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

doi:https://doi.org/10.1016/j.cjca.2016.11.025

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

Research output: Contribution to journal › Article › Academic › peer-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 language	English
Pages (from-to)	554.e9-554.e11
Journal	Canadian Journal of Cardiology
Volume	33
Issue number	4
DOIs	https://doi.org/10.1016/j.cjca.2016.11.025
Publication status	Published - 2017

Access to Document

https://doi.org/10.1016/j.cjca.2016.11.025

Cite this

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title = "Familial Disease Is Not Always Genetic: A Family With Atrioventricular Block and Mitral Regurgitation",

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",

author = "Vermeer, {Alexa M.} and Lodder, {Elisabeth M.} and Imke Christiaans and {van Langen}, {Irene M.} and Wilde, {Arthur A.} and Bezzina, {Connie R.} and Rafik Tadros",

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AU - Vermeer, Alexa M.

AU - Lodder, Elisabeth M.

AU - Christiaans, Imke

AU - van Langen, Irene M.

AU - Wilde, Arthur A.

AU - Bezzina, Connie R.

AU - Tadros, Rafik

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AB - 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

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DO - https://doi.org/10.1016/j.cjca.2016.11.025

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SP - 554.e9-554.e11

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