Síndrome de hipotensión intracraneal en paciente pediátrico con síndrome de Marfan / Intracranial hypotension syndrome in a pediatric patient with Marfan syndrome

El síndrome de hipotensión intracraneal (SHI) es consecuencia del descenso de la presión de líquido cefalorraquídeo (LCR), espontáneo o secundario a antecedente traumático o enfermedad sistémica.Presentamos el caso de un niño de 11 años con cefalea ortostática y vómitos de 12 horas de evolución tras una caída sobre región sacrocoxígea; antecedente de síndrome de Marfan. La resonancia craneomedular mostró colecciones líquidas extradurales a nivel dorsal y lumbosacro compatibles con fístula de LCR. El cuadro se resolvió tras tratamiento, pero hubo dos nuevos episodios durante el seguimiento, por lo que se aplicó un parche hemático epidural a los dos años del inicio.Aunque el SHI es infrecuente en niños, debe sospecharse ante pacientes con cefalea ortostática, especialmente si existe patología favorecedora como enfermedades del tejido conectivo. Existe poca evidencia sobre el manejo en edad pediátrica, por lo que se presenta este caso y se realiza una revisión de la literatura.(AU)

Intracranial hypotension syndrome (IHS) is attributed to reduced cerebrospinal fluid (CSF) pressure. It may be spontaneous or secondary to a history of trauma or systemic disease. We present the case of an 11-year-old boy, with medical history of Marfan syndrome, with orthostatic headache and persistent vomiting (12 hours) following a fall on the sacrococcygeal region. Magnetic resonance showed extradural fluid collections at dorsal and lumbosacral levels, compatible with CSF leak. The condition was resolved with treatment, but the patient had two new episodes during the follow-up period. Thus, an epidural blood patch was performed two years after the first episode.Although HIS is uncommon in children, it should be suspected in patients with orthostatic headache, particularly if the patient presents a connectivopathy. Few studies have assessed the management of HIS in paediatric age. The case presented here and the reviewed available literature provides further data for these type of cases.(AU)

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.

Eventos aórticos en el embarazo de pacientes con síndrome de Marfan. Lecciones de un estudio multicéntrico / Aortic events in pregnant patients with Marfan syndrome. Lessons from a multicenter study

Introducción y objetivos: El embarazo en el síndrome de Marfan (SM) incrementa el riesgo de eventos aórticos. La evidencia clínica actual es escasa y no existe un consenso específico sobre el tratamiento óptimo de estas pacientes. Se presenta nuestra experiencia multicéntrica. Métodos: Entre enero de 2004 y enero de 2020, 632 pacientes con SM mantuvieron revisiones periódicas en unidades de Marfan. Durante este periodo se identificó a todas las mujeres gestantes y se analizó la incidencia de eventos aórticos durante el embarazo y el puerperio. Resultados: Se hallaron 133 embarazos de 89 mujeres (8 con cirugía de aorta previa). No hubo mortalidad materna. Cinco mujeres sufrieron eventos aórticos durante el tercer trimestre del embarazo y el puerperio (2 disecciones tipo A, 1 disección tipo B y 2 crecimientos significativos de la aorta (≥ 3 mm). La incidencia de eventos aórticos fue del 3,7%. Se evidenció una mayor tendencia a eventos con diámetros aórticos pregestacionales ≥ 40 mm (p=0,058). La mortalidad fetal fue del 3%. El 37,6% de los partos se realizaron mediante cesárea. Conclusiones: Las mujeres con SM tienen un incremento del riesgo de eventos aórticos en el embarazo, especialmente durante el tercer trimestre y el periodo posparto. Se debería valorar, en centros de referencia, la cirugía aórtica profiláctica pregestacional con diámetros aórticos ≥ 40 mm. Es importante un diagnóstico precoz, un estudio pregestacional de toda la aorta, la administración de bloqueadores beta y un estrecho seguimiento durante el embarazo, especialmente durante el último trimestre y el posparto (AU)

Introduction and objectives: Pregnancy in women with Marfan syndrome (MS) is associated with an increased risk of aortic events. The clinical evidence on pregnant patients with MS is limited and there is no specific consensus on their optimal management. We report our multicenter experience. Methods: From January 2004 to January 2020, 632 patients with MS underwent periodic monitoring in Marfan units. During this period, we identified all pregnant women with MS and analyzed the incidence of aortic events during pregnancy and puerperium. Results: There were 133 pregnancies in 89 women with MS (8 women with prior aortic surgery). There were no maternal deaths, but 5 women had aortic events during the third trimester and puerperium (type A dissections in 2, type B dissection in 1, and significant [≥ 3mm] aortic growth in 2). The aortic event rate was 3.7%. Pregestational aortic diameter≥ 40 mm showed a nonsignificant association with aortic events (P=.058). Fetal mortality was 3% and 37.6% of births were cesarean deliveries. Conclusions: Women with MS have an increased risk of aortic events during pregnancy, especially in the third trimester and postpartum period. Patients with MS and aortic diameters ≥40mm should be assessed in experienced centers for prophylactic aortic surgery before pregnancy. It is important to provide early diagnosis, prepregnancy study of the aorta, beta-blocker administration, and close monitoring during pregnancy, especially during the last trimester and postpartum (AU)

Síndrome de Marfan, una enfermedad genética con complicaciones cardiovasculares

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.

Aortic events in pregnant patients with Marfan syndrome. Lessons from a multicenter study.

INTRODUCTION AND OBJECTIVES: Pregnancy in women with Marfan syndrome (MS) is associated with an increased risk of aortic events. The clinical evidence on pregnant patients with MS is limited and there is no specific consensus on their optimal management. We report our multicenter experience. METHODS: From January 2004 to January 2020, 632 patients with MS underwent periodic monitoring in Marfan units. During this period, we identified all pregnant women with MS and analyzed the incidence of aortic events during pregnancy and puerperium. RESULTS: There were 133 pregnancies in 89 women with MS (8 women with prior aortic surgery). There were no maternal deaths, but 5 women had aortic events during the third trimester and puerperium (type A dissections in 2, type B dissection in 1, and significant [≥ 3mm] aortic growth in 2). The aortic event rate was 3.7%. Pregestational aortic diameter≥ 40mm showed a nonsignificant association with aortic events (P=.058). Fetal mortality was 3% and 37.6% of births were cesarean deliveries. CONCLUSIONS: Women with MS have an increased risk of aortic events during pregnancy, especially in the third trimester and postpartum period. Patients with MS and aortic diameters ≥40mm should be assessed in experienced centers for prophylactic aortic surgery before pregnancy. It is important to provide early diagnosis, prepregnancy study of the aorta, beta-blocker administration, and close monitoring during pregnancy, especially during the last trimester and postpartum.

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.

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.

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)

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)

Síndrome de Marfan: aspectos diagnósticos de acordo com os critérios de Ghent / Marfan Syndrome: diagnostic aspects according to Ghent criteria / Síndrome de Marfan: aspectos de diagnóstico según los criterios de Ghent

Introdução: A síndrome de Marfan é um distúrbio genético raro, com padrão de herança autossômico dominante, caracterizado por alterações no tecido conjuntivo com comprometimento, principalmente, dos sistemas esqueléticos, ocular e cardiovascular. O diagnóstico da SMF pode ser realizado clinicamente através dos critérios da nosologia Ghent ou por exame de biologia molecular para identificação de mutações no gene da Fibrilina-1 (FBN1). A nosologia Ghent é caracterizada pela presença de um conjunto de manifestações consideradas "maiores" e "menores" em vários tecidos diferentes, incluindo esquelético, ocular, cardiovascular, pulmonar, nervoso e pele. Objetivo: Aplicar os critérios da nosologia Ghent em pacientes com fenótipo clínico compatível com a síndrome de Marfan para definição do diagnóstico, tratamento e aconselhamento genético. Material e Método: Os dados foram obtidos a partir da consulta dos prontuários médicos e aplicados ao protocolo proposto pela nosologia e os escores analisados como concordantes ou não para o diagnóstico da SMF. Resultados: A amostra estudada foi composta por oito indivíduos, com idade média de 13 anos, três do gênero masculino e cinco do feminino. Destes, cinco apresentaram os critérios definidos por Ghent. Após confirmação do diagnóstico, os pacientes foram encaminhados para tratamentos médicos apropriados considerando a sintomatologia presente. Conclusão: Os resultados evidenciaram a importância da utilização da nosologia Ghent para definição diagnóstica da SMF nos casos em que o alto custo dos testes de biologia molecular inviabilizam a sua realização.(AU)

Introduction: Marfan's syndrome is a rare genetic disorder, with a dominant autosomal inheritance pattern, characterized by alterations in the connective tissue, which mainly affect the skeletal, ocular and cardiovascular systems. The diagnosis of FMS can be performed clinically through the criteria of Ghent nosology or by molecular biology examination to identify mutations in the Fibrillin-1 gene (FBN1). Ghent nosology is characterized by the presence of a set of manifestations considered "larger" and "smaller" in several different tissues, including skeletal, ocular, cardiovascular, pulmonary, nervous and skin. Objective: To apply the criteria of Ghent nosology in patients with clinical phenotype compatible with Marfan syndrome to define the diagnosis, treatment and genetic counseling. Material and Method: The data were obtained from the medical records consultation and applied to the protocol proposed by nosology and the scores analyzed as concordant or not for the diagnosis of SMF. Results: The sample studied was composed of eight individuals, with mean age of 13 years, three male and five female. Of these, five presented the criteria defined by Ghent. After confirmation of the diagnosis, the patients were referred for appropriate medical treatment considering the symptomatology present. Conclusion: The results showed the importance of the use of Ghent nosology for the diagnostic definition of FMS in cases where the high cost of molecular biology tests makes its performance impossible.(AU)

Introducción: El síndrome de Marfan es un trastorno genético poco común, con un patrón de herencia autosómico dominante, caracterizado por cambios en el tejido conectivo con afectación, principalmente del sistema esquelético, ocular y cardiovascular. El diagnóstico de SMF se puede hacer clínicamente a través de los criterios de nosología Ghent o examinando la biología molecular para identificar mutaciones en el gen de la fibrilina-1 (FBN1). La nosología Ghent se caracteriza por la presencia de un conjunto de manifestaciones consideradas "mayores" y "menores" en diversos tejidos, entre los que se encuentran el esquelético, ocular, cardiovascular, pulmonar, nervioso y cutáneo. Objetivo: Aplicar los criterios de la nosología Ghent en pacientes con un fenotipo clínico compatible con el síndrome de Marfan para definir el diagnóstico, tratamiento y consejo genético. Material y Método: Los datos se obtuvieron de la consulta de historias clínicas y se aplicaron al protocolo propuesto por nosología y se analizaron las puntuaciones como concordantes o no para el diagnóstico de SFM. Resultados: La muestra estudiada estuvo compuesta por ocho individuos, con una edad promedio de 13 años, tres hombres y cinco mujeres. De estos, cinco cumplieron los criterios definidos por Ghent. Una vez confirmado el diagnóstico, los pacientes fueron derivados a los tratamientos médicos adecuados teniendo en cuenta los síntomas presentes. Conclusión: Los resultados mostraron la importancia de utilizar la nosología Ghent para diagnosticar la SMF en los casos en que el alto costo de las pruebas de biología molecular imposibilita su realización.(AU)

Marfan syndrome revisited: From genetics to the clinic. / Síndrome de Marfan revisitada ­ da genética à clínica.

Marfan syndrome is an autosomal dominant connective tissue disease with an estimated incidence of 1 in 5000 individuals. In 90% of cases it is caused by mutations in the gene for fibrillin-1, the main constituent of extracellular microfibrils. Studies on animal models of Marfan syndrome have revealed that fibrillin-1 mutations interfere with local TGF-ß signaling, in addition to impairing tissue integrity. The cardinal features involve the cardiovascular, ocular and skeletal systems. The diagnosis of Marfan syndrome is made according to the revised Ghent nosology. Early identification and appropriate management are critical for patients with Marfan syndrome, who are prone to the life-threatening cardiovascular complications of aortic aneurysms and aortic dissection. The standard treatment includes prophylactic beta-blockers in order to slow down dilation of the ascending aorta, and prophylactic aortic surgery. The success of current medical and surgical treatment of aortic disease in Marfan syndrome has substantially improved mean life expectancy, extending it above 72 years. This review aims to provide an overview of this hereditary disorder.

Síndrome de Marfán: a propósito de dos casos / Marfan Syndrome: Regarding Two Cases

RESUMEN El síndrome de Marfán es un trastorno genético autosómico dominante, con una prevalencia de 1 cada 5 000-10 000 recién nacidos, por lo que se clasifica como una enfermedad rara. Afecta a múltiples órganos y sistemas, es la afectacióncardiovascular la que marca el pronóstico de la enfermedad. El seguimiento multidisciplinario de estos pacientes permite el diagnóstico oportuno de complicaciones y mejora su calidad de vida. Se presentan dos casos con síndrome de Marfán y otras enfermedades asociadas. Se realizó una revisión bibliográfica a propósito del reporte de 2 casos clínicos de adolescentes con características fenotípicas sugerentes, el primero con un aracnoidocele y el segundo con una enfermedad de Gilbert, asociadas.

ABSTRACT Marfan syndrome is an autosomal dominant genetic disorder, with a prevalence of 1 every 5,000-10,000 newborns, so it is classified as an uncommon disease. It affects multiple organs and systems; its prognosis is marked by the cardiovascular involvement. Multidisciplinary follow-up of these patients allows the timely diagnosis of complications and improves their quality of life. Two cases with Marfan syndrome and other associated diseases are presented. A literature review was carried out regarding the report of 2 teenager clinical cases with suggestive phenotypic characteristics, the first case with an associated arachnoidocele and the second case with Gilbert's disease.

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.

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.

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.

Síndrome de Marfan y embarazo gemelar, presentación de un caso: Case report / Marfan syndrome and twin pregnancy

Marfan syndrome is a hereditary disorder of the connective tissue. Pregnant women who suffer from this syndrome have an increased risk of cardiac complications when the aortic diameter is greater than 40 mm. We present the case of a woman with twin pregnancy and preeclampsia and late diagnosis of Marfan syndrome. We discuss the need for early diagnosis, preconception counseling and multidisciplinary management in this type of pathology.

El síndrome de Marfan es un trastorno hereditario del tejido conectivo. Aquellas mujeres embarazadas que padecen este síndrome, tienen un riesgo incrementado de complicaciones cardiacas cuando el diámetro aórtico es mayor de 40 mm. Relatamos el caso de una mujer que presentó un embarazo gemelar y preeclampsia, en quien el diagnóstico de síndrome de Marfan se realizó de manera tardía. Se discute la necesidad de un diagnóstico precoz, consejería preconcepcional y un manejo multidisciplinario en este tipo de patología.

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.