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Red herring pathogenic variants: a case report of premature ventricular contraction-triggered ventricular fibrillation with an incidental pathogenic LMNA variant.

Ramin GarmanyRaquel Almeida Lopes NevesFatima Ali AhmedDavid J TesterBryan C CannonJohn R GiudicessiMichael J Ackerman
Published in: European heart journal. Case reports (2022)
This case demonstrates the identification of a coincidental pathogenic variant in a cardiomyopathy gene in a patient with cardiac arrest. Although this variant could lead to cardiomyopathy, it appears the cardiac arrest was not due to the pathogenic variant. This highlights the need to consider the clinical phenotype when interpreting genetic test results for cardiomyopathies even in the presence of a positive genetic test result.
Keyphrases
  • cardiac arrest
  • heart failure
  • copy number
  • cardiopulmonary resuscitation
  • genome wide
  • left ventricular
  • case report
  • gene expression
  • atrial fibrillation
  • smooth muscle
  • genome wide identification