# Familial cardiac laminopathy with predominant atrial involvement: a case series of a family with LMNA mutation

**Authors:** Andreas Müssigbrodt, Romain Vergier, Maria Herrera Bethencourt, Astrid Monfort, Jocelyn Inamo, Veronique Fressart, Pascale Richard, Patrice Bouvagnet

PMC · DOI: 10.1093/ehjcr/ytaf129 · European Heart Journal. Case Reports · 2025-03-15

## TL;DR

A family with a genetic mutation in the LMNA gene shows a pattern of atrial heart rhythm issues across multiple generations.

## Contribution

This case series highlights a novel familial cardiac laminopathy with predominant atrial arrhythmias linked to an LMNA mutation.

## Key findings

- Four family members with LMNA mutation exhibit atrial arrhythmias without significant ventricular dysfunction.
- The LMNA mutation is associated with early-onset atrial fibrillation and premature atrial contractions.
- The study emphasizes the genetic basis of atrial arrhythmias in young individuals without typical risk factors.

## Abstract

We present a case series detailing a family with familial cardiac laminopathy, including the female index patient, her father, her brother, and her daughter, all diagnosed with atrial arrhythmias, i.e. atrial fibrillation (AF), atrial flutter, and atrial premature contractions.

The index patient is known for frequent premature atrial contractions since the age of 35 years and for persistent AF since the age of 46 years. Rhythm control of symptomatic AF was achieved after two ablations. The brother of the index patient is known for asymptomatic persistent AF since the age of 26 years. He has opted for rate control and oral anticoagulation. Their father had persistent AF for many years before his death. The daughter of the index patient has asymptomatic frequent premature atrial contractions. She is under medical surveillance without specific medical treatment. All four patients have a normal ventricular systolic function. Genetic testing revealed a heterozygous missense variant in the LMNA gene causing a familial form of cardiac laminopathy, with clinical predisposition to atrial arrhythmias.

The familial occurrence of atrial arrhythmias without significant ventricular involvement in several family members with heterozygous LMNA missense mutation underscores the potential genetic component in cardiac arrhythmias, especially if arrhythmias occur in younger individuals without common risk factors.

## Linked entities

- **Genes:** LMNA (lamin A/C) [NCBI Gene 4000]
- **Diseases:** atrial fibrillation (MONDO:0004981), atrial flutter (MONDO:0005310)

## Full-text entities

- **Genes:** LMNA (lamin A/C) [NCBI Gene 4000] {aka CDCD1, CDDC, CMD1A, CMT2B1, EMD2, FPL}
- **Diseases:** AF (MESH:D001281), atrial flutter (MESH:D001282), cardiac laminopathy (MESH:D000083083), arrhythmias (MESH:D001145), atrial premature contractions (MESH:D018880)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

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## References

16 references — full list in the complete paper: https://tomesphere.com/paper/PMC11969145/full.md

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Source: https://tomesphere.com/paper/PMC11969145