Familial atrial myopathy in a large multigenerational heart-hand syndrome pedigree carrying an LMNA missense variant in rod 2B domain (p.R335W)
Summary
LMNA p.R335W mutation leads to familial heart-hand syndrome characterized by an overlapping phenotype of prominent atrial lesions and brachydactyly. The unstable lamin dimerization and impaired DNA repair are possible mechanisms underlying cardiac phenotypes. Our findings consolidated the genetic role in the course of atrial arrhythmias and cardiac aging, which is helpful in the diagnosis and treatment of cardiac laminopathy. Copyright © 2021 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.
| Authors | Zhang Y, Lin Y, Zhang Y, Wang Y, Li Z, Zhu Y, Liu H, Ju W, Cui C, Chen M |
|---|---|
| Journal | Heart rhythm |
| Publication Date | 2022 Mar;19(3):466-475 |
| PubMed | 34808346 |
| DOI | 10.1016/j.hrthm.2021.11.022 |