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        "resumen" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Presentamos el caso de una mujer de 28 a&#241;os&#44; diagnosticada de prolapso de la v&#225;lvula mitral con insuficiencia mitral moderada que ingres&#243; en la unidad para monitorizaci&#243;n del ritmo card&#237;aco al presentar arritmias ventriculares con el hallazgo de QTc prolongado sin causa conocida&#46; Durante su ingreso mostr&#243;&#44; sin embargo&#44; predominancia de la bradicardia sinusal&#44; marcapasos errante y en ocasiones taquicardias supraventriculares&#46; La observaci&#243;n de los trastornos del ritmo&#44; las malformaciones esquel&#233;ticas&#44; similares a las presentes en un familiar directo y el diagn&#243;stico de cardiopat&#237;a estructural nos hizo pensar en la presencia de un s&#237;ndrome mendeliano que englobara estos hallazgos&#46; Esto facilit&#243; el diagn&#243;stico del s&#237;ndrome de Holt-Oram&#46;</p>"
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        "resumen" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Holt-Oram syndrome is an autosomal dominant disease due to a genetic mutation at chromosome 12q&#46; It is characterized by malformations of the upper extremities and congenital heart disease&#44; which may be familial or present in an isolated individual&#46; Malformation of the upper extremities range from the scarcely noticeable&#44; such as hypoplasia of a finger&#47;digital hypoplasia to severe hypoplasia or lack of arms&#46; The most common cardiac abnormality is atrial septal defect although other structural alterations have been described&#44; as well as different types of arrhythmias&#44; especially atrioventricular conduction abnormalities for wich electrostimulation with a permanent pacemaker is sometimes required&#46;</p><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">We present the case of a 28-year-old woman&#44; diagnosed with mitral valve prolapse and moderate mitral insufficiency&#46; On presentig ventricular arrhythmia with prolonged QTc with no known cause&#44; she was admitted to the intensive care unit for cardiac rhythm monitoring&#46; While in hospital&#44; however&#44; she showed predominance of sinus bradycardia&#44; erratic pacemaker and occasional supraventricular tachycardias&#46; The observation of rhythmic alterations&#44; skeletal malformations&#44; similar to those of a direct relative and the diagnosis of structural heart disease led to the suspicion of a Mendelian syndrome which would include these findings&#46; These observations lead to the diagnosis of Holt-Oram syndrome&#46;</p>"
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Síndrome de Holt-Oram
Holt-Oram Syndrome
A. Canabal Berlanga1, S. Sáez Noguero, C. Martín Parra, D. Cabestrero Alonso, T. Álvarez Pérez, A. Robas Gómez
Servicio de Medicina Intensiva. Hospital Provincial de la Misericordia. Toledo
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Información del artículo
ISSN: 02105691
Idioma original: Español
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