<?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>0120-5633</journal-id>
<journal-title><![CDATA[Revista Colombiana de Cardiología]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. Colomb. Cardiol.]]></abbrev-journal-title>
<issn>0120-5633</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Colombiana de Cardiologia. Oficina de Publicaciones]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0120-56332024000500318</article-id>
<article-id pub-id-type="doi">10.24875/rccar.23000032</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Tetralogía de Fallot y síndrome de agenesia valvular pulmonar en el síndrome de deleción 22q11]]></article-title>
<article-title xml:lang="en"><![CDATA[Tetralogy of Fallot and pulmonary valvular agenesis syndrome in 22q11 deletion syndrome]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[León-Domínguez]]></surname>
<given-names><![CDATA[Cristina E.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ruilova-Castillo]]></surname>
<given-names><![CDATA[María I.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Salinas-Herrera]]></surname>
<given-names><![CDATA[Medardo D.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Departamento de Genética Departamento de Genética ]]></institution>
<addr-line><![CDATA[Cuenca ]]></addr-line>
<country>Ecuador</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Departamento de Cardiología Departamento de Cardiología ]]></institution>
<addr-line><![CDATA[Cuenca ]]></addr-line>
<country>Ecuador</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Hospital Vicente Corral Moscoso Ministerio de Salud Pública ]]></institution>
<addr-line><![CDATA[Cuenca ]]></addr-line>
<country>Ecuador</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>10</month>
<year>2024</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>10</month>
<year>2024</year>
</pub-date>
<volume>31</volume>
<numero>5</numero>
<fpage>318</fpage>
<lpage>322</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0120-56332024000500318&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0120-56332024000500318&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0120-56332024000500318&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen El síndrome de deleción 22q11 o también llamado síndrome de DiGeorge, tiene una amplia variedad de síntomas y signos, siendo las de mayor prevalencia las alteraciones cardiacas conotruncales, timo hipoplásico e hipocalcemia. Se presenta el caso clínico de una recién nacida de quince días de vida, quien, al primer minuto, presentó datos clínicos de insuficiencia respiratoria, hipotonía y flacidez, por lo que fue necesario el uso de ventilación mecánica invasiva y hospitalización en la unidad de neonatología. Con base en las manifestaciones clínicas, los hallazgos imagenológicos, y los análisis citogenéticos y moleculares se planteó el diagnóstico de síndrome de microdeleción 22q11 o síndrome de DiGeorge. Al ser una enfermedad rara, cuya presentación clínica representa un reto diagnóstico para el equipo médico, el abordaje diagnóstico multidisciplinar llevado a cabo en este caso permitió obtener un diagnóstico precoz y orientar la conducta terapéutica necesaria. Este es uno de los primeros reportes de casos de síndrome de microdeleción 22q11 que se realizan en Ecuador.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract The 22q11 deletion syndrome, also called DiGeorge syndrome, has a wide variety of symptoms and signs, the most prevalent being conotruncal cardiac alterations, hypoplastic thymus and hypocalcemia. We present the clinical case of a 15-day-old newborn is reported who at the first minute presented clinical data of respiratory failure, hypotonia and flaccidity, which required the use of invasive mechanical ventilation and hospitalization in the neonatology unit. Based on the clinical manifestations, imaging findings, cytogenetic and molecular analyses, the diagnosis of 22q11 microdeletion syndrome or DiGeorge syndrome is proposed. Being a rare disease, whose clinical presentation represents a diagnostic challenge for the medical team, the multidisciplinary diagnostic approach carried out in this case allowed us to obtain an early diagnosis and guide the necessary therapeutic conduct. It is one of the first reports of cases of 22q11 microdeletion syndrome in Ecuador.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Síndrome de deleción 22q11]]></kwd>
<kwd lng="es"><![CDATA[Anomalías fenotípicas]]></kwd>
<kwd lng="es"><![CDATA[Cardiopatía congénita compleja]]></kwd>
<kwd lng="es"><![CDATA[Citogenética]]></kwd>
<kwd lng="en"><![CDATA[22q11 deletion syndrome]]></kwd>
<kwd lng="en"><![CDATA[Phenotypic abnormalities]]></kwd>
<kwd lng="en"><![CDATA[Complex congenital heart disease]]></kwd>
<kwd lng="en"><![CDATA[Cytogenetics]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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