<?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>0034-8376</journal-id>
<journal-title><![CDATA[Revista de investigación clínica]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. invest. clín.]]></abbrev-journal-title>
<issn>0034-8376</issn>
<publisher>
<publisher-name><![CDATA[Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0034-83762019000400226</article-id>
<article-id pub-id-type="doi">10.24875/ric.19002939</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Basic and Clinical Insights in Catecholaminergic (Familial) Polymorphic Ventricular Tachycardia]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Márquez]]></surname>
<given-names><![CDATA[Manlio F.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Totomoch-Serra]]></surname>
<given-names><![CDATA[Armando]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rueda]]></surname>
<given-names><![CDATA[Angélica]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Avelino-Cruz]]></surname>
<given-names><![CDATA[José E.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Gallegos-Cortez]]></surname>
<given-names><![CDATA[Antonio]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Instituto Nacional de Cardiología Ignacio Chávez Department of Electrocardiology ]]></institution>
<addr-line><![CDATA[Mexico City ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Instituto Politécnico Nacional Genetics and Molecular Biology ]]></institution>
<addr-line><![CDATA[Mexico City ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Instituto Politécnico Nacional Biochemistry, Centro de Investigación y de Estudios Avanzados ]]></institution>
<addr-line><![CDATA[Mexico City ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Benemérita Universidad Autónoma de Puebla Institute of Physiology ]]></institution>
<addr-line><![CDATA[Puebla ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Hospital de Alta Especialidad del Bajío Department of Electrophysiology ]]></institution>
<addr-line><![CDATA[Guanajuato ]]></addr-line>
<country>Mexico</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>08</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>08</month>
<year>2019</year>
</pub-date>
<volume>71</volume>
<numero>4</numero>
<fpage>226</fpage>
<lpage>236</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S0034-83762019000400226&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S0034-83762019000400226&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S0034-83762019000400226&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a potentially lethal disease, whose characteristic ventricular tachycardias are adrenergic-dependent. Although rare, CPVT should be considered in the differential diagnosis of young individuals with exercise-induced syncope. Mutations in five different genes (RYR2, CASQ2, CALM1, TRDN, and TECRL) are associated with the CPVT phenotype, although RYR2 missense mutations are implicated in up to 60 % of all CPVT cases. Genetic testing has an essential role in the diagnosis, management, pre-symptomatic diagnosis, counseling, and treatment of the proband; furthermore, genetic information can be useful for offspring and relatives. By expert consensus, CPVT gene testing is a Class I recommendation for patients with suspected CPVT. Beta-adrenergic and calcium-channel blockers are the cornerstones of treatment due to the catecholaminergic dependence of the arrhythmias. Unresponsive patients are treated with an implantable cardioverter-defibrillator to reduce the risk of sudden cardiac death. In the present article, a brief review of the genetic and molecular mechanisms of this intriguing disease is provided.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Sudden cardiac death]]></kwd>
<kwd lng="en"><![CDATA[Syncope]]></kwd>
<kwd lng="en"><![CDATA[Exercise]]></kwd>
<kwd lng="en"><![CDATA[Catecholaminergic polymorphic ventricular tachycardia]]></kwd>
<kwd lng="en"><![CDATA[Genetic testing]]></kwd>
<kwd lng="en"><![CDATA[Beta-blockers]]></kwd>
<kwd lng="en"><![CDATA[Calcium channel blockers]]></kwd>
</kwd-group>
</article-meta>
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