<?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>1688-0420</journal-id>
<journal-title><![CDATA[Revista Uruguaya de Cardiología]]></journal-title>
<abbrev-journal-title><![CDATA[Rev.Urug.Cardiol.]]></abbrev-journal-title>
<issn>1688-0420</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Uruguaya de Cardiología]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1688-04202018000300314</article-id>
<article-id pub-id-type="doi">10.29277/cardio.33.3.21</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Aportes de la genética al estudio y manejo clínico de las miocardiopatías]]></article-title>
<article-title xml:lang="en"><![CDATA[Genetic contributions to the study and clinical management of cardiomyopathies]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ortiz-Genga]]></surname>
<given-names><![CDATA[Martín F.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ochoa]]></surname>
<given-names><![CDATA[Juan P.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Monserrat]]></surname>
<given-names><![CDATA[Lorenzo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Departamento Científico Health in Code SL  ]]></institution>
<addr-line><![CDATA[ A Coruña]]></addr-line>
<country>España</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad de A Coruña Grupo de Investigación Cardiovascular GRINCAR ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Spain</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2018</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2018</year>
</pub-date>
<volume>33</volume>
<numero>3</numero>
<fpage>314</fpage>
<lpage>357</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_arttext&amp;pid=S1688-04202018000300314&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_abstract&amp;pid=S1688-04202018000300314&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_pdf&amp;pid=S1688-04202018000300314&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen: Las miocardiopatías son patologías muy heterogéneas asociadas a muerte súbita en jóvenes, cuyo diagnóstico y pronóstico son difíciles de establecer. El estudio genético puede ser una herramienta importante para el abordaje de estos pacientes y sus familias. Son generalmente patologías monogénicas, con penetrancia incompleta y expresividad clínica variable. Múltiples causas genéticas subyacen a la misma patología y un mismo gen puede estar asociado con fenotipos diferentes. La tecnología disponible en la actualidad permite analizar todos los genes importantes para cada fenotipo, con costos y tiempos de entrega de los resultados muy razonables. La rentabilidad del estudio genético depende de cada patología y de la probabilidad pretest de cada paciente particular. La interpretación de un estudio genético es una tarea compleja y un aspecto limitante para una correcta implementación clínica. Depende de múltiples variables y deberá ser realizado por equipos multidisciplinares con experiencia clínica en las patologías y los genes asociados. Un estudio genético positivo aportará mucha información diagnóstica y pronóstica para el paciente y su familia. Esto permitirá hacer recomendaciones en el estilo de vida, seleccionar tratamientos específicos para determinadas patologías, y decidir con más precisión el momento oportuno para implementar técnicas preventivas invasivas. Está demostrado que el screening genético en cascada luego de un resultado positivo es una estrategia costo-efectiva, que permite grandes ahorros en seguimientos clínicos innecesarios para focalizar los recursos en individuos genéticamente predispuestos.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Summary: Cardiomyopathies are heterogeneous diseases associated with sudden death in the young. The diagnosis and associated prognosis is sometimes difficult to establish. The genetic study could be an important tool for the clinical work-up of patients and families with these diseases. Cardiomyopathies are usually monogenic diseases, with incomplete penetrance and variable clinical expressivity. Several genes are associated with the same phenotype, and a particular gene could be related with different diseases. All the genes related with a particular phenotype could be study with the available sequencing technology at a reasonable price and turnaround time for the results. The yield of genetic tests depends on the type of cardiomyopathy and is specifically driven by the clinical pre-test probability of each case. The interpretation of genetic studies is complex and the main challenge for the correct clinical application of the results. Interpretation depends on several variables and should be performed by multidisciplinary teams with clinical and genetic expertise on cardiomyopathies. A positive genetic study could contribute with important diagnostic and prognostic information for the patient and the family. This information could be useful for life-style modifications, specific treatment selection and, in some cases, to decide the correct moment for primary prevention device&#8217;s implantation. Cascade family screening after a positive genetic diagnosis is a cost-effective strategy for health-care systems.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Miocardiopatías]]></kwd>
<kwd lng="es"><![CDATA[Muerte súbita]]></kwd>
<kwd lng="en"><![CDATA[Cardiomyopathies]]></kwd>
<kwd lng="en"><![CDATA[Sudden death]]></kwd>
</kwd-group>
</article-meta>
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