<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>1028-9933</journal-id>
<journal-title><![CDATA[Revista Información Científica]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. inf. cient.]]></abbrev-journal-title>
<issn>1028-9933</issn>
<publisher>
<publisher-name><![CDATA[Universidad de Ciencias Médicas Guantánamo]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1028-99332022000500013</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome de Marfan. Presentación de un caso]]></article-title>
<article-title xml:lang="en"><![CDATA[Marfan Syndrome. Presentation of a case]]></article-title>
<article-title xml:lang="pt"><![CDATA[Síndrome de Marfan. Apresentação de um caso]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Peñafiel-Criollo]]></surname>
<given-names><![CDATA[Evelyn Johana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Almache-Tercero]]></surname>
<given-names><![CDATA[Rosa Lisbeth]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cobo-Álvarez]]></surname>
<given-names><![CDATA[Daniela Abigail]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad Regional Autónoma de los Andes  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Ecuador</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>10</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>10</month>
<year>2022</year>
</pub-date>
<volume>101</volume>
<numero>5</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S1028-99332022000500013&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S1028-99332022000500013&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S1028-99332022000500013&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN 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.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT 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.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[RESUMO 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.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[síndrome de Marfan]]></kwd>
<kwd lng="es"><![CDATA[genética]]></kwd>
<kwd lng="es"><![CDATA[mutación]]></kwd>
<kwd lng="es"><![CDATA[fibrilina]]></kwd>
<kwd lng="en"><![CDATA[Marfan Syndrome]]></kwd>
<kwd lng="en"><![CDATA[genetics]]></kwd>
<kwd lng="en"><![CDATA[mutation]]></kwd>
<kwd lng="en"><![CDATA[fibrillin]]></kwd>
<kwd lng="pt"><![CDATA[Síndrome de Marfan]]></kwd>
<kwd lng="pt"><![CDATA[genética]]></kwd>
<kwd lng="pt"><![CDATA[mutação]]></kwd>
<kwd lng="pt"><![CDATA[fibrilina]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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