扩张性心肌病猝死表型——伴有核纤层蛋白 A/C 突变的家族的一种不寻常表现。

Expanding the phenotype of sudden cardiac death-An unusual presentation of a family with a Lamin A/C mutation.

出版信息

Int J Cardiol. 2010 Jan 7;138(1):97-9. doi: 10.1016/j.ijcard.2008.06.008. Epub 2008 Aug 8.

DOI:10.1016/j.ijcard.2008.06.008

Abstract

Familial occurrence of sudden cardiac death (SCD) is related to a variety of clinical conditions, which can be delineated in up to 40% of families through a combination of cardiovascular examination and genetic studies. Patients with Lamin A/C gene mutations are at increased risk for SCD, but "laminopathies" are not included into clinical algorithms of SCD. Here we present a family with SCD in the absence of left ventricular dysfunction, related to a Lamin A/C mutation.

摘要

家族性心源性猝死（SCD）的发生与多种临床情况有关，通过心血管检查和基因研究的结合，高达 40%的家族可以明确其相关病因。Lamin A/C 基因突变的患者 SCD 风险增加，但“核纤层病”并未被纳入 SCD 的临床算法中。本文报道了一个无左心室功能障碍的 SCD 家族，与 Lamin A/C 基因突变有关。