2014
DOI: 10.1007/s00392-014-0794-z
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Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy

Abstract: Arrhythmogenic right ventricular cardiomyopathy is an inherited cardiac entity characterized by right ventricular, or biventricular, fibrofatty replacement of myocardium. Structural alterations may lead to sudden cardiac death, mainly in young males during exercise. Autosomal dominant pattern of inheritance is reported in most parts of pathogenic genetic variations identified. Currently, 13 genes have been associated with the disease but nearly 40 % of clinically diagnosed cases remain without a genetic diagno… Show more

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Cited by 14 publications
(20 citation statements)
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References 121 publications
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“…The obvious advantages of this system are described as a minimization of lead complications as well as systemic infections. The system is especially attractive for patients with congenital heart disease [1], other rare entities impeding transvenous lead implantation [2,3] or electrical heart disease [4,5]. The early results of the worldwide EFFORTLESS-registry demonstrated an appropriate system performance.…”
Section: Sirsmentioning
confidence: 97%
“…The obvious advantages of this system are described as a minimization of lead complications as well as systemic infections. The system is especially attractive for patients with congenital heart disease [1], other rare entities impeding transvenous lead implantation [2,3] or electrical heart disease [4,5]. The early results of the worldwide EFFORTLESS-registry demonstrated an appropriate system performance.…”
Section: Sirsmentioning
confidence: 97%
“…Se estima que la prevalencia es alrededor de 1:2,500-1:5,000 en población en general, siendo mayor en el género masculino (3:1). El rango de edad de presentación es variable (entre 12 y 50 años), con una media estimada de 31 años, siendo poco frecuente después de los 60 años 1,2,5,7 . La M/DAVD es una de las principales causas de MSC debido a taquiarritmias ventriculares, especialmente en población menor de 35 años y/o atletas 2,10 .…”
Section: Epidemiologíaunclassified
“…Desde su primera descripción, se han realizado esfuerzos por mejorar su comprensión, planteando nuevas estrategias centradas en un diagnóstico precoz mediante la evaluación de las alteraciones cardiacas funcionales y estructurales características de esta entidad, así como la realización de pruebas genéticas en los pacientes considerados de alto riesgo. El objetivo principal del tratamiento es reducir el riesgo de MSC y mejorar la calidad de vida de los pacientes 2,4,5 . Este artículo tiene como objetivo reportar el caso de una paciente con síncope quien después de varios estudios complementarios es diagnosticada con M/DAVD, así como realizar la revisión bibliográfica del tema.…”
Section: Introductionunclassified
“…The obvious advantages of this system are marketed as a minimization of lead complications and systemic infections. This innovative system can particularly be considered in patients with congenital heart disease, other rare entities impeding transvenous lead implantation, or electrical heart disease . The early results of the worldwide Evaluation oF FactORs ImpacTing CLinical Outcome and Cost EffectiveneSS (EFFORTLESS) registry suggested an appropriate system performance.…”
Section: Introductionmentioning
confidence: 99%
“…This innovative system can particularly be considered in patients with congenital heart disease, 3 other rare entities impeding transvenous lead implantation, 4 or electrical heart disease. 5,6 The early results of the worldwide Evaluation oF FactORs ImpacTing CLinical Outcome and Cost Effective-neSS (EFFORTLESS) registry suggested an appropriate system performance. Occurrence of arrhythmic events and inappropriate shocks resembled those reported for conventional transvenous ICD systems.…”
mentioning
confidence: 99%