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:10.1016/j.cjca.2016.11.025

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

Can J Cardiol. 2017 Apr;33(4):554.e9-554.e11. doi: 10.1016/j.cjca.2016.11.025. Epub 2016 Dec 16.

Authors

Alexa M Vermeer¹, Elisabeth M Lodder², Imke Christiaans³, Irene M van Langen⁴, Arthur A Wilde⁵, Connie R Bezzina², Rafik Tadros⁶

Affiliations

¹ Heart Center, Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, the Netherlands; Department of Clinical Genetics, Academic Medical Center, Amsterdam, the Netherlands.
² Heart Center, Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, the Netherlands.
³ Department of Clinical Genetics, Academic Medical Center, Amsterdam, the Netherlands.
⁴ Department of Clinical Genetics, University Medical Center Groningen, Groningen, the Netherlands.
⁵ 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.
⁶ 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.

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

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Aged
Aged, 80 and over
Atrioventricular Block / diagnosis
Atrioventricular Block / genetics*
DNA / genetics*
DNA Mutational Analysis
Electrocardiography
Family
Female
Genetic Testing
Humans
Male
Middle Aged
Mitral Valve Insufficiency / diagnosis
Mitral Valve Insufficiency / genetics*
Mutation*
NAV1.5 Voltage-Gated Sodium Channel / genetics*
NAV1.5 Voltage-Gated Sodium Channel / metabolism
Pedigree

Substances

NAV1.5 Voltage-Gated Sodium Channel
SCN5A protein, human
DNA