A case report of a novel mutation in lamin A/C gene related with risk of sudden death.

ABSTRACT:

Background

Lamin A/C-associated heart disease is a group of clinical entities characterized by a mutation in the LMNA gene. Multiple cardiac phenotypes have been described, including a higher risk of sudden death.

Case summary

A 23-year-old asymptomatic patient with an extensive history of heart disease in the family consulted the clinic. He had a genetic test performed when he was born revealing a new frameshift mutation in the LMNA gene. Numerous cardiac function tests were ordered, which initially were normal. After a year of follow-up, Holter monitoring was positive for episodes of nonsustained ventricular tachycardia (NSVT). Because of the risk factors and higher likelihood of sudden death, a decision was made to offer an implantable cardiac defibrillator

SUBMITTER: Sanchez Vallejo CA 

PROVIDER: S-EPMC9007426 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature