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.
authors.affiliation: Heart Center, Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, the Netherlands; Department of Clinical Genetics, Academic Medical Center, Amsterdam, the Netherlands.
authors.forename: Alexa M
authors.initials: AM
authors.lastname: Vermeer
authors.affiliation: Heart Center, Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, the Netherlands.
authors.forename: Elisabeth M
authors.initials: EM
authors.lastname: Lodder
authors.affiliation: Department of Clinical Genetics, Academic Medical Center, Amsterdam, the Netherlands.
authors.forename: Imke
authors.initials: I
authors.lastname: Christiaans
authors.affiliation: Department of Clinical Genetics, University Medical Center Groningen, Groningen, the Netherlands.
authors.forename: Irene M
authors.initials: IM
authors.lastname: van Langen
authors.affiliation: 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.
authors.forename: Arthur A
authors.initials: AA
authors.lastname: Wilde
authors.affiliation: Heart Center, Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, the Netherlands.
authors.forename: Connie R
authors.initials: CR
authors.lastname: Bezzina
authors.affiliation: 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.
authors.forename: Rafik
authors.initials: R
authors.lastname: Tadros
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D054537:Atrioventricular Block / Q000175:diagnosis / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D004562:Electrocardiography; D005190:Family; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D008944:Mitral Valve Insufficiency / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D062554:NAV1.5 Voltage-Gated Sodium Channel / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree
chemical_list: D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human; D004247:DNA