<?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>1561-3194</journal-id>
<journal-title><![CDATA[Revista de Ciencias Médicas de Pinar del Río]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Ciencias Médicas]]></abbrev-journal-title>
<issn>1561-3194</issn>
<publisher>
<publisher-name><![CDATA[Editorial Ciencias Médicas]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1561-31942023000800035</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Algunas consideraciones sobre el síndrome de Marfan ligado al gen FBN1]]></article-title>
<article-title xml:lang="en"><![CDATA[Some considerations on Marfan syndrome linked to the FBN1 gene]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Morocho-Quinchuela]]></surname>
<given-names><![CDATA[Flor Betzabet]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Enrriquez-Grijalva]]></surname>
<given-names><![CDATA[Mauricio Fernando]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Jami-Carrera]]></surname>
<given-names><![CDATA[Jeanneth Elizabeth]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad Regional Autónoma de los Andes. Facultad de Ciencias Médicas Carrera de Medicina]]></institution>
<addr-line><![CDATA[Ambato ]]></addr-line>
<country>Ecuador</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>00</month>
<year>2023</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>00</month>
<year>2023</year>
</pub-date>
<volume>27</volume>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S1561-31942023000800035&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S1561-31942023000800035&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S1561-31942023000800035&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN El Síndrome de Marfan es una enfermedad rara autosómica dominante debida a cambios del gen FBN1 que se desarrolla con problemas cardiovasculares (se evidencia la dilatación de raíz aórtica), oculares (es propia la luxación del cristalino, aunque lo más recurrente es la miopía) y musculoesqueléticas, fundamentalmente. Su diagnóstico se hace de acuerdo con la escala de Ghent, aunque en el campo de la pediatría no es tan evidente, ya que las manifestaciones clínicas del Síndrome de Marfan aparecen en progreso a lo largo de los años. Por ello, en los niños que no cumplen los criterios diagnósticos no se debe efectuar un diagnóstico definitivo de ninguna otra patología hasta llegar a la edad de 20 años. En estos casos, si el paciente tiene una mutación patogénica del gen FBN1, se diagnosticarán temporalmente de Síndrome de Marfan potencial. En cambio, si no tienen una mutación patogénica del gen FBN1, se diagnosticarán provisionalmente de enfermedad inespecífica del tejido conectivo.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT Marfan syndrome is a rare autosomal dominant disease due to changes in the FBN1 gene that develops with cardiovascular (aortic root dilatation is evident), ocular (lens dislocation is typical, although the most recurrent is myopia) and musculoskeletal problems, mainly. Its diagnosis is made according to the Ghent scale, although in the field of pediatrics it is not so evident, since the clinical manifestations of Marfan syndrome appear in progress over the years. Therefore, in children who do not meet the diagnostic criteria, a definitive diagnosis of any other pathology should not be made until the age of 20 years. In these cases, if the patient has a pathogenic mutation of the FBN1 gene, they will be temporarily diagnosed with potential Marfan syndrome. On the other hand, if they do not have a pathogenic mutation of the FBN1 gene, they will be provisionally diagnosed with nonspecific connective tissue disease.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[SÍNDROME DE MARFAN]]></kwd>
<kwd lng="es"><![CDATA[ANEURISMA DE LA RAÍZ DE LA AORTA]]></kwd>
<kwd lng="es"><![CDATA[ENFERMEDADES GENÉTICAS]]></kwd>
<kwd lng="es"><![CDATA[PROLAPSO VÁLVULA MITRAL]]></kwd>
<kwd lng="en"><![CDATA[MARFAN SYNDROME]]></kwd>
<kwd lng="en"><![CDATA[AORTIC ROOT ANEURYSM]]></kwd>
<kwd lng="en"><![CDATA[GENETIC DISEASES]]></kwd>
<kwd lng="en"><![CDATA[MITRAL VALVE PROLAPSE.]]></kwd>
</kwd-group>
</article-meta>
</front><back>
<ref-list>
<ref id="B1">
<label>1</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ahn]]></surname>
<given-names><![CDATA[NU]]></given-names>
</name>
<name>
<surname><![CDATA[Sponseller]]></surname>
<given-names><![CDATA[PD]]></given-names>
</name>
<name>
<surname><![CDATA[Ahn]]></surname>
<given-names><![CDATA[UM]]></given-names>
</name>
<name>
<surname><![CDATA[Nallamshetty]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Kuszyk]]></surname>
<given-names><![CDATA[BS]]></given-names>
</name>
<name>
<surname><![CDATA[Zinreich]]></surname>
<given-names><![CDATA[SJ.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Dural ectasia is associated with back pain in Marfan syndrome.]]></article-title>
<source><![CDATA[Spine]]></source>
<year>2020</year>
<volume>25</volume>
<numero>12</numero>
<issue>12</issue>
<page-range>1562-8.</page-range></nlm-citation>
</ref>
<ref id="B2">
<label>2</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ahn]]></surname>
<given-names><![CDATA[NU]]></given-names>
</name>
<name>
<surname><![CDATA[Sponseller]]></surname>
<given-names><![CDATA[PD]]></given-names>
</name>
<name>
<surname><![CDATA[Ahn]]></surname>
<given-names><![CDATA[UM]]></given-names>
</name>
<name>
<surname><![CDATA[Nallamshetty]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Rose]]></surname>
<given-names><![CDATA[PS]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Dural ectasia in the Marfan's syndrome: MR and CT findings and criteria.]]></article-title>
<source><![CDATA[Genet Med]]></source>
<year>2020</year>
<volume>2</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>173-179.</page-range></nlm-citation>
</ref>
<ref id="B3">
<label>3</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Bisconti]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Bisetti]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Biddi]]></surname>
<given-names><![CDATA[P.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Malignant mesothelioma in subjects with Marfan's syndrome and Ehlers-Danlos syndrome: Only an apparent association?]]></article-title>
<source><![CDATA[Respiration]]></source>
<year>2020</year>
<volume>67</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>223-228.</page-range></nlm-citation>
</ref>
<ref id="B4">
<label>4.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Bresters]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Nikkels]]></surname>
<given-names><![CDATA[PG]]></given-names>
</name>
<name>
<surname><![CDATA[Meijboom]]></surname>
<given-names><![CDATA[EJ]]></given-names>
</name>
<name>
<surname><![CDATA[Hoorntje]]></surname>
<given-names><![CDATA[TM]]></given-names>
</name>
<name>
<surname><![CDATA[Pals]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Biemer]]></surname>
<given-names><![CDATA[FA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Clinical, pathological and molecular genetic findings in a case of neonatal Marfan syndrome.]]></article-title>
<source><![CDATA[Acta Pediatr]]></source>
<year>1999</year>
<volume>88</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>98-101</page-range></nlm-citation>
</ref>
<ref id="B5">
<label>5</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Dietz]]></surname>
<given-names><![CDATA[HC]]></given-names>
</name>
<name>
<surname><![CDATA[Pyeritz]]></surname>
<given-names><![CDATA[RE.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Mutations in the human gene for fibrillin-1 (FBN-1) in the Marfan's syndrome.]]></article-title>
<source><![CDATA[Hum Mol Genet]]></source>
<year>1995</year>
<volume>4</volume>
<page-range>1799-809.</page-range></nlm-citation>
</ref>
<ref id="B6">
<label>6</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Fietta]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Manganelli]]></surname>
<given-names><![CDATA[P.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Coexistent Marfan's syndrome and ankylosing spondylitis: A case report.]]></article-title>
<source><![CDATA[Clin Rheumatol]]></source>
<year>2001</year>
<volume>20</volume>
<page-range>140-142.</page-range></nlm-citation>
</ref>
<ref id="B7">
<label>7</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Furthmayr]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Francke]]></surname>
<given-names><![CDATA[U.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Ascending aortic aneurysm with or without features of Marfan's syndrome and other fibrillinopathies: new insights.]]></article-title>
<source><![CDATA[Semin Thorac Cardiovasc Surg]]></source>
<year>1997</year>
<volume>9</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>191-205.</page-range></nlm-citation>
</ref>
<ref id="B8">
<label>8</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kornbluth]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Schnitther]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Eyngorina]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Gasner]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Liang]]></surname>
<given-names><![CDATA[DH.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Clinical outcome in the Marfan's syndrome with ascending aortic dilatation followed annually by echocardiography.]]></article-title>
<source><![CDATA[Am J Cardiol]]></source>
<year>2019</year>
<volume>84</volume>
<numero>6</numero>
<issue>6</issue>
<page-range>753-755.</page-range></nlm-citation>
</ref>
<ref id="B9">
<label>9</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Manchola]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Gran]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Teixidó]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[López]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Rosés]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Sabaté]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Síndrome de Marfán y síndrome de Loeys-Dietz en la edad pediátrica: experiencia de un equipo multidisciplinar.]]></article-title>
<source><![CDATA[Rev Esp Cardiol]]></source>
<year>2018</year>
<volume>71</volume>
<numero>7</numero>
<issue>7</issue>
<page-range>5p</page-range></nlm-citation>
</ref>
<ref id="B10">
<label>10</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[McKusick]]></surname>
<given-names><![CDATA[VA.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The defect in Marfan &#769;s syndrome.]]></article-title>
<source><![CDATA[Nature]]></source>
<year>2018</year>
<volume>325</volume>
<page-range>279</page-range></nlm-citation>
</ref>
<ref id="B11">
<label>11</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ng]]></surname>
<given-names><![CDATA[DK]]></given-names>
</name>
<name>
<surname><![CDATA[Chau]]></surname>
<given-names><![CDATA[KW]]></given-names>
</name>
<name>
<surname><![CDATA[Black]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Thomas]]></surname>
<given-names><![CDATA[TM]]></given-names>
</name>
<name>
<surname><![CDATA[Mak]]></surname>
<given-names><![CDATA[KL]]></given-names>
</name>
<name>
<surname><![CDATA[Boxer]]></surname>
<given-names><![CDATA[M.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Neonatal Marfan's syndrome: a case report.]]></article-title>
<source><![CDATA[J Pediatr Child Health]]></source>
<year>1999</year>
<volume>35</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>321-3</page-range></nlm-citation>
</ref>
<ref id="B12">
<label>12.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Oosterhof]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Groenink]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Hulsmans]]></surname>
<given-names><![CDATA[FJ]]></given-names>
</name>
<name>
<surname><![CDATA[Mulder]]></surname>
<given-names><![CDATA[BJ]]></given-names>
</name>
<name>
<surname><![CDATA[Van der Wall]]></surname>
<given-names><![CDATA[EE]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Quantitative assessment of dural ectasia as a marker for Marfan's syndrome.]]></article-title>
<source><![CDATA[Radiology]]></source>
<year>2001</year>
<volume>220</volume>
<numero>2</numero>
<issue>2</issue>
</nlm-citation>
</ref>
<ref id="B13">
<label>13</label><nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Padilla]]></surname>
<given-names><![CDATA[RA]]></given-names>
</name>
</person-group>
<source><![CDATA[Tejido conectivo. En: Padilla RA. Atlas de histología, tu ayudante personal. 2da ed.]]></source>
<year>1999</year>
<volume>17</volume>
<publisher-loc><![CDATA[La Paz, Bolivia ]]></publisher-loc>
<publisher-name><![CDATA[Sagitario]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B14">
<label>14.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Robinson]]></surname>
<given-names><![CDATA[PN]]></given-names>
</name>
<name>
<surname><![CDATA[Booms]]></surname>
<given-names><![CDATA[P.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The molecular pathogenesis of the Marfan's syndrome.]]></article-title>
<source><![CDATA[Cell Mol Life Sci]]></source>
<year>2001</year>
<volume>58</volume>
<numero>11</numero>
<issue>11</issue>
<page-range>1698-1707.</page-range></nlm-citation>
</ref>
<ref id="B15">
<label>15</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Sponseller]]></surname>
<given-names><![CDATA[PD]]></given-names>
</name>
<name>
<surname><![CDATA[Ahn]]></surname>
<given-names><![CDATA[UN]]></given-names>
</name>
<name>
<surname><![CDATA[Nallamshetty]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Rose]]></surname>
<given-names><![CDATA[PS]]></given-names>
</name>
<name>
<surname><![CDATA[Kuszyk]]></surname>
<given-names><![CDATA[BS]]></given-names>
</name>
<name>
<surname><![CDATA[Fishman]]></surname>
<given-names><![CDATA[EK.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Osseous anatomy of the lumbosacral spine in Marfan's syndrome.]]></article-title>
<source><![CDATA[Spine]]></source>
<year>2000</year>
<volume>25</volume>
<numero>21</numero>
<issue>21</issue>
<page-range>2797-2802.</page-range></nlm-citation>
</ref>
<ref id="B16">
<label>16</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Thaurin]]></surname>
<given-names><![CDATA[RC]]></given-names>
</name>
<name>
<surname><![CDATA[De Monleon]]></surname>
<given-names><![CDATA[JV]]></given-names>
</name>
<name>
<surname><![CDATA[Nivelon]]></surname>
<given-names><![CDATA[CA]]></given-names>
</name>
<name>
<surname><![CDATA[Huet]]></surname>
<given-names><![CDATA[F.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Association of Marfan's syndrome and Turner &#769;s syndrome]]></article-title>
<source><![CDATA[J Pediatr Endocrinol Metab]]></source>
<year>2001</year>
<volume>14</volume>
<numero>9</numero>
<issue>9</issue>
<page-range>1661-1663.</page-range></nlm-citation>
</ref>
<ref id="B17">
<label>17</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Lucas]]></surname>
<given-names><![CDATA[RV]]></given-names>
</name>
<name>
<surname><![CDATA[Edwards]]></surname>
<given-names><![CDATA[JE.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The floppy mitral valve.]]></article-title>
<source><![CDATA[Current problems in cardiology]]></source>
<year>1984</year>
<volume>7</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>1-48.</page-range></nlm-citation>
</ref>
<ref id="B18">
<label>18.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Cole]]></surname>
<given-names><![CDATA[WG]]></given-names>
</name>
<name>
<surname><![CDATA[Chan]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Hickey]]></surname>
<given-names><![CDATA[AJ]]></given-names>
</name>
<name>
<surname><![CDATA[Wilcken]]></surname>
<given-names><![CDATA[DE.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Collagen composition of normal and myxomatous human mitral heart valves.]]></article-title>
<source><![CDATA[The Biochemical journal.]]></source>
<year>1984</year>
<volume>219</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>451-460.</page-range></nlm-citation>
</ref>
<ref id="B19">
<label>19</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Pitcher]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Spata]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Emberson]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Davies]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Halls]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Holland]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Angiotensin receptor blockers and &#946; blockers in Marfan syndrome: an individual patient data meta-analysis of randomised trials.]]></article-title>
<source><![CDATA[Lancet]]></source>
<year>2022</year>
<volume>400</volume>
<numero>10355</numero>
<issue>10355</issue>
<page-range>822-31.</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
