<?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>0001-6002</journal-id>
<journal-title><![CDATA[Acta Médica Costarricense]]></journal-title>
<abbrev-journal-title><![CDATA[Acta méd. costarric]]></abbrev-journal-title>
<issn>0001-6002</issn>
<publisher>
<publisher-name><![CDATA[Colegio de Médicos y Cirujanos de Costa Rica]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0001-60022023000200092</article-id>
<article-id pub-id-type="doi">10.51481/amc.v65i2.1302</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Deficiencia congénita de factor VII]]></article-title>
<article-title xml:lang="en"><![CDATA[Congenital factor VII deficiency]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Patiño-Pereira]]></surname>
<given-names><![CDATA[Elieth]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Valverde- Muñoz]]></surname>
<given-names><![CDATA[Kathia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Granados-Alfaro]]></surname>
<given-names><![CDATA[Paola]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Santamaría-Quesada]]></surname>
<given-names><![CDATA[Carlos]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Costa Rica Escuela de Medicina ]]></institution>
<addr-line><![CDATA[ San José]]></addr-line>
<country>Costa Rica</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Caja Costarricense Seguro Social Hospital Nacional de Niños &#8220;Dr. Carlos Sáenz Herrera&#8221; Hematología Pediátrica.]]></institution>
<addr-line><![CDATA[ San José]]></addr-line>
<country>Costa Rica</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Caja Costarricense Seguro Social Hospital Nacional de Niños &#8220;Dr. Carlos Sáenz Herrera Hematología Pediátrica]]></institution>
<addr-line><![CDATA[ San José]]></addr-line>
<country>Costa Rica</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Caja Costarricense Seguro Social Hospital Nacional de Niños &#8220;Dr. Carlos Sáenz Herrera Laboratorio de Diagnóstico Molecular.]]></institution>
<addr-line><![CDATA[ San José]]></addr-line>
<country>Costa Rica</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2023</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2023</year>
</pub-date>
<volume>65</volume>
<numero>2</numero>
<fpage>92</fpage>
<lpage>96</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.sa.cr/scielo.php?script=sci_arttext&amp;pid=S0001-60022023000200092&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.sa.cr/scielo.php?script=sci_abstract&amp;pid=S0001-60022023000200092&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.sa.cr/scielo.php?script=sci_pdf&amp;pid=S0001-60022023000200092&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen La deficiencia congénita de factor VII es uno de los desórdenes congénitos de la coagulación más comunes, con una prevalencia a nivel mundial de 1:300,000- 1:500,000. Se presenta el caso de un paciente masculino de 37 semanas y 5 días, nacido por cesárea intraparto y con el antecedente heredofamiliar de muerte de hermano a los 4 días de nacido por hemorragia intracraneal, quien a los 14 días de nacido es llevado a emergencias por sangrado umbilical que persistía después del desprendimiento del cordón. Su abordaje inicial incluyó la toma de tiempos de coagulación, lo que mostró alteración del tiempo de protrombina con tiempo de tromboplastina parcial y fibrinógeno normales. El sangrado, así como el tiempo de protrombina prolongado, persistió a pesar de que se administrara vitamina K en tres ocasiones y de transfundir plasma fresco congelado. Se sospechó defecto congénito de factor VII, que se confirmó con la cuantificación del factor. A los 2 meses y 10 días de edad, se le realizaron estudios moleculares basados en secuenciación masiva de nueva generación (NGS por sus siglas en inglés). El análisis determinó dos variantes heterocigotas: F7, intrón 5, c.430+1G&gt;A y F7, intrón 8, c.805+1G&gt;A. Actualmente, el paciente se maneja con profilaxis 5 días de la semana con factor VII recombinante 200 µg/día intravenoso (280 µg/kg) sin recurrencia de sangrados.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Factor VII congenital deficiency is one of the most common congenital deficiencies of the blood system, with a worldwide prevalence of 1:300,000- 1:500,000. Here we describe a male patient, born by C section, with the family history of death at 4 days old of a sibling caused by intracranial hemorrhage, who presented bleeding at the umbilical cord site at 14 days old, even after falling of the cord. The initial assessment included laboratory tests with coagulation times revealing prolonged prothrombin time, with normal partial thromboplastin time as well as fibrinogen. The bleeding and the prolonged prothrombin time persisted despite the administration of vitamin K in three doses as well as fresh frozen plasma. Congenital defect of factor VII was suspected and later confirmed by measuring the factor. At the age of 2 months and 10 days, molecular studies based on next-generation massive sequencing (NGS) were performed. The analysis exhibited two heterozygous variants: F7, intron 5, c.430+1G&gt;A y F7, intron 8, c.805+1G&gt;A. Currently the patient is receiving prophylaxis 5 days per week with recombinant factor VII 200 µg/ day intravenous (280 µg/kg) with no recurrent bleeding.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[(DeCS) deficiencia del factor VII]]></kwd>
<kwd lng="es"><![CDATA[hemorragia intracraneal]]></kwd>
<kwd lng="es"><![CDATA[tiempo de protrombina]]></kwd>
<kwd lng="es"><![CDATA[herencia genética.]]></kwd>
<kwd lng="en"><![CDATA[factor VII deficiency]]></kwd>
<kwd lng="en"><![CDATA[intracranial hemorrhage]]></kwd>
<kwd lng="en"><![CDATA[prothrombin time]]></kwd>
<kwd lng="en"><![CDATA[genetic inheritance]]></kwd>
</kwd-group>
</article-meta>
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