Key result
Heterozygous LMNA missense mutation linked to early-onset atrial arrhythmias with normal LVEF.
Case Report (n=4)
A heterozygous LMNA missense mutation can present with familial atrial arrhythmias without significant ventricular involvement, highlighting the importance of genetic testing in young individuals with unexplained arrhythmias.
Broadens LMNA phenotype to isolated atrial disease; leaves open whether genetic testing changes management in early-onset familial arrhythmias.
Background 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. Case summary 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. Discussion 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.
No takes yet. Share an insight, caveat, or question.
Müssigbrodt et al. (2025) conducted a case report in Familial cardiac laminopathy with atrial arrhythmias (n=4). Genetic testing was evaluated on Identification of genetic variant and clinical phenotype. A heterozygous LMNA missense mutation was identified in four family members presenting with early-onset atrial arrhythmias and normal ventricular systolic function.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: