Dataset Information

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

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.

SUBMITTER: Ter Bekke RMA

PROVIDER: S-EPMC10371049 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature

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Publications

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

Ter Bekke Rachel M A RMA de Schouwer Koen K Conti Sergio S Claes Godelieve R F GRF Vanoevelen Jo J Gommers Suzanne S Helderman-van den Enden Apollonia T J M ATJM Brunner-LaRocca Hans-Peter HP

European heart journal. Case reports 20230605 6

<h4>Background</h4>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.<h4>Case summary</h4>A 16-year-old patient presented with atrial brady- and tachyarrhythmias and concomitant impaired atrial electromechanical function (atrial standstill). The atrial phenotype preceded the dev ...[more]

PMID: 37501913

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