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

Heart Center, Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, the Netherlands; Department of Clinical Genetics, Academic Medical Center, Amsterdam, the Netherlands. Heart Center, Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, the Netherlands. Department of Clinical Genetics, Academic Medical Center, Amsterdam, the Netherlands. Department of Clinical Genetics, University Medical Center Groningen, Groningen, the Netherlands. Heart Center, Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, the Netherlands; Princess Al-Jawhara Al-Brahim Centre of Excellence in Research of Hereditary Disorders, Jeddah, Saudi Arabia. Heart Center, Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, the Netherlands; Department of Medicine, Montreal Heart Institute and University of Montreal, Montreal, Canada. Electronic address: r.tadros@amc.uva.nl.

The Canadian journal of cardiology. 2017;(4):554.e9-554.e11
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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.

Methodological quality

Publication Type : Case Reports

Metadata

MeSH terms : DNA