Juvenile-onset multifocal atrial arrhythmias, atrial standstill and compound heterozygosity of genetic variants in TAF1A: sentinel event for evolving dilated cardiomyopathy—a case report

Rachel M A ter Bekke; Koen de Schouwer; Sergio Conti; Godelieve R F Claes; Jo Vanoevelen; Suzanne Gommers; Apollonia T J M Helderman-van den Enden; Hans-Peter Brunner-LaRocca

doi:10.1093/ehjcr/ytad255

Back

Juvenile-onset multifocal atrial arrhythmias, atrial standstill and compound heterozygosity of genetic variants in TAF1A: sentinel event for evolving dilated cardiomyopathy—a case report

Journal article

Peer reviewed

Juvenile-onset multifocal atrial arrhythmias, atrial standstill and compound heterozygosity of genetic variants in TAF1A: sentinel event for evolving dilated cardiomyopathy—a case report

Rachel M A ter Bekke, Koen de Schouwer, Sergio Conti, Godelieve R F Claes, Jo Vanoevelen, Suzanne Gommers, Apollonia T J M Helderman-van den Enden and Hans-Peter Brunner-LaRocca

European heart journal : case reports, Vol.7(6), p.ytad255

06/01/2023

DOI: 10.1093/ehjcr/ytad255

PMCID: PMC10371049

PMID: 37501913

View Online

Abstract

Background Juvenile onset of extensive atrial electromechanical failure, including atrial standstill, is a rare disease entity that may precede ventricular cardiomyopathy. Genetic variants associated with early-onset atrioventricular (AV) cardiomyopathy are increasingly recognized. Case summary A 16-year-old patient presented with atrial brady- and tachyarrhythmias and concomitant impaired atrial electromechanical function (atrial standstill). The atrial phenotype preceded the development of a predominantly right-sided AV dilated cardiomyopathy with pronounced myocardial fibrosis. A His-bundle pacemaker was installed for high-degree AV conduction block and sinus arrest. Using familial-based whole-exome sequencing, a missense mutation and a copy number variant deletion (compound heterozygosity) of the TAF1A gene (involved in ribosomal RNA synthesis) were identified. Discussion Juvenile onset of severe atrial electromechanical failure with atrial arrhythmias should prompt deep pheno- and genotyping and calls for vigilance for downstream cardiomyopathic deterioration.

Grand Round

Details

Title: Subtitle: Juvenile-onset multifocal atrial arrhythmias, atrial standstill and compound heterozygosity of genetic variants in TAF1A: sentinel event for evolving dilated cardiomyopathy—a case report
Creators: Rachel M A ter Bekke - , ,
Koen de Schouwer - , ,
Sergio Conti - , ,
Godelieve R F Claes - , ,
Jo Vanoevelen - , ,
Suzanne Gommers - , ,
Apollonia T J M Helderman-van den Enden - , ,
Hans-Peter Brunner-LaRocca - , ,
Resource Type: Journal article
Publication Details: European heart journal : case reports, Vol.7(6), p.ytad255
DOI: 10.1093/ehjcr/ytad255
PMID: 37501913
PMCID: PMC10371049
NLM abbreviation: Eur Heart J Case Rep
ISSN: 2514-2119
eISSN: 2514-2119
Publisher: Oxford University Press
Language: English
Date published: 06/01/2023
Academic Unit: Internal Medicine
Record Identifier: 9984823123302771

Metrics

1 Record Views

1 Times Cited - Web of Science