The proof is in the appendage: A case report of a fenestrated membrane overlying the left atrial appendage

Jaime Holbert1, Ben Shepple1, Bret Rogers1

  • 1Department of Medicine, University of Tennessee Medical Center, Knoxville, TN, USA.

Insights

A rare membrane in the left atrial appendage was incidentally discovered in a patient with arrhythmias. Genetic analysis revealed novel mutations in LMNA and SNTA1 genes, previously unreported in association with left atrial appendage membranes.

Area of Science:

  • Cardiology
  • Genetics
  • Medical Imaging

Background:

  • Recurrent arrhythmias necessitate procedures like pulmonary vein isolation.
  • Pre-procedural screening for thromboembolism risk is standard practice.
  • Transesophageal echocardiography is a key diagnostic tool.

Observation:

  • A rare fenestrated membrane was incidentally found overlying the left atrial appendage during screening.
  • The patient presented with a history of recurrent arrhythmias.
  • The membrane was identified via transesophageal echocardiogram.

Findings:

  • Genetic analysis identified mutations in the LMNA and SNTA1 genes.
  • These genetic mutations have not been previously reported in patients with left atrial appendage membranes.
  • The coexistence of a left atrial appendage membrane and these specific genetic mutations is novel.

Implications:

  • This case highlights a potential, previously unrecognized genetic association with left atrial appendage membranes.
  • Further research may elucidate the role of LMNA and SNTA1 mutations in the formation or presence of these membranes.
  • Understanding this association could refine risk stratification and management strategies for patients with arrhythmias and atrial anomalies.