D); mean corneal astigmatism was 1.68±0.83 D; total corneal aberrometric root mean square (RMS) was 2.237±0.795µm; higher-order aberrations (HOAs) RMS were 0.576±0.272µm; mean AL was 25.63±3.65mm; mean ECC was 3315±459cell/mm2; mean CBI was 0.13±0.24, mean TBI was 0.31±0.25, mean posterior elevation was 4.3±4.5µm; mean total corneal densitometry was 16.0±2.14 grayscale units (GSU). CONCLUSION: Increased axial length, flatter and thicker corneas with higher regular astigmatism, normal densitometry, normal corneal biomechanical indices and normal posterior elevation were observed in Marfan patients with EL.

Analysis of GPR126 polymorphisms and their relationship with scoliosis in Marfan syndrome and Marfan-like syndrome in Mexican patients.

Marfan syndrome (MFS) is an inherited connective tissue disorder. As the spinal growth depends on delicate balance of forces, conditions that affect musculoskeletal matrix often lead to spinal deformities. A large cross-sectional study revealed a 63% prevalence of scoliosis among patients with MFS. Multi-ethnic genome-wide association studies and analyses of human genetic mutations showed that variations and mutations of G protein-coupled receptor 126 (GPR126)locus are associated with multiple skeletal defects, including shorter stature and adolescent idiopathic scoliosis. The study included 54 patients with MFS and 196 control patients. The DNA was extracted from peripheral blood using the saline expulsion method and single nucleotide polymorphism (SNP) determination was carried out using TaqMan probes. Allelic discrimination was performed by RT-qPCR. Significant differences in genotype frequencies were found for SNP rs6570507 in relation to MFS and sex (recessive model, OR 2.46, 95% CI 1.03 -5.87; P = 0.03) and rs7755109 (overdominant model, OR 0.39, 95% CI 0.16-0.91; P = 0.03). The most significant association was found in SNP rs7755109, where the frequency of genotype AG was significantly different between MFS patients with scoliosis and those without (OR 5.68, 95% CI 1.09-29.48; P=0.04). This study, for the first time, examined the genetic association of SNP GPR126 with the risk of scoliosis in patients with connective tissue diseases. The study revealed that SNP rs7755109 is associated with the presence of scoliosis in Mexican patients with MFS.

[Massive aortic regurgitation with giant aorta aneurysm in Marfan syndrome] / Insuficiencia aórtica masiva con aneurisma de aorta gigante en síndrome de Marfan.

Marfan syndrome is an autosomal dominant hereditary disease that compromises various systems that usually require a multidisciplinary approach. The cause of Marfan syndrome is unknown, but recent genetic studies have related this disease to an extracellular microfibrillar defect located on chromosome 15q15-q21.3. Due to the severity of the signs and symptoms the diagnosis is usually at a very young age. We report a patient with extreme Marfan syndrome with all the particulars that this syndrome offers.

El síndrome de Marfan es una enfermedad hereditaria autosómica dominante que compromete diversos sistemas que habitualmente requieren un enfoque multidisciplinario. La causa del síndrome de Marfan es desconocida, pero recientes estudios genéticos han relacionado esta enfermedad a un defecto microfibrilar extracelular localizado en el cromosoma 15q15-q21,3. Debido a la severidad de los signos y síntomas el diagnóstico suele ser a edad muy temprana. Reportamos un paciente con síndrome de Marfan extremo con todas las particulares que éste síndrome ofrece.

Complex and Successful Management of a Symptomatic Isolated Abdominal Aortic Aneurysm in a Pregnant Woman with Marfan Syndrome.

Aortopathies associated to Marfan syndrome (MFS) are important causes of maternal death during pregnancy. We present a 27-year-old and 24-week pregnant MFS woman who arrived to the emergency department with increasing abdominal pain; an obstetric ultrasound showed an Abdominal Aortic Aneurysm (AAA), a multislice computed tomography angiography (CTA) confirmed and demonstrated a 7.3 centimeter (cm) infrarenal AAA without evidence of dissection. A multidisciplinary committee determined that an open repair would lead to a significantly high maternal-fetal morbidity and mortality. Although endovascular repair (EVAR) in MFS patients remains controversial, an urgent bridge therapy was considered to be the best option. She was transferred to the angiography suite for EVAR to prevent AAA rupture and ensure a satisfactory pregnancy. The patient and fetus presented no complications during the procedure and were discharged 3 days later. She continued her pregnancy without eventualities and an elective C-section was performed on week 36. A CTA imaging at 12 months revealed type 1A and 3 endoleaks, we decided to perform endograft explant and a definitive open repair, there were no complications during the procedure, the patient is currently asymptomatic. Our case illustrates a complex decision and management that successfully avoid morbidity and mortality of a MFS mother and her product; additionally, this experience reinforces the need for lifelong and close surveillance in these patients.

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.

[Comportamiento y decisión cardiovascular en el síndrome de MASS. Reporte de un caso y revisión de la literatura]. / Cardiovascular behavior and decision in MASS syndrome. A case report and literature review

MASS syndrome (disorder of connective tissue characterized by involvement of the mitral valve, aorta, skeleton, and skin) is a rare genetic disease with a phenotype similar to that of Marfan syndrome, but with important cardiovascular differences like the absence of aortic root aneurysm and marked mitral affection. We present a case of a patient with MASS syndrome and review the limited literature addressing these differences, and we discuss the impact this information may have in decisions regarding cardiovascular surgery.

El síndrome de MASS (que afecta a: válvula mitral [M], aorta [A], piel [S, skin], sistema musculoesquelético [S, skeletal]) es una rara enfermedad genética con un fenotipo similar al del síndrome de Marfan, pero con diferencias cardiovasculares importantes, como ausencia de afección de la raíz aórtica y marcada afectación mitral. Presentamos el caso de una paciente con síndrome de MASS y revisamos la limitada literatura con respecto a estas diferencias; finalmente discutimos acerca del impacto que pudiera tener esta información con respecto a las decisiones desde el punto de vista de la cirugía cardiovascular.

The child with a syndrome: considerations for management in the emergency department.

Children with syndromes often access emergency services and they may present unique challenges for emergency clinicians. This issue reviews 3 pediatric syndromes-spina bifida, Down syndrome, and Marfan syndrome-each of which are associated with unique emergent conditions. Patients with spina bifida have chronic colonization of bacteria in the urine, and antibiotics are not always needed. Children with Down syndrome are at risk for neurologic injury with minor trauma; advanced imaging such as magnetic resonance imaging may be needed in select cases. For children in whom a connective tissue disorder is suspected, aortic dissection and spontaneous pneumothorax must be considered. This issue reviews the pitfalls in interpreting routine testing and discusses the diagnostic and therapeutic approaches helpful in evaluating children with syndromes.

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.

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.

Thoracic Aortic Aneurysm Surgery in Marfan Patients: a Perspective from the UK.

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.

Novel double-flanged technique for managing Marfan syndrome and microspherophakia.

A new technique for fixating the capsular bag in patients with ectopia lentis is presented. In this technique, the capsulorhexis is performed using a femtosecond laser, followed by the insertion of a standard capsular tension ring to redistribute capsular forces. The nucleus is hydroprolapsed into the anterior chamber and nuclear disassembly is performed above the iris plane to reduce zonular stress. Finally, a 5-0 polypropylene monofilament is used to fixate a capsular tension segment and subluxated capsular bag. This novel double-flanged method, achieved with cautery, does not require direct suturing of the monofilament on the sclera. This article describes the use of this new technique in 3 eyes, 2 in patients with Marfan syndrome and 1 in a patient with microspherophakia.

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.

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

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.

Chylous Ascites Developing after Open Thoracoabdominal Aortic Aneurysm Repair in a Patient with Marfan Syndrome.

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.

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.