A Case of Cardiogenic Stroke With a Novel LMNA Variant (c. 1135C>A; p.Leu379Ile)

Area of Science:

• Cardiovascular Medicine
• Genetics
• Neurology

Background:

• Laminopathy is a group of muscular dystrophies linked to mutations in the LMNA gene.
• LMNA gene mutations often manifest with cardiac complications, including atrial fibrillation and cardiomyopathy.
• The condition can present with progressive muscle weakness and joint contractures.

Observation:

• A 49-year-old woman with a history of limb-girdle muscle weakness, atrial fibrillation, and cardiomyopathy presented with cardiogenic stroke.
• The patient had a family history of heart disease.
• Genetic analysis revealed a novel heterozygous variant (c.1135C>A, p.Leu379Ile) in the LMNA gene.

Findings:

• The identified LMNA gene variant is associated with laminopathy.
• The patient's clinical presentation, including cardiogenic stroke, is consistent with laminopathy.
• This case identifies a novel LMNA variant contributing to laminopathy.

Implications:

• Laminopathy should be considered in the differential diagnosis of ischemic stroke, especially in young to middle-aged individuals.
• Early genetic testing for LMNA mutations can aid in diagnosing laminopathy and managing associated cardiac risks.
• Understanding the link between LMNA gene variants and neurological events can improve patient outcomes and genetic counseling.