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Lamin A/C cardiomyopathy presenting as high-grade atrioventricular (AV) block, atrial fibrillation, heart failure and ventricular tachycardia in a single-family cluster
  1. Sarah Rachel Lubin1,
  2. Shweta Paulraj2 and
  3. Jamal Ahmed2
  1. 1SUNY Upstate Medical University, Syracuse, New York, USA
  2. 2Department of Medicine, SUNY Upstate Medical University, Syracuse, New York, USA
  1. Correspondence to Sarah Rachel Lubin; lubins{at}upstate.edu

Abstract

Mutations in the lamin A/C (LMNA) gene have been associated with both cardiac and skeletal muscle abnormalities. Cardiac manifestations in LMNA cardiomyopathy have a variable age of onset and range from mild to life-threatening. We describe a case series illustrating manifestations of LMNA mutation in a single family with an extensive history of cardiac disease, including sudden cardiac death, and the implications for diagnosis and management. This discussion highlights potential presentations of LMNA mutations and the importance of genetic testing in patients with a family history of conduction abnormalities.

  • Arrhythmias
  • Pacing and electrophysiology

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Footnotes

  • Contributors SP and JA identified and managed the cases and revised the draft paper. JA controlled the decision to publish. SRL and SP contributed equally to this paper. SRL is the guarantor for the finished article.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.