<?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>1409-0015</journal-id>
<journal-title><![CDATA[Medicina Legal de Costa Rica]]></journal-title>
<abbrev-journal-title><![CDATA[Med. leg. Costa Rica]]></abbrev-journal-title>
<issn>1409-0015</issn>
<publisher>
<publisher-name><![CDATA[Asociación Costarricense de Medicina Forense]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1409-00152017000100272</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Canalopatías en muerte súbita: Relevancia clínica de autopsia molecular]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Araya Vargas]]></surname>
<given-names><![CDATA[Jimena]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,jllana_1692@hotmail.com  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>03</month>
<year>2017</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>03</month>
<year>2017</year>
</pub-date>
<volume>34</volume>
<numero>1</numero>
<fpage>272</fpage>
<lpage>278</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.sa.cr/scielo.php?script=sci_arttext&amp;pid=S1409-00152017000100272&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.sa.cr/scielo.php?script=sci_abstract&amp;pid=S1409-00152017000100272&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.sa.cr/scielo.php?script=sci_pdf&amp;pid=S1409-00152017000100272&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen Las canalopatías abarcan una serie síndromes arrítmicos caracterizados por una presentación inicial de muerte súbita o síncope, en personas en su mayoría jóvenes y conocidas sanas, que poseen una autopsia normal. Éstas se deben a mutaciones en los genes que codifican para canales iónicos de los miocitos cardíacos, así como las proteínas asociadas a si funcionamiento o traducción. Dada su asociación hereditaria, los familiares podrían tener un riesgo aumentado de presentar el trastorno pese a estar asintomáticas. Allí radica la importancia del mapeo genético en aquellas autopsias en las que no se ha identificado la causa de muerte. La autopsia molecular permite buscar e identificar estas mutaciones y correlacionar la muerte súbita con una canalopatía. Lo cual resulta esencial para la evaluación del riesgo y la prevención de otro episodio de muerte súbita cardíaca en familiares portadores. En este artículo se exponen las canalopatías más importantes asociadas a muerte súbita, y el impacto del mapeo genético en la prevención y manejo en familiares portadores.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Channelopathies include a series of syndromes characteristic of an initial presentation of sudden death or syncope, in persons mostly young and known healthy, who have a normal autopsy. These are due to mutations in the genes encoding ionic channels of cardiac myocytes, as well as the proteins associated with whether functioning or translation. Because of their hereditary association, relatives may be at increased risk of developing the disorder despite being asymptomatic. There lies the importance of genetic mapping in those autopsies in which the cause of death has not been identified. Molecular autopsy allows searching and identifying these mutations and correlating sudden death with a channelopathy. This is essential for the evaluation of risk and prevention of another episode of sudden cardiac death in family members. This article discusses the most important channelopathies associated with sudden death, and the impact of genetic mapping on prevention and management in family members.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Canalopatías]]></kwd>
<kwd lng="es"><![CDATA[Muerte Súbita]]></kwd>
<kwd lng="es"><![CDATA[Mutaciones]]></kwd>
<kwd lng="es"><![CDATA[Mapeo Genético]]></kwd>
<kwd lng="es"><![CDATA[Autopsia Molecular]]></kwd>
<kwd lng="en"><![CDATA[Channelopathies]]></kwd>
<kwd lng="en"><![CDATA[Sudden Death]]></kwd>
<kwd lng="en"><![CDATA[Mutations]]></kwd>
<kwd lng="en"><![CDATA[Genetic Mapping]]></kwd>
<kwd lng="en"><![CDATA[Molecular Autopsy]]></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[Allague]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Campuzano]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
<name>
<surname><![CDATA[Castillo]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Coll]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Iglesias]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Brugada]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Nuevas herramientas diagnósticas en la genética de la muerte súbita]]></article-title>
<source><![CDATA[Rev Esp Cardiol Supl]]></source>
<year>2013</year>
<volume>13</volume>
<page-range>24-9</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[Kauferstein]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Kiehne]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Jenewein]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Biel]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Kopp]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Konig]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Genetic analysis of sudden unexplained death: A multidisciplinary approach]]></article-title>
<source><![CDATA[Forensic Sci Int]]></source>
<year>2013</year>
<volume>229</volume>
<page-range>122-7</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[Semsarian]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Hamilton]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Key role of the molecular autopsy in sudden unexpected death]]></article-title>
<source><![CDATA[Heart Rhythm]]></source>
<year>2012</year>
<volume>9</volume>
<page-range>145-50</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[Prystowsky]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Padanilam]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Joshi]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Fogel]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Ventricular Arrhythmias in the Absence of Structural Heart Disease]]></article-title>
<source><![CDATA[J Am Coll Cardiol]]></source>
<year>2012</year>
<volume>59</volume>
<page-range>1733-44</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[Campuzano]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
<name>
<surname><![CDATA[Sánchez-Mollero]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
<name>
<surname><![CDATA[Allague]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Coll]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Mademont-Soler]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Selga]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Postmortem genetic analysis in juvenile cases of sudden cardiac death]]></article-title>
<source><![CDATA[Forensic Sci Int]]></source>
<year>2014</year>
<volume>245</volume>
<page-range>30-7</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[Tang]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Stahl-Herz]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Sampson]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Molecular diagnostics of cardiovascular diseases in sudden unexplained death]]></article-title>
<source><![CDATA[Cardiovasc Pathol]]></source>
<year>2014</year>
<volume>23</volume>
<page-range>1-4</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[Thiene]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Carturan]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Corrado]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Basso]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Prevention of sudden cardiac death in the young and in athletes: dream or reality?]]></article-title>
<source><![CDATA[Cardiovasc Pathol]]></source>
<year>2010</year>
<volume>19</volume>
<page-range>207-17</page-range></nlm-citation>
</ref>
<ref id="B8">
<label>9</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Webster]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Berul]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[An Update on Channelopathies From Mechanisms to Management]]></article-title>
<source><![CDATA[Circulation]]></source>
<year>2013</year>
<volume>127</volume>
<page-range>126-40</page-range></nlm-citation>
</ref>
<ref id="B9">
<label>8</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hammond-Haley]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Patel]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Providência]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Lambiase]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Exercise restrictions for patients with inherited cardiac conditions: Current guidelines, challenges and limitations]]></article-title>
<source><![CDATA[Int J Cardiol]]></source>
<year>2016</year>
<page-range>234-41</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[Napolitano]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Bloise]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Monteforte]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Priori]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Sudden Cardiac Death and Genetic Ion Channelopathies: Long QT, Brugada, Short QT, Catecholaminergic Polymorphic, Ventricular Tachycardia, and Idiopathic Ventricular Fibrillation]]></article-title>
<source><![CDATA[Circulation]]></source>
<year>2012</year>
<volume>125</volume>
<page-range>2027-34</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[Giudicessi]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Ackerman]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes]]></article-title>
<source><![CDATA[Transl Res]]></source>
<year>2013</year>
<volume>161</volume>
<page-range>1-14</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[Schwartz]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Ackerman]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[George]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Wilde]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Impact of Genetics on the Clinical Management of Channelopathies]]></article-title>
<source><![CDATA[J Am Coll Cardiol]]></source>
<year>2013</year>
<volume>62</volume>
<page-range>169-80</page-range></nlm-citation>
</ref>
<ref id="B13">
<label>13</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Abriel]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Zaklyazminskaya]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Cardiac channelopathies: Genetic and molecular mechanisms]]></article-title>
<source><![CDATA[Gene]]></source>
<year>2013</year>
<volume>517</volume>
<page-range>1-11</page-range></nlm-citation>
</ref>
<ref id="B14">
<label>14</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Priori]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Wilde]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Horie]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Cho]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Behr]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Berul]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Expert Consensus Statement on Inherited Primary Arrhythmia Syndromes]]></article-title>
<source><![CDATA[Heart Rhythm]]></source>
<year>2013</year>
<volume>10</volume>
<page-range>1932-63</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[Wang]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Shah]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Um, S]]></surname>
<given-names><![CDATA[Yon]]></given-names>
</name>
<name>
<surname><![CDATA[Eng]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Zhou]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Lin]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths]]></article-title>
<source><![CDATA[Forensic Sci Int]]></source>
<year>2014</year>
<volume>237</volume>
<page-range>90-9</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[Bennett]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Sanatani]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Chakrabarti]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Deyell]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Krahn]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Assessment of Genetic Causes of Cardiac Arrest]]></article-title>
<source><![CDATA[Can J Cardiol]]></source>
<year>2013</year>
<volume>29</volume>
<page-range>100-10</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[Perrin]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Gollob]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Genetics of Cardiac Electrical Disease]]></article-title>
<source><![CDATA[Can J Cardiol]]></source>
<year>2013</year>
<volume>29</volume>
<page-range>89-99</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
