Isolated cardiac sarcoidosis associated with the expression of a splice variant coding for a truncated BTNL2 protein.

@article{Meyer2008IsolatedCS,
  title={Isolated cardiac sarcoidosis associated with the expression of a splice variant coding for a truncated BTNL2 protein.},
  author={Thomas Meyer and Joerg Lauschke and Volker Ruppert and Anette Richter and Sabine Pankuweit and Bernhard Maisch},
  journal={Cardiology},
  year={2008},
  volume={109 2},
  pages={117-21}
}
A 33-year-old woman presented with clinical signs of heart failure and previously diagnosed complete atrioventricular block. DNA sequencing revealed a homozygous point mutation in exon 5 of the btnl2 gene coding for a truncated protein which lacks the membrane-anchoring motif. This single nucleotide polymorphism is known to be a risk factor for sarcoidosis. Indeed, endomyocardial biopsy demonstrated multiple nonnecrotizing granulomas composed of epitheloid cells and moderate numbers of… CONTINUE READING