Novel pathogenic variant in LMNA gene identified in a six-generation family causing atrial cardiomyopathy and associated right atrial conduction arrhythmias

Novel pathogenic variant in LMNA gene identified in a six-generation family causing atrial cardiomyopathy and associated right atrial conduction arrhythmias

ObjectiveTo characterize the cardiac phenotype associated with the novel pathogenic variant (c.1526del) of LMNA gene, which we identified in a large, six-generation family.Methods and ResultsA family tree was constructed. The clinical data of living and deceased family members were collected. DNA sa...

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Bibliographic Details
Main Authors: Shifeng Ning, Min Han, Rujie Qiu, Xiaoming Hong, Zhao Xia, Li Liu, Chengwei Liu
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-07-01
Series:Frontiers in Cardiovascular Medicine
Subjects:
LMNA gene mutation
pathogenic variant
atrial cardiomyopathy
right atrial enlargement
atrial standstill
bicuspid aortic valve malformation
Online Access:https://www.frontiersin.org/articles/10.3389/fcvm.2023.1109008/full

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