Familial Disease Is Not Always Genetic: A Family With Atrioventricular Block and Mitral RegurgitationVermeer, 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.
Research output: Contribution to journal › Article › Academic › peer-review
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.
|Article number||ARTN 554.e9|
|Number of pages||3|
|Journal||Canadian Journal of Cardiology|
|Early online date||16-Dec-2016|
|Publication status||Published - Apr-2017|
- Journal Article