Møller Daniel Vega, Køber Lars, Havndrup Ole, Pham Tam Thanh, Bundgaard Henning, Christiansen Michael
Sektor for Forskning og Udvikling, Klinisk Biokemisk og Immunologisk Afdeling, Statens Serum Institut, 85/141, 2300 København S, Denmark.
Ugeskr Laeger. 2011 Jan 17;173(3):190-3.
Mutations in the Lamin A/C gene (LMNA) are a new part of the spectrum of genes responsible for sudden cardiac death (SCD). Relatives of SCD-cases should receive counselling, clinical assessment and perhaps molecular screening. The consequence of being an LMNA mutation carrier is discussed with regard to counselling and prophylactic measures. Device therapy may be relevant in LMNA-mutation carriers, although the proper time for implantation is uncertain. However, we recommend LMNA genetic screening in SCD cases with dilated cardiomyopathy as well as cases with unexplained SCD.
核纤层蛋白A/C基因（LMNA）突变是导致心源性猝死（SCD）的基因谱中的新成员。SCD病例的亲属应接受咨询、临床评估，或许还应进行分子筛查。就咨询和预防措施而言，讨论了作为LMNA突变携带者的后果。器械治疗可能与LMNA突变携带者相关，尽管植入的合适时机尚不确定。然而，我们建议对患有扩张型心肌病的SCD病例以及原因不明的SCD病例进行LMNA基因筛查。
