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Article

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

The Canadian journal of cardiology - 1 Apr 2017

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

Abstract excerpt

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...

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PMID: 28256430
DOI: 10.1016/j.cjca.2016.11.025

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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