Familial Disease Is Not Always Genetic: A Family With Atrioventricular Block and Mitral Regurgitation

Vermeer, A. M., Lodder, E. M., Christiaans, I., van Langen, I. M., Wilde, A. A., Bezzina, C. R. & Tadros, R., Apr-2017, In : Canadian Journal of Cardiology. 33, 4, p. 554.e9-554.e11 3 p., ARTN 554.e9.

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  • Familial Disease Is Not Always Genetic

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  • Alexa M. Vermeer
  • Elisabeth M. Lodder
  • Imke Christiaans
  • Irene M. van Langen
  • Arthur A. Wilde
  • Connie R. Bezzina
  • Rafik Tadros

We present a family from a founder population referred for cardiogenetic evaluation for atrioventricular block in 3 siblings. Genetic testing, including whole-exome sequencing, did not identify a disease-causing mutation. After reconsidering the differential diagnosis, a nongenetic cause was identified. This case highlights the importance of a thorough clinical evaluation even when a genetic cause is seemingly obvious.

Original languageEnglish
Article numberARTN 554.e9
Pages (from-to)554.e9-554.e11
Number of pages3
JournalCanadian Journal of Cardiology
Issue number4
Early online date16-Dec-2016
Publication statusPublished - Apr-2017


  • Journal Article

ID: 40346075