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

摘要

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.