作者: Samer Arnous , Petros Syrris , Srijita Sen-Chowdhry , William J. McKenna
DOI: 10.1016/J.CCEP.2010.09.008
关键词: Sudden cardiac death 、 Laminopathy 、 Targeted Mutation 、 Context (language use) 、 Dilated cardiomyopathy 、 LMNA 、 Medicine 、 Cardiology 、 Internal medicine 、 Lamin 、 Cardiomyopathy
摘要: Dilated cardiomyopathy is familial in at least 40--60% of cases and causal mutations have been identified more than 40 different genes. Mutations lamin A/C (LMNA) desmosomal components appear associated with increased risk sudden cardiac death, the latter context left-dominant arrhythmogenic cardiomyopathy. Specific clinical features may be valuable identifying patients these mutations. Routine sequencing all genes implicated dilated not cost-effective present. Targeted mutation screening LMNA recommended facilitate prognostication management.