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

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

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

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
Volume33
Issue number4
Early online date16-Dec-2016
DOIs
Publication statusPublished - Apr-2017

Keywords

  • Journal Article

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