Genetics of Dilated Cardiomyopathy: Risk of Conduction Defects and Sudden Cardiac Death

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 deathLaminopathyTargeted MutationContext (language use)Dilated cardiomyopathyLMNAMedicineCardiologyInternal medicineLaminCardiomyopathy

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.

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